Mark McCarthy

• A Genome-Wide Association Study of IVGTT-Based Measures of First-Phase Insulin Secretion Refines the Underlying Physiology of Type 2 Diabetes Variants.

  Journal article

  Wood AR. et al, (2017), Diabetes, 66, 2296 - 2309

• Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness

  Journal article

  Willems SM. et al, (2017), Nature Communications, 8

• 10 Years of GWAS Discovery: Biology, Function, and Translation.

  Journal article

  Visscher PM. et al, (2017), Am J Hum Genet, 101, 5 - 22

• Dr Fauconnier talks to genomics expert, Prof. McCarthy

  Journal article

  McCarthy MI., (2017), CARDIOVASCULAR RESEARCH, 113, E26 - E26

• A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.

  Journal article

  Manning A. et al, (2017), Diabetes, 66, 2019 - 2032

• Characterising cis-regulatory variation in the transcriptome of histologically normal and tumour-derived pancreatic tissues.

  Journal article

  Zhang M. et al, (2017), Gut

• Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk.

  Journal article

  Day FR. et al, (2017), Nat Genet, 49, 834 - 841

• An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans.

  Journal article

  Scott RA. et al, (2017), Diabetes

• Painting a new picture of personalised medicine for diabetes.

  Journal article

  McCarthy MI., (2017), Diabetologia, 60, 793 - 799

• Erratum to: Painting a new picture of personalised medicine for diabetes.

  Journal article

  McCarthy MI., (2017), Diabetologia, 60

• Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

  Journal article

  Justice AE. et al, (2017), Nat Commun, 8

• How Can Genetic Studies Help Us to Understand Links Between Birth Weight and Type 2 Diabetes?

  Journal article

  Beaumont RN. et al, (2017), Curr Diab Rep, 17

• Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

  Journal article

  Graff M. et al, (2017), PLoS Genet, 13

• Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease.

  Journal article

  Webb TR. et al, (2017), J Am Coll Cardiol, 69, 823 - 836

• Decreased STARD10 Expression Is Associated with Defective Insulin Secretion in Humans and Mice.

  Journal article

  Carrat GR. et al, (2017), Am J Hum Genet, 100, 238 - 256

• The Genetic Landscape of Renal Complications in Type 1 Diabetes.

  Journal article

  Sandholm N. et al, (2017), J Am Soc Nephrol, 28, 557 - 574

• Genetics of T2DM in 2016: Biological and translational insights from T2DM genetics.

  Journal article

  McCarthy MI., (2017), Nat Rev Endocrinol, 13, 71 - 72

• Human disease genomics: from variants to biology.

  Journal article

  McCarthy MI. and MacArthur DG., (2017), Genome Biol, 18

• Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity.

  Journal article

  Wahl S. et al, (2017), Nature, 541, 81 - 86

• Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.

  Journal article

  Lotta LA. et al, (2017), Nat Genet, 49, 17 - 26

• Systematic Functional Characterization of Candidate Causal Genes for Type 2 Diabetes Risk Variants.

  Journal article

  Thomsen SK. et al, (2016), Diabetes, 65, 3805 - 3811

• Higher chylomicron remnants and LDL particle numbers associate with CD36 SNPs and DNA methylation sites that reduce CD36.

  Journal article

  Love-Gregory L. et al, (2016), J Lipid Res, 57, 2176 - 2184

• Improvements in Genotype Imputation by using a Population Specific Reference Panel in Africa

  Other

  Chen J. et al, (2016), GENETIC EPIDEMIOLOGY, 40, 628 - 629

• Genetic Predisposition to an Impaired Metabolism of the Branched-Chain Amino Acids and Risk of Type 2 Diabetes: A Mendelian Randomisation Analysis.

  Journal article

  Lotta LA. et al, (2016), PLoS Med, 13

• Genome-wide associations for birth weight and correlations with adult disease.

  Journal article

  Horikoshi M. et al, (2016), Nature, 538, 248 - 252

• Association Between Low-Density Lipoprotein Cholesterol-Lowering Genetic Variants and Risk of Type 2 Diabetes: A Meta-analysis.

  Journal article

  Lotta LA. et al, (2016), JAMA, 316, 1383 - 1391

• Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

  Journal article

  Surendran P. et al, (2016), Nat Genet, 48, 1151 - 1161

• The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

  Journal article

  Ehret GB. et al, (2016), Nat Genet, 48, 1171 - 1184

• The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes.

  Journal article

  Laver TW. et al, (2016), Diabetes, 65, 3212 - 3217

• A reference panel of 64,976 haplotypes for genotype imputation.

  Journal article

  McCarthy S. et al, (2016), Nat Genet, 48, 1279 - 1283

• Analysis with the exome array identifies multiple new independent variants in lipid loci.

  Journal article

  Kanoni S. et al, (2016), Hum Mol Genet, 25, 4094 - 4106

• Variation in the glucose transporter gene SLC2A2 is associated with glycemic response to metformin.

  Journal article

  Zhou K. et al, (2016), Nat Genet, 48, 1055 - 1059

• Tensor decomposition for multiple-tissue gene expression experiments.

  Journal article

  Hore V. et al, (2016), Nat Genet, 48, 1094 - 1100

• Analysis of protein-coding genetic variation in 60,706 humans.

  Journal article

  Lek M. et al, (2016), Nature, 536, 285 - 291

• Trans-ethnic study design approaches for fine-mapping.

  Journal article

  Asimit JL. et al, (2016), Eur J Hum Genet, 24, 1330 - 1336

• Strategies for improving statistical power for detailed physiological characterisation of individuals with type 2 diabetes-associated variants

  Other

  Umapathysivam MM. et al, (2016), DIABETOLOGIA, 59, S106 - S107

• Prioritising causal genes at type 2 diabetes risk loci through high-throughput screening for human beta cell dysfunction

  Other

  Thomsen SK. et al, (2016), DIABETOLOGIA, 59, S86 - S87

• Assessing the likely function of HNF1A missense variants using CRP and allele frequency data

  Conference paper

  Juszczak A. et al, (2016), DIABETOLOGIA, 59, S164 - S164

• A metabolite ratio associates with measures of insulin secretion and altered risk of type 2 diabetes; a DIRECT study

  Other

  't Hart LM. et al, (2016), DIABETOLOGIA, 59, S142 - S143

• Evaluation of type 2 diabetes genetic risk variants in Chinese adults: findings from 93,000 individuals from the China Kadoorie Biobank.

  Journal article

  Gan W. et al, (2016), Diabetologia, 59, 1446 - 1457

• A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease.

  Journal article

  Scott RA. et al, (2016), Sci Transl Med, 8

• Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms.

  Journal article

  Horikoshi M. et al, (2016), Hum Mol Genet, 25, 2070 - 2081

• Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease (vol 374, pg 1134, 2016)

  Journal article

  Stitziel NO. et al, (2016), NEW ENGLAND JOURNAL OF MEDICINE, 374, 1898 - 1898

• Erratum to: A coherent approach for analysis of the Illumina HumanMethylation450 BeadChip improves data quality and performance in epigenome-wide association studies.

  Journal article

  Lehne B. et al, (2016), Genome Biol, 17

• Insights into islet development and biology through characterization of a human iPSC-derived endocrine pancreas model.

  Journal article

  van de Bunt M. et al, (2016), Islets, 8, 83 - 95

• Harmonising and linking biomedical and clinical data across disparate data archives to enable integrative cross-biobank research.

  Journal article

  Spjuth O. et al, (2016), Eur J Hum Genet, 24, 521 - 528

• Genetic Evidence for Causal Relationships Between Maternal Obesity-Related Traits and Birth Weight.

  Journal article

  Tyrrell J. et al, (2016), JAMA, 315, 1129 - 1140

• New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk.

  Journal article

  Lu Y. et al, (2016), Nat Commun, 7

• Loss-of-Function Mutations in the Cell-Cycle Control Gene CDKN2A Impact on Glucose Homeostasis in Humans.

  Journal article

  Pal A. et al, (2016), Diabetes, 65, 527 - 533

• A null mutation in ANGPTL8 does not associate with either plasma glucose or type 2 diabetes in humans.

  Journal article

  Clapham KR. et al, (2016), BMC Endocr Disord, 16

• Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index.

  Journal article

  Felix JF. et al, (2016), Hum Mol Genet, 25, 389 - 403

• The Importance of Context: Uncovering Species- and Tissue-Specific Effects of Genetic Risk Variants for Type 2 Diabetes.

  Journal article

  Thomsen SK. et al, (2016), Front Endocrinol (Lausanne), 7

• Burden of Diabetes and First Evidence for the Utility of HbA1c for Diagnosis and Detection of Diabetes in Urban Black South Africans: The Durban Diabetes Study.

  Journal article

  Hird TR. et al, (2016), PLoS One, 11

• A Protein Domain and Family Based Approach to Rare Variant Association Analysis.

  Journal article

  Richardson TG. et al, (2016), PLoS One, 11

• Population whole-genome bisulfite sequencing across two tissues highlights the environment as the principal source of human methylome variation.

  Journal article

  Busche S. et al, (2015), Genome Biol, 16

• Transcript Expression Data from Human Islets Links Regulatory Signals from Genome-Wide Association Studies for Type 2 Diabetes and Glycemic Traits to Their Downstream Effectors.

  Journal article

  van de Bunt M. et al, (2015), PLoS Genet, 11

• PLOS Genetics Data Sharing Policy: In Pursuit of Functional Utility.

  Journal article

  Barsh GS. et al, (2015), PLoS Genet, 11

• Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.

  Journal article

  Gaulton KJ. et al, (2015), Nat Genet, 47, 1415 - 1425

• Glycosylation of plasma proteins in diagnosis of HNF1A-maturity onset diabetes of the young

  Conference paper

  Gornik O. et al, (2015), GLYCOBIOLOGY, 25, 1236 - 1237

• Evaluation of fucosylation as diagnostic marker in young onset diabetes

  Conference paper

  Pavic T. et al, (2015), GLYCOBIOLOGY, 25, 1302 - 1302

• miR-375 gene dosage in pancreatic β-cells: implications for regulation of β-cell mass and biomarker development

  Journal article

  Latreille M. et al, (2015), Journal of Molecular Medicine, 93, 1159 - 1169

• The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.

  Journal article

  Winkler TW. et al, (2015), PLoS Genet, 11

• Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank.

  Journal article

  Wain LV. et al, (2015), Lancet Respir Med, 3, 769 - 781

• miR-375 gene dosage in pancreatic β-cells: implications for regulation of β-cell mass and biomarker development.

  Journal article

  Latreille M. et al, (2015), J Mol Med (Berl), 93, 1159 - 1169

• Childhood cognitive ability moderates later-life manifestation of type 2 diabetes genetic risk.

  Journal article

  Mõttus R. et al, (2015), Health Psychol, 34, 915 - 919

• Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations.

  Journal article

  Hayes MG. et al, (2015), Nat Commun, 6

• Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity.

  Journal article

  Usher CL. et al, (2015), Nat Genet, 47, 921 - 925

• Genomic medicine at the heart of diabetes management.

  Journal article

  McCarthy MI., (2015), Diabetologia, 58, 1725 - 1729

• Assessing allele-specific expression across multiple tissues from RNA-seq read data.

  Journal article

  Pirinen M. et al, (2015), Bioinformatics, 31, 2497 - 2504

• Human islet function following 20 years of cryogenic biobanking.

  Journal article

  Manning Fox JE. et al, (2015), Diabetologia, 58, 1503 - 1512

• Epigenome-wide association of DNA methylation markers in peripheral blood from Indian Asians and Europeans with incident type 2 diabetes: a nested case-control study.

  Journal article

  Chambers JC. et al, (2015), Lancet Diabetes Endocrinol, 3, 526 - 534

• Discovery and Fine-Mapping of Glycaemic and Obesity-Related Trait Loci Using High-Density Imputation.

  Journal article

  Horikoshi M. et al, (2015), PLoS Genet, 11

• Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals.

  Journal article

  Nead KT. et al, (2015), Hum Mol Genet, 24, 3582 - 3594

• Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.

  Journal article

  Draisma HHM. et al, (2015), Nat Commun, 6

• The impact of low-frequency and rare variants on lipid levels.

  Journal article

  Surakka I. et al, (2015), Nat Genet, 47, 589 - 597

• Association analysis of 29,956 individuals confirms that a low-frequency variant at CCND2 halves the risk of type 2 diabetes by enhancing insulin secretion.

  Journal article

  Yaghootkar H. et al, (2015), Diabetes, 64, 2279 - 2285

• Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants.

  Journal article

  Allum F. et al, (2015), Nat Commun, 6

• Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans.

  Journal article

  GTEx Consortium None., (2015), Science, 348, 648 - 660

• Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.

  Journal article

  Rivas MA. et al, (2015), Science, 348, 666 - 669

• The genetics of diabetic complications.

  Journal article

  Ahlqvist E. et al, (2015), Nat Rev Nephrol, 11, 277 - 287

• Age- and sex-specific causal effects of adiposity on cardiovascular risk factors.

  Journal article

  Fall T. et al, (2015), Diabetes, 64, 1841 - 1852

• The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease.

  Journal article

  Moutsianas L. et al, (2015), PLoS Genet, 11

• Adiposity as a cause of cardiovascular disease: a Mendelian randomization study.

  Journal article

  Hägg S. et al, (2015), Int J Epidemiol, 44, 578 - 586

• Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes.

  Journal article

  Wood AR. et al, (2015), Hum Mol Genet, 24, 1504 - 1512

• Using genomic information to differentiate aetiology in young adult onset diabetes

  Journal article

  Kavvoura FK. et al, (2015), DIABETIC MEDICINE, 32, 18 - 18

• A novel common variant in DCST2 is associated with length in early life and height in adulthood.

  Journal article

  van der Valk RJ. et al, (2015), Hum Mol Genet, 24, 1155 - 1168

• A coherent approach for analysis of the Illumina HumanMethylation450 BeadChip improves data quality and performance in epigenome-wide association studies.

  Journal article

  Lehne B. et al, (2015), Genome Biol, 16

• New genetic loci link adipose and insulin biology to body fat distribution.

  Journal article

  Shungin D. et al, (2015), Nature, 518, 187 - 196

• Genetic studies of body mass index yield new insights for obesity biology.

  Journal article

  Locke AE. et al, (2015), Nature, 518, 197 - 206

• LRP5 regulates human body fat distribution by modulating adipose progenitor biology in a dose- and depot-specific fashion.

  Journal article

  Loh NY. et al, (2015), Cell Metab, 21, 262 - 272

• Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility.

  Journal article

  Wessel J. et al, (2015), Nat Commun, 6

• Mouse-human experimental epigenetic analysis unmasks dietary targets and genetic liability for diabetic phenotypes.

  Journal article

  Multhaup ML. et al, (2015), Cell Metab, 21, 138 - 149

• The impact of low-frequency and rare variants on lipid levels

  Journal article

  Surakka I. et al, (2015), Nature Genetics, 47, 589 - 597

• Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.

  Journal article

  Mahajan A. et al, (2015), PLoS Genet, 11

• Evaluating the Performance of Fine-Mapping Strategies at Common Variant GWAS Loci.

  Journal article

  van de Bunt M. et al, (2015), PLoS Genet, 11

• Epigenome-wide association of DNA methylation markers in peripheral blood from Indian Asians and Europeans with incident type 2 diabetes: A nested case-control study

  Journal article

  Chambers JC. et al, (2015), The Lancet Diabetes and Endocrinology, 3, 526 - 534

• Age-related clonal hematopoiesis associated with adverse outcomes.

  Journal article

  Jaiswal S. et al, (2014), N Engl J Med, 371, 2488 - 2498

• An integrated epigenomic analysis for type 2 diabetes susceptibility loci in monozygotic twins.

  Journal article

  Yuan W. et al, (2014), Nat Commun, 5

• Common genetic variants highlight the role of insulin resistance and body fat distribution in type 2 diabetes, independent of obesity.

  Journal article

  Scott RA. et al, (2014), Diabetes, 63, 4378 - 4387

• Distinct developmental profile of lower-body adipose tissue defines resistance against obesity-associated metabolic complications.

  Journal article

  Pinnick KE. et al, (2014), Diabetes, 63, 3785 - 3797

• Defining the role of common variation in the genomic and biological architecture of adult human height.

  Journal article

  Wood AR. et al, (2014), Nat Genet, 46, 1173 - 1186

• Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins.

  Journal article

  Postmus I. et al, (2014), Nat Commun, 5

• Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.

  Journal article

  Perry JR. et al, (2014), Nature, 514, 92 - 97

• Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes.

  Journal article

  Majithia AR. et al, (2014), Proc Natl Acad Sci U S A, 111, 13127 - 13132

• Meta-analysis of birth weight genome-wide association studies identifies two novel loci extending links between early growth and adult metabolic diseases

  Journal article

  Horikoshi M. et al, (2014), DIABETOLOGIA, 57, S51 - S51

• Identification of protein-coding variants associated with risk of type 2 diabetes

  Journal article

  Mahajan A. et al, (2014), DIABETOLOGIA, 57, S51 - S51

• Genetic variation related to tolbutamide and GLP-1 stimulated insulin secretion converges functionally in protein network space: a DIRECT study

  Journal article

  Pedersen HK. et al, (2014), DIABETOLOGIA, 57, S147 - S147

• FOXA2 bound sites are enriched for type 2 diabetes risk variants

  Journal article

  Gaulton KJ. et al, (2014), DIABETOLOGIA, 57, S66 - S66

• Association of vitamin D status with arterial blood pressure and hypertension risk: a mendelian randomisation study.

  Journal article

  Vimaleswaran KS. et al, (2014), Lancet Diabetes Endocrinol, 2, 719 - 729

• A common variant downstream of PCSK2 is associated with reduced tolbutamide stimulated insulin release: a DIRECT study

  Journal article

  Jonsson A. et al, (2014), DIABETOLOGIA, 57, S148 - S148

• A beta cell specific protein subnetwork significantly enriched for association with GLP-1 stimulated insulin secretion: a DIRECT study

  Journal article

  Gudmundsdottir V. et al, (2014), DIABETOLOGIA, 57, S66 - S66

• Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty.

  Journal article

  Cousminer DL. et al, (2014), Hum Mol Genet, 23, 4452 - 4464

• Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes.

  Journal article

  Ng MC. et al, (2014), PLoS Genet, 10

• Distribution and medical impact of loss-of-function variants in the Finnish founder population.

  Journal article

  Lim ET. et al, (2014), PLoS Genet, 10

• Serum sex hormone-binding globulin and testosterone in relation to cardiovascular disease risk factors in young men: a population-based study.

  Journal article

  Canoy D. et al, (2014), Eur J Endocrinol, 170, 863 - 872

• RNA sequencing identifies dysregulation of the human pancreatic islet transcriptome by the saturated fatty acid palmitate.

  Journal article

  Cnop M. et al, (2014), Diabetes, 63, 1978 - 1993

• Impact of type 2 diabetes susceptibility variants on quantitative glycemic traits reveals mechanistic heterogeneity.

  Journal article

  Dimas AS. et al, (2014), Diabetes, 63, 2158 - 2171

• Heritability of variation in glycaemic response to metformin: a genome-wide complex trait analysis.

  Journal article

  Zhou K. et al, (2014), Lancet Diabetes Endocrinol, 2, 481 - 487

• Gene-lifestyle interaction and type 2 diabetes: the EPIC interact case-cohort study.

  Journal article

  Langenberg C. et al, (2014), PLoS Med, 11

• Loss-of-function mutations in SLC30A8 protect against type 2 diabetes.

  Journal article

  Flannick J. et al, (2014), Nat Genet, 46, 357 - 363

• A central role for GRB10 in regulation of islet function in man.

  Journal article

  Prokopenko I. et al, (2014), PLoS Genet, 10

• HNF1A-MODY is associated with an intact CRP response during human endotoxaemia

  Journal article

  Mughal SA. et al, (2014), DIABETIC MEDICINE, 31, 54 - 55

• Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.

  Journal article

  DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium None. et al, (2014), Nat Genet, 46, 234 - 244

• Expression of phosphofructokinase in skeletal muscle is influenced by genetic variation and associated with insulin sensitivity.

  Journal article

  Keildson S. et al, (2014), Diabetes, 63, 1154 - 1165

• Data sharing in large research consortia: experiences and recommendations from ENGAGE.

  Journal article

  Budin-Ljøsne I. et al, (2014), Eur J Hum Genet, 22, 317 - 321

• Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.

  Journal article

  Lange LA. et al, (2014), Am J Hum Genet, 94, 233 - 245

• Revisiting the thrifty gene hypothesis via 65 loci associated with susceptibility to type 2 diabetes

  Journal article

  Ayub Q. et al, (2014), American Journal of Human Genetics, 94, 176 - 185

• Revisiting the thrifty gene hypothesis via 65 loci associated with susceptibility to type 2 diabetes.

  Journal article

  Ayub Q. et al, (2014), Am J Hum Genet, 94, 176 - 185

• Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants.

  Journal article

  Pasquali L. et al, (2014), Nat Genet, 46, 136 - 143

• Advances in the genetics of diabetes

  Journal article

  McCarthy M., (2014), DIABETES RESEARCH AND CLINICAL PRACTICE, 103, S4 - S4

• The South Asian genome.

  Journal article

  Chambers JC. et al, (2014), PLoS One, 9

• Research capacity. Enabling the genomic revolution in Africa

  Journal article

  Rotimi C. et al, (2014), Science, 344, 1346 - 1348

• Re-sequencing expands our understanding of the phenotypic impact of variants at GWAS loci.

  Journal article

  Service SK. et al, (2014), PLoS Genet, 10

• Re-sequencing Expands Our Understanding of the Phenotypic Impact of Variants at GWAS Loci

  Journal article

  Service SK. et al, (2014), PLoS Genetics, 10

• Insights into β-cell biology and type 2 diabetes pathogenesis from studies of the islet transcriptome

  Chapter

  Van De Bunt M. et al, (2014), 23, 111 - 121

• Heritability of variation in glycaemic response to metformin: A genome-wide complex trait analysis

  Journal article

  Zhou K. et al, (2014), The Lancet Diabetes and Endocrinology, 2, 481 - 487

• Genome-wide association studies of obesity

  Chapter

  Hedman ÅK. et al, (2014), The Genetics of Obesity, 33 - 53

• Fat depot-specific mRNA expression of novel loci associated with waist-hip ratio.

  Conference paper

  Schleinitz D. et al, (2014), Int J Obes (Lond), 38, 120 - 125

• Fat depot-specific mRNA expression of novel loci associated with waist-hip ratio

  Journal article

  Schleinitz D. et al, (2014), International Journal of Obesity, 38, 120 - 125

• Evaluation of common type 2 diabetes risk variants in a South Asian population of Sri Lankan descent.

  Journal article

  Hassanali N. et al, (2014), PLoS One, 9

• Common genetic variants highlight the role of insulin resistance and body fat distribution in type 2 diabetes, independent of obesity

  Journal article

  Scott RA. et al, (2014), Diabetes, 63, 4378 - 4387

• BMI-associated alleles do not constitute risk alleles for polycystic ovary syndrome independently of BMI: a case-control study.

  Journal article

  Louwers YV. et al, (2014), PLoS One, 9

• Global analysis of dna methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements

  Journal article

  Grundberg E. et al, (2013), American Journal of Human Genetics, 93, 876 - 890

• Global analysis of DNA methylation variation in adipose tissue from twins reveals links to disease-associated variants in distal regulatory elements.

  Journal article

  Grundberg E. et al, (2013), Am J Hum Genet, 93, 876 - 890

• Discovery and refinement of loci associated with lipid levels.

  Journal article

  Willer CJ. et al, (2013), Nat Genet, 45, 1274 - 1283

• Common variants associated with plasma triglycerides and risk for coronary artery disease.

  Journal article

  Do R. et al, (2013), Nat Genet, 45, 1345 - 1352

• Mendelian randomization studies do not support a causal role for reduced circulating adiponectin levels in insulin resistance and type 2 diabetes.

  Journal article

  Yaghootkar H. et al, (2013), Diabetes, 62, 3589 - 3598

• Genome-wide association analysis identifies 13 new risk loci for schizophrenia.

  Journal article

  Ripke S. et al, (2013), Nat Genet, 45, 1150 - 1159

• Assessing association between protein truncating variants and quantitative traits.

  Journal article

  Rivas MA. et al, (2013), Bioinformatics, 29, 2419 - 2426

• A common biological basis of obesity and nicotine addiction.

  Journal article

  Thorgeirsson TE. et al, (2013), Transl Psychiatry, 3

• Transcriptome and genome sequencing uncovers functional variation in humans.

  Journal article

  Lappalainen T. et al, (2013), Nature, 501, 506 - 511

• Transcriptome and genome sequencing uncovers functional variation in humans

  Journal article

  Lappalainen T. et al, (2013), Nature, 501, 506 - 511

• Pleiotropic effects on lipid levels and obesity identified in multi-trait meta-analysis of genome-wide association studies (GWAS) of type 2 diabetes related traits

  Conference paper

  Lagou V. et al, (2013), DIABETOLOGIA, 56, S60 - S60

• No attenuation of CRP response to acute inflammation is seen in HNF1A-MODY

  Conference paper

  Owen KR. et al, (2013), DIABETOLOGIA, 56, S151 - S152

• Large-scale genome-wide association meta-analysis of the 1000 genomes project imputed data identifies 19 novel lipid loci and new variants in previously known loci

  Conference paper

  Prokopenko I. et al, (2013), DIABETOLOGIA, 56, S158 - S158

• Large-scale genome-wide association meta-analysis of the 1000 genomes project imputed data identifies novel susceptibility loci for glycaemic and obesity traits

  Conference paper

  Horikoshi M. et al, (2013), DIABETOLOGIA, 56, S60 - S61

• Silencing of Atp2b1 increases blood pressure through vasoconstriction.

  Journal article

  Shin YB. et al, (2013), J Hypertens, 31, 1575 - 1583

• Gene expression changes with age in skin, adipose tissue, blood and brain.

  Journal article

  Glass D. et al, (2013), Genome Biol, 14

• Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity.

  Journal article

  Cousminer DL. et al, (2013), Hum Mol Genet, 22, 2735 - 2747

• The Genotype-Tissue Expression (GTEx) project.

  Journal article

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• Genetic Basis for Gestation Length

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• Common variants at 10 genomic loci influence hemoglobin A<inf>1C</inf> levels via glycemic and nonglycemic pathways (Diabetes (2010) 59, (3229-3239))

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• SAIL--a software system for sample and phenotype availability across biobanks and cohorts.

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• The architecture of gene regulatory variation across multiple human tissues: the MuTHER study.

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• From hype to hope? A journey through the genetics of Type 2 diabetes

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• Dorothy Hodgkin Lecture 2010. From hype to hope? A journey through the genetics of Type 2 diabetes.

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• Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes.

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• Common nonsynonymous substitutions in SLCO1B1 predispose to statin intolerance in routinely treated individuals with type 2 diabetes: a go-DARTS study.

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• Common nonsynonymous substitutions in SLCO1B1 predispose to statin intolerance in routinely treated individuals with Type 2 diabetes: A Go-DARTS study

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• Association between common variation at the FTO locus and changes in body mass index from infancy to late childhood: the complex nature of genetic association through growth and development.

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• Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21.

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• Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

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• MicroRNA expression in abdominal and gluteal adipose tissue is associated with mRNA expression levels and partly genetically driven.

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• Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians

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• Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci

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• Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma

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• Contribution of known genetic variants to increased risk of type-2 diabetes in Indian Asians

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• A role for coding functional variants in HNF4A in type 2 diabetes susceptibility.

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• A role for coding functional variants in HNF4A in type 2 diabetes susceptibility

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• Genomics, type 2 diabetes, and obesity.

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• GENOMIC MEDICINE Genomics, Type 2 Diabetes, and Obesity

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• Reply to Dlouha et al

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• Lack of association between a new tag SNP in the FTO gene and BMI in Czech-Slavonic population Reply

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• Integrated genetic and epigenetic analysis identifies haplotype-specific methylation in the FTO type 2 diabetes and obesity susceptibility locus.

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• Role of low frequency variants in HNF1A exons 8-10 encoding hepatocyte nuclear factor-1 alpha isoform A to susceptibility to Type 2 diabetes

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• Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution.

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• Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

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• Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.

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• Hundreds of variants clustered in genomic loci and biological pathways affect human height.

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• Life-course analysis of a fat mass and obesity-associated (FTO) gene variant and body mass index in the Northern Finland Birth Cohort 1966 using structural equation modeling.

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• Using imputation to investigate association of low-frequency variants with adiposity in the 1966 Northern Finnish birth cohort

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• Risk genotypes, allele-specific expression and methylation status in human islets at the KCNQ1 type 2 diabetes-susceptibility locus

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• Micro-ribonucleic acid expression profiling and expression quantitative trait loci analysis in human gluteal and abdominal adipose tissue

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• Insights into glucokinase regulatory protein regulation from the cellular and kinetic characterisation of rare coding variants

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• Identification of additional type 2 diabetes susceptibility loci through large-scale replication using "Metabochip": early result

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• Fine-scale mapping of type 2 diabetes susceptibility loci by imputation and conditional analysis

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• Extending criteria for genetic testing increases diagnosis of maturity-onset diabetes of the young

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• Assessment of high-sensitivity C-reactive protein levels as diagnostic discriminator of maturity-onset diabetes of the young due to HNF1A mutations.

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• Biological, clinical and population relevance of 95 loci for blood lipids.

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• Variation across the allele frequency spectrum.

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• Common genetic determinants of vitamin D insufficiency: a genome-wide association study.

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• Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

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• Global microRNA expression profiles in insulin target tissues in a spontaneous rat model of type 2 diabetes.

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• Evaluation of association of HNF1B variants with diverse cancers: collaborative analysis of data from 19 genome-wide association studies.

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• Distinct variants at LIN28B influence growth in height from birth to adulthood.

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• Large-scale association analysis of TNF/LTA gene region polymorphisms in type 2 diabetes.

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• Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight.

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• Type 2 diabetes

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  Zeggini E. and McCarthy MI., (2010), Human Genome Epidemiology: Building the Evidence for Using Genetic Information to Improve Health and Prevent Disease: Second Edition

• Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior.

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• Patterns of ovarian morphology in polycystic ovary syndrome: a study utilising magnetic resonance imaging.

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• Meta-analysis and functional effects of the SLC30A8 rs13266634 polymorphism on isolated human pancreatic islets.

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• Genetic loci influencing kidney function and chronic kidney disease.

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• Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans.

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  Ingelsson E. et al, (2010), Diabetes, 59, 1266 - 1275

• A powerful approach to sub-phenotype analysis in population-based genetic association studies.

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• Two new Loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and german study groups.

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• Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.

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• Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution

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  Lindgren CM. et al, (2010), PLOS GENETICS, 6

• European lactase persistence genotype shows evidence of association with increase in body mass index.

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• Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk.

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• Genome-wide association study reveals multiple loci associated with primary tooth development during infancy.

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• Variability of gene expression profiles in human blood and lymphoblastoid cell lines.

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• A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

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• New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.

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• Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.

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• Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes.

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• Evaluation of serum 1,5 anhydroglucitol levels as a clinical test to differentiate subtypes of diabetes.

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• Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology.

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• Reply to Dlouha et al

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• Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

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• Loss-of-function CYP2C9 variants improve therapeutic response to sulfonylureas in type 2 diabetes: a Go-DARTS study.

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• Lack of significant effects of the type 2 diabetes susceptibility loci JAZF1, CDC123/CAMK1D, NOTCH2, ADAMTS9, THADA, and TSPAN8/LGR5 on diabetes and quantitative metabolic traits.

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• Genetic association analysis of LARS2 with type 2 diabetes.

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• Evaluation of association of HNF1B variants with diverse cancers: collaborative analysis of data from 19 genome-wide association studies.

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• Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes

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• Association of FTO variants with BMI and fat mass in the self-contained population of Sorbs in Germany.

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• Association of FTO variants with BMI and fat mass in the self-contained population of Sorbs in Germany

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  Tönjes A. et al, (2010), European Journal of Human Genetics, 18, 104 - 110

• Novel Genetic Loci Implicated in Fasting Glucose Homeostasis and Their Impact on Related Metabolic Traits

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  Dupuis J. et al, (2009), GENETIC EPIDEMIOLOGY, 33, 788 - 788

• Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region.

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• The thermic response to food is related to sensitivity to adrenaline in a group at risk for the development of type II diabetes.

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• Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels.

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• Common genetic variation near melatonin receptor MTNR1B contributes to raised plasma glucose and increased risk of type 2 diabetes among Indian Asians and European Caucasians.

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• ASSOCIATION BETWEEN FTO POLYMORPHISM, ADIPOSITY PEAK AND ADIPOSITY REBOUND IN THE NORTHERN FINLAND BIRTH COHORT 1966

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  Sovio U. et al, (2009), ATHEROSCLEROSIS, 207, E4 - E5

• ANRIL, THE NON CODING RNA PRESENT IN THE CHROMOSOME 9 CAD ASSOCIATED LOCUS, HAS MULTIPLE SPLICE VARIANTS AND A POTENTIAL REGULATORY ROLE IN CDKN2B EXPRESSION

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• A System for Information Management in BioMedical Studies--SIMBioMS.

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• Finding the missing heritability of complex diseases.

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• Type 1 and type 2 diabetes-chalk and cheese?

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• Meta-analysis of the INSIG2 association with obesity including 74,345 individuals: does heterogeneity of estimates relate to study design?

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• Circulating beta-carotene levels and type 2 diabetes-cause or effect?

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• Underlying genetic models of inheritance in established type 2 diabetes associations.

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• The use of 1,5 anhydroglucitol level as a clinical test to differentiate subtypes of diabetes

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• Search for low-frequency variants associated with overall and central adiposity

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• Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?

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• Investigating PTEN expression in tissues of insulin action illustrates reduced mRNA expression in adipose tissue of patients with type 2 diabetes

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• Increased 5 alpha-reductase activity and adrenocortical drive in women with polycystic ovary syndrome.

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• Genome-wide association meta-analysis and replication involving 141,547 individuals of European descent identifies further loci influencing type 2 diabetes risk

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• Gene expression analysis demonstrates presence of a non-coding RNA (ANRIL) in human islets and FACs sorted beta cells which has a potential regulatory role on CDKN2B expression

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  Pal A. et al, (2009), DIABETOLOGIA, 52, S49 - S50

• Functional effects of the common SLC30A8 Arg325Trp polymorphism on isolated human pancreatic islets

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• MicroRNA-125a is over-expressed in insulin target tissues in a spontaneous rat model of Type 2 Diabetes.

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• Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes.

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• Exploring the unknown: assumptions about allelic architecture and strategies for susceptibility variant discovery.

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  McCarthy MI., (2009), Genome Med, 1

• What will genome-wide association studies mean to the clinical endocrinologist?

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• Linkage disequilibrium mapping of the replicated type 2 diabetes linkage signal on chromosome 1q

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• Linkage disequilibrium mapping of the replicated type 2 diabetes linkage signal on chromosome 1q.

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• Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease.

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• Type 2 diabetes risk alleles are associated with reduced size at birth.

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• Reduced-function SLC22A1 polymorphisms encoding organic cation transporter 1 and glycemic response to metformin: a GoDARTS study.

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• Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.

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• Interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach.

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• Hnf1alpha (MODY3) controls tissue-specific transcriptional programs and exerts opposed effects on cell growth in pancreatic islets and liver.

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• Genome-wide association study identifies eight loci associated with blood pressure.

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• Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.

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• GENETIC LOCI INFLUENCING C-REACTIVE PROTEIN LEVELS AND CORONARY HEART DISEASE RISK: RESULTS OF GENETIC ASSOCIATION AND MENDELIAN RANDOMISATION STUDY WITH META-ANALYSIS IN 80 614 PEOPLE

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• Adolescent manifestations of metabolic syndrome among children born to women with gestational diabetes in a general-population birth cohort.

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• A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.

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• Genome-wide association studies in type 2 diabetes.

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• Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966.

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• Family-based analysis of tumor necrosis factor and lymphotoxin-alpha tag polymorphisms with type 1 diabetes in the population of South Croatia.

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• Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.

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• FTO gene variants are strongly associated with type 2 diabetes in South Asian Indians.

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• Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.

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• Variants in MTNR1B influence fasting glucose levels.

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• Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.

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• Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

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• Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

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• Type 2 diabetes: new genes, new understanding.

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• Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.

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• Population-specific risk of type 2 diabetes conferred by HNF4A P2 promoter variants: a lesson for replication studies.

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• Learning from molecular genetics: novel insights arising from the definition of genes for monogenic and type 2 diabetes.

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• Comparison of metabolic and inflammatory outcomes in women who used oral contraceptives and the levonorgestrel-releasing intrauterine device in a general population.

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• Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.

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• Genome-wide association studies: past, present and future.

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• Genome-wide association studies: potential next steps on a genetic journey.

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• Editorial: Genome-wide association studies: Past, present and future

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• The fat mass- and obesity-associated locus and dietary intake in children.

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• Optimization of human plasma 1H NMR spectroscopic data processing for high-throughput metabolic phenotyping studies and detection of insulin resistance related to type 2 diabetes.

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• Studies of genome-wide association data support a genetic overlap between type 2 diabetes and prostate cancer

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• Stratified analysis of the Wellcome Trust Case Control Consortium scan for type 2 diabetes reveals susceptibility loci that may affect age of diagnosis

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• Prevalence and projections of diabetes and pre-diabetes in adults in Sri Lanka--Sri Lanka Diabetes, Cardiovascular Study (SLDCS).

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• Ovarian morphology is a marker of heritable biochemical traits in sisters with polycystic ovaries.

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• Meta-analysis of genome-wide association data involving 6,100 adults of European origin identifies common variants associated with fasting glucose levels

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• Large-scale type 2 diabetes association analysis of low-frequency nonsynonymous coding variants in the HNF4A gene including up to 17,600 individuals

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• Large-scale follow-up study does not confirm putative association signals in the NOS1AP and PKLR gene regions on chromosome 1q with type 2 diabetes

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• Genome-wide association (GWA) analysis in 4000 members of a Finnish birth cohort identifies common variants associated with fasting insulin levels and related metabolic traits

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• First-generation scan of genome-wide association data allowing for epistasis prioritises multiple interacting candidate loci in T2D

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• Fine-mapping type 2 diabetes causal variants on chromosome 9p21 in 2000 UK cases and 3000 unselected controls

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• Fecundability and spontaneous abortions in women with self-reported oligo-amenorrhea and/or hirsutism: Northern Finland Birth Cohort 1966 Study.

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• Extended analysis of genome-wide scans provides clues about novel common and rare susceptibility loci for type 2 diabetes

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• Direct evidence to support the fetal insulin hypothesis as the type 2 diabetes risk alleles at the CDKALI and HHEX-IDE gene loci reduce birth weight

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• Differences between global miRNA expression profiles in diabetic and normoglycaemic rats

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• Casting a wider net for diabetes susceptibility genes.

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  McCarthy MI., (2008), Nat Genet, 40, 1039 - 1040

• A Mendelian randomisation study provides initial evidence that sex hormone binding globulin (SHBG) levels alter type 2 diabetes risk

  Conference paper

  Perry JRB. et al, (2008), DIABETOLOGIA, 51, S131 - S131

• Genetics: how the UKPDS contributed to determining the genetic landscape of Type 2 diabetes.

  Journal article

  Gloyn AL. and McCarthy MI., (2008), Diabet Med, 25 Suppl 2, 35 - 40

• Diabetes mellitus among young adults in Sri Lanka--role of GAD antibodies in classification and treatment: the Sri Lanka Young Diabetes study.

  Journal article

  Katulanda P. et al, (2008), Diabetologia, 51, 1368 - 1374

• Serum levels of retinol-binding protein 4 and adiponectin in women with polycystic ovary syndrome: associations with visceral fat but no evidence for fat mass-independent effects on pathogenesis in this condition.

  Journal article

  Barber TM. et al, (2008), J Clin Endocrinol Metab, 93, 2859 - 2865

• Does genetic variation in FTO account for the increased risk of obesity and type 2 diabetes in UK Indian Asians?

  Conference paper

  Chambers JC. et al, (2008), HEART, 94, A58 - A59

• Association of variants in the fat mass and obesity associated (FTO) gene with polycystic ovary syndrome.

  Journal article

  Barber TM. et al, (2008), Diabetologia, 51, 1153 - 1158

• Are Indian Asians genetically homogeneous? Implications for genetic association studies

  Conference paper

  Zhang W. et al, (2008), HEART, 94, A65 - A65

• miRNA expression profile in rats correlates with type-2-diabetes phenotype

  Conference paper

  Herrera BM. et al, (2008), DIABETES, 57, A316 - A316

• Common variants near MC4R are associated with fat mass, weight and risk of obesity.

  Journal article

  Loos RJ. et al, (2008), Nat Genet, 40, 768 - 775

• A genome-wide association study identifies protein quantitative trait loci (pQTLs).

  Journal article

  Melzer D. et al, (2008), PLoS Genet, 4

• Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.

  Journal article

  Zeggini E. et al, (2008), Nat Genet, 40, 638 - 645

• Genome-wide association studies for complex traits: consensus, uncertainty and challenges.

  Journal article

  McCarthy MI. et al, (2008), Nat Rev Genet, 9, 356 - 369

• Genome-wide association analysis identifies 20 loci that influence adult height.

  Journal article

  Weedon MN. et al, (2008), Nat Genet, 40, 575 - 583

• Common variation in the FTO gene alters diabetes-related metabolic traits to the extent expected given its effect on BMI.

  Journal article

  Freathy RM. et al, (2008), Diabetes, 57, 1419 - 1426

• Regulation of Fto/Ftm gene expression in mice and humans.

  Journal article

  Stratigopoulos G. et al, (2008), Am J Physiol Regul Integr Comp Physiol, 294, R1185 - R1196

• Ghrelin levels are suppressed and show a blunted response to oral glucose in women with polycystic ovary syndrome.

  Journal article

  Barber TM. et al, (2008), Eur J Endocrinol, 158, 511 - 516

• Exploring the developmental overnutrition hypothesis using parental-offspring associations and FTO as an instrumental variable.

  Journal article

  Lawlor DA. et al, (2008), PLoS Med, 5

• Prevalence and clinical characteristics of maternally inherited diabetes and deafness caused by the mt3243A > G mutation in young adult diabetic subjects in Sri Lanka.

  Journal article

  Katulanda P. et al, (2008), Diabet Med, 25, 370 - 374

• Mechanisms of disease: genetic insights into the etiology of type 2 diabetes and obesity.

  Journal article

  Lindgren CM. and McCarthy MI., (2008), Nat Clin Pract Endocrinol Metab, 4, 156 - 163

• Global adiposity rather than abnormal regional fat distribution characterizes women with polycystic ovary syndrome.

  Journal article

  Barber TM. et al, (2008), J Clin Endocrinol Metab, 93, 999 - 1004

• Exploring the developmental overnutrition hypothesis using parental-offspring associations and FTO as an instrumental variable

  Journal article

  Lawlor DA. et al, (2008), PLOS MEDICINE, 5, 484 - 493

• Assessment of cumulative evidence on genetic associations: interim guidelines.

  Journal article

  Ioannidis JP. et al, (2008), Int J Epidemiol, 37, 120 - 132

• No evidence that established type 2 diabetes susceptibility variants in the PPARG and KCNJ11 genes have pleiotropic effects on early growth.

  Journal article

  Bennett AJ. et al, (2008), Diabetologia, 51, 82 - 85

• Genetics of type 2 diabetes mellitus and obesity--a review.

  Journal article

  Jafar-Mohammadi B. and McCarthy MI., (2008), Ann Med, 40, 2 - 10

• Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies.

  Journal article

  Keating BJ. et al, (2008), PLoS One, 3

• Genome-wide association scans for Type 2 diabetes: new insights into biology and therapy.

  Journal article

  McCarthy MI. and Zeggini E., (2007), Trends Pharmacol Sci, 28, 598 - 601

• Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic beta-cell function.

  Journal article

  Pascoe L. et al, (2007), Diabetes, 56, 3101 - 3104

• Genetic studies of diabetes following the advent of the genome-wide association study: where do we go from here?

  Journal article

  Frayling TM. and McCarthy MI., (2007), Diabetologia, 50, 2229 - 2233

• Disparate genetic influences on polycystic ovary syndrome (PCOS) and type 2 diabetes revealed by a lack of association between common variants within the TCF7L2 gene and PCOS.

  Journal article

  Barber TM. et al, (2007), Diabetologia, 50, 2318 - 2322

• Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants.

  Journal article

  Wellcome Trust Case Control Consortium None. et al, (2007), Nat Genet, 39, 1329 - 1337

• Exploring the developmental overnutrition hypothesis using parental-offspring associations and the FTO gene as an instrumental variable for maternal adiposity. The Avon Longitudinal Study of Parents And Children (ALSPAC)

  Journal article

  Lawlor DA. et al, (2007), EARLY HUMAN DEVELOPMENT, 83, S48 - S49

• A common variant of HMGA2 is associated with adult and childhood height in the general population.

  Journal article

  Weedon MN. et al, (2007), Nat Genet, 39, 1245 - 1250

• Subtle metabolic and liver gene transcriptional changes underlie diet-induced fatty liver susceptibility in insulin-resistant mice.

  Journal article

  Toye AA. et al, (2007), Diabetologia, 50, 1867 - 1879

• Prevalence of diabetes mellitus, pre-diabetes and the underlying risk factors in Sri Lanka - Sri Lanka Diabetes and Cardiovascular Study

  Conference paper

  Matthews DR. et al, (2007), DIABETOLOGIA, 50, S164 - S164

• Large-scale replication typing of modest signals from genome-wide association studies identifies additional type 2 diabetes susceptibility variants in the IGF2BP2 and VEGFA genes

  Conference paper

  Zeggini E. et al, (2007), DIABETOLOGIA, 50, S39 - S39

• High-density association mapping and comprehensive tagging of the type 2 diabetes linkage region on chromosome 1q in 4 European populations

  Conference paper

  Prokopenko I. et al, (2007), DIABETOLOGIA, 50, S75 - S75

• Genome-wide association data highlight an aetiological role for disturbances in cyclin-dependent kinase pathways in type 2 diabetes

  Conference paper

  Timpson NJ. et al, (2007), DIABETOLOGIA, 50, S38 - S38

• Diabetes due to the mt3243 A > G mutation among young adult diabetic subjects in Sri Lanka - prevalence and clinical heterogeneity

  Conference paper

  Katulanda P. et al, (2007), DIABETOLOGIA, 50, S121 - S122

• Comparison of prioritisation strategies for selecting subjects with apparent type 1 diabetes for MODY gene sequencing

  Conference paper

  Owen KR. et al, (2007), DIABETOLOGIA, 50, S124 - S124

• Common variation in the FTO (fused toes) gene is strongly associated with adiposity measures in the northern finnish birth cohort of 1966

  Conference paper

  Bennett AJ. et al, (2007), DIABETOLOGIA, 50, S76 - S76

• Biological pathway analysis for type 2 diabetes using genome-wide association data

  Conference paper

  Weedon MN. et al, (2007), DIABETOLOGIA, 50, S130 - S130

• A common variant in the FTO gene region is associated with BMI in the general population and predisposes to adult and childhood obesity

  Conference paper

  Lango H. et al, (2007), DIABETOLOGIA, 50, S22 - S22

• Variation in TCF7L2 influences therapeutic response to sulfonylureas: a GoDARTs study.

  Journal article

  Pearson ER. et al, (2007), Diabetes, 56, 2178 - 2182

• Detailed analysis of variation at and around mitochondrial position 16189 in a large Finnish cohort reveals no significant associations with early growth or metabolic phenotypes at age 31 years.

  Journal article

  Das S. et al, (2007), J Clin Endocrinol Metab, 92, 3219 - 3223

• Common variants in WFS1 confer risk of type 2 diabetes.

  Journal article

  Sandhu MS. et al, (2007), Nat Genet, 39, 951 - 953

• Genome-wide search for multiple loci in type 2 diabetes

  Conference paper

  Bell JT. et al, (2007), GENETIC EPIDEMIOLOGY, 31, 462 - 463

• Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

  Journal article

  Wellcome Trust Case Control Consortium None., (2007), Nature, 447, 661 - 678

• Type 2 diabetes TCF7L2 risk genotypes alter birth weight: a study of 24,053 individuals.

  Journal article

  Freathy RM. et al, (2007), Am J Hum Genet, 80, 1150 - 1161

• TCF7L2 in the Go-DARTS study: evidence for a gene dose effect on both diabetes susceptibility and control of glucose levels.

  Journal article

  Kimber CH. et al, (2007), Diabetologia, 50, 1186 - 1191

• Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.

  Journal article

  Zeggini E. et al, (2007), Science, 316, 1336 - 1341

• Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), polycystic ovary syndrome and androgen levels.

  Journal article

  Barber TM. et al, (2007), Eur J Hum Genet, 15, 679 - 684

• Mitochondrial DNA haplogroups and type 2 diabetes: a study of 897 cases and 1010 controls.

  Journal article

  Chinnery PF. et al, (2007), J Med Genet, 44

• Genetics of type 2 diabetes.

  Journal article

  Owen KR. and McCarthy MI., (2007), Curr Opin Genet Dev, 17, 239 - 244

• Examining the candidacy of ghrelin as a gene responsible for variation in adult stature in a United Kingdom population with type 2 diabetes.

  Journal article

  Gueorguiev M. et al, (2007), J Clin Endocrinol Metab, 92, 2201 - 2204

• Association between the T-381C polymorphism of the brain natriuretic peptide gene and risk of type 2 diabetes in human populations.

  Journal article

  Meirhaeghe A. et al, (2007), Hum Mol Genet, 16, 1343 - 1350

• A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity.

  Journal article

  Frayling TM. et al, (2007), Science, 316, 889 - 894

• Metabolic characteristics of women with polycystic ovaries and oligo-amenorrhoea but normal androgen levels: implications for the management of polycystic ovary syndrome.

  Journal article

  Barber TM. et al, (2007), Clin Endocrinol (Oxf), 66, 513 - 517

• Type 2 diabetes transcription factor 7-like 2 (TCF7L2) risk alleles reduce beta-cell function and increase birth weight

  Journal article

  Freathy RM. et al, (2007), DIABETIC MEDICINE, 24, 10 - 10

• Pharmacogenetics in Type 2 diabetes: variation in TCF7L2 influences response to sulphonylureas

  Journal article

  Pearson ER. et al, (2007), DIABETIC MEDICINE, 24, 5 - 5

• High prevalence of diabetes and prediabetic states among urban adults in Sri Lanka. Sri Lanka diabetes and cardiovascular study

  Journal article

  Katulanda P. et al, (2007), DIABETIC MEDICINE, 24, 27 - 27

• Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes.

  Journal article

  Winckler W. et al, (2007), Diabetes, 56, 685 - 693

• Common variation in the LMNA gene (encoding lamin A/C) and type 2 diabetes: association analyses in 9,518 subjects.

  Journal article

  Owen KR. et al, (2007), Diabetes, 56, 879 - 883

• C-peptide measurement provides evidence for misdiagnosis in clinically classified Type 1 diabetes

  Journal article

  Selwood MP. et al, (2007), DIABETIC MEDICINE, 24, 6 - 6

• Activating transcription factor 6 (ATF6) sequence polymorphisms in type 2 diabetes and pre-diabetic traits

  Journal article

  Chu WS. et al, (2007), Diabetes, 56, 856 - 862

• Activating transcription factor 6 (ATF6) sequence polymorphisms in type 2 diabetes and pre-diabetic traits.

  Journal article

  Chu WS. et al, (2007), Diabetes, 56, 856 - 862

• PASSIM--an open source software system for managing information in biomedical studies.

  Journal article

  Viksna J. et al, (2007), BMC Bioinformatics, 8

• Type 2 diabetes mellitus

  Chapter

  McCarthy MI., (2007), Genes and Common Diseases, 344 - 358

• TCF7L2: the biggest story in diabetes genetics since HLA?

  Journal article

  Zeggini E. and McCarthy MI., (2007), Diabetologia, 50, 1 - 4

• Metabolic syndrome in polycystic ovary syndrome.

  Journal article

  Barber TM. et al, (2007), Endokrynol Pol, 58, 34 - 41

• Identifying susceptibility variants for type 2 diabetes.

  Journal article

  Zeggini E. and McCarthy MI., (2007), Methods Mol Biol, 376, 235 - 250

• An association analysis of the HLA gene region in latent autoimmune diabetes in adults.

  Journal article

  Desai M. et al, (2007), Diabetologia, 50, 68 - 73

• Paraoxonase 2 (PON2) polymorphisms and development of renal dysfunction in type 2 diabetes: UKPDS 76.

  Journal article

  Calle R. et al, (2006), Diabetologia, 49, 2892 - 2899

• No evidence of association of ENPP1 variants with type 2 diabetes or obesity in a study of 8,089 U.K. Caucasians.

  Journal article

  Weedon MN. et al, (2006), Diabetes, 55, 3175 - 3179

• Epistasis between type 2 diabetes susceptibility Loci on chromosomes 1q21-25 and 10q23-26 in northern Europeans.

  Journal article

  Wiltshire S. et al, (2006), Ann Hum Genet, 70, 726 - 737

• Combining information from common type 2 diabetes risk polymorphisms improves disease prediction.

  Journal article

  Weedon MN. et al, (2006), PLoS Med, 3

• Variation within the gene encoding the upstream stimulatory factor 1 does not influence susceptibility to type 2 diabetes in samples from populations with replicated evidence of linkage to chromosome 1q.

  Journal article

  Zeggini E. et al, (2006), Diabetes, 55, 2541 - 2548

• Sustained endogenous glucose production, diminished lipolysis and non-esterified fatty acid appearance and oxidation in non-obese women at high risk of type 2 diabetes.

  Journal article

  Forbes S. et al, (2006), Eur J Endocrinol, 155, 469 - 476

• Should long-term hormonal contraception be reconsidered? Metabolic and inflammatory outcomes in women using oral contraceptives and the levonorgestrel-releasing intrauterine device in a general population.

  Conference paper

  Morin-Papunen LC. et al, (2006), FERTILITY AND STERILITY, 86, S15 - S15

• Polymorphisms in the glucokinase-associated, dual-specificity phosphatase 12 (DUSP12) gene under chromosome 1q21 linkage peak are associated with type 2 diabetes

  Journal article

  Das SK. et al, (2006), Diabetes, 55, 2631 - 2639

• Polymorphisms in the glucokinase-associated, dual-specificity phosphatase 12 (DUSP12) gene under chromosome 1q21 linkage peak are associated with type 2 diabetes.

  Journal article

  Das SK. et al, (2006), Diabetes, 55, 2631 - 2639

• Phenotypic characteristics among young adult-onset diabetic subjects in Sri Lanka (A south Asian population) - Sri Lanka Young Diabetes Study (SLYDS)

  Conference paper

  Matthews DR. et al, (2006), DIABETOLOGIA, 49, 196 - 197

• Maternal gestational diabetes and the manifestations of metabolic syndrome in adolescent offspring

  Conference paper

  Pouta A. et al, (2006), DIABETOLOGIA, 49, 574 - 575

• Large scale case-control and family-based analyses of TCF7L2 variants in > 6000 UK subjects demonstrates an almost two-fold difference in relative risk between homozygote classes

  Conference paper

  Groves CJ. et al, (2006), DIABETOLOGIA, 49, 14 - 14

• Evidence that the LARS2 gene represents a novel type 2 diabetes mellitus gene

  Conference paper

  Reiling E. et al, (2006), DIABETOLOGIA, 49, 37 - 38

• Common variation in the LMNA gene increases susceptibility to type 2 diabetes

  Conference paper

  Owen KR. et al, (2006), DIABETOLOGIA, 49, 206 - 206

• Association analysis of 6,736 U.K. subjects provides replication and confirms TCF7L2 as a type 2 diabetes susceptibility gene with a substantial effect on individual risk.

  Journal article

  Groves CJ. et al, (2006), Diabetes, 55, 2640 - 2644

• Metabolic profiling reveals a contribution of gut microbiota to fatty liver phenotype in insulin-resistant mice.

  Journal article

  Dumas ME. et al, (2006), Proc Natl Acad Sci U S A, 103, 12511 - 12516

• Reduced beta cell function in offspring of mothers with young-onset type 2 diabetes.

  Journal article

  Singh R. et al, (2006), Diabetologia, 49, 1876 - 1880

• Obesity and polycystic ovary syndrome.

  Journal article

  Barber TM. et al, (2006), Clin Endocrinol (Oxf), 65, 137 - 145

• GAD antibodies in probands and their relatives in a cohort clinically selected for Type 2 diabetes.

  Journal article

  Castleden HA. et al, (2006), Diabet Med, 23, 834 - 838

• Assessment of the role of common genetic variation in the transient neonatal diabetes mellitus (TNDM) region in type 2 diabetes: a comparative genomic and tagging single nucleotide polymorphism approach.

  Journal article

  Gloyn AL. et al, (2006), Diabetes, 55, 2272 - 2276

• Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome.

  Journal article

  Draper N. et al, (2006), Clin Endocrinol (Oxf), 65, 64 - 70

• The functional "KL-VS" variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians.

  Journal article

  Freathy RM. et al, (2006), BMC Med Genet, 7

• The variable number of tandem repeats upstream of the insulin gene is a susceptibility locus for latent autoimmune diabetes in adults.

  Journal article

  Desai M. et al, (2006), Diabetes, 55, 1890 - 1894

• Significant linkage of BMI to chromosome 10p in the U.K. population and evaluation of GAD2 as a positional candidate.

  Journal article

  Groves CJ. et al, (2006), Diabetes, 55, 1884 - 1889

• Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population.

  Journal article

  Patel S. et al, (2006), Diabetologia, 49, 1209 - 1213

• Functional variation in VEGF is not associated with type 2 diabetes in a United Kingdom Caucasian population.

  Journal article

  Freathy RM. et al, (2006), JOP, 7, 295 - 302

• Genetics of type 2 diabetes.

  Journal article

  McCarthy MI. and Zeggini E., (2006), Curr Diab Rep, 6, 147 - 154

• Development of polycystic ovary syndrome: involvement of genetic and environmental factors.

  Conference paper

  Franks S. et al, (2006), Int J Androl, 29, 278 - 285

• The impact of ethnicity on glucose regulation and the metabolic syndrome following gestational diabetes.

  Journal article

  Kousta E. et al, (2006), Diabetologia, 49, 36 - 40

• High-density haplotype structure and association testing of the insulin-degrading enzyme (IDE) gene with type 2 diabetes in 4,206 people.

  Journal article

  Florez JC. et al, (2006), Diabetes, 55, 128 - 135

• Will the real disease gene please stand up?

  Conference paper

  Shephard N. et al, (2005), BMC Genet, 6 Suppl 1

• Examining the relationships between the Pro12Ala variant in PPARG and Type 2 diabetes-related traits in UK samples.

  Journal article

  Zeggini E. et al, (2005), Diabet Med, 22, 1696 - 1700

• An evaluation of HapMap sample size and tagging SNP performance in large-scale empirical and simulated data sets.

  Journal article

  Zeggini E. et al, (2005), Nat Genet, 37, 1320 - 1322

• Role of the mitochondrial DNA 16184-16193 poly-C tract in type 2 diabetes.

  Journal article

  Chinnery PF. et al, (2005), Lancet, 366, 1650 - 1651

• The effect of sample size on tagging SNP performance and consequences for complex disease gene mapping

  Conference paper

  Zeggini E. et al, (2005), GENETIC EPIDEMIOLOGY, 29, 290 - 290

• Reduced beta cell function in offspring of mothers with young onset type 2 diabetes

  Conference paper

  Singh R. et al, (2005), PEDIATRIC RESEARCH, 58, 1030 - 1031

• What makes a good genetic association study?

  Journal article

  Hattersley AT. and McCarthy MI., (2005), Lancet, 366, 1315 - 1323

• What makes a good genetic association study?

  Journal article

  Hattersley AT. and McCarthy MI., (2005), Lancet, 366, 1315 - 1323

• Large-scale studies of the association between variation at the TNF/LTA locus and susceptibility to type 2 diabetes.

  Journal article

  Zeggini E. et al, (2005), Diabetologia, 48, 2013 - 2017

• A large-scale association analysis of common variation of the HNF1alpha gene with type 2 diabetes in the U.K. Caucasian population.

  Journal article

  Weedon MN. et al, (2005), Diabetes, 54, 2487 - 2491

• Making the right associations.

  Journal article

  McCarthy MI. et al, (2005), Diabetologia, 48, 1241 - 1243

• No association between insulin gene variation and adult metabolic phenotypes in a large Finnish birth cohort.

  Journal article

  Bennett A. et al, (2005), Diabetologia, 48, 886 - 891

• Analysis of multiple data sets reveals no association between the insulin gene variable number tandem repeat element and polycystic ovary syndrome or related traits.

  Journal article

  Powell BL. et al, (2005), J Clin Endocrinol Metab, 90, 2988 - 2993

• Susceptibility for latent autoimmune diabetes in adults (LADA) is determined by variation at the 1DDM2 (insulin-gene) locus in white Caucasian patients from UK repositories

  Conference paper

  Desai M. et al, (2005), DIABETOLOGIA, 48, A86 - A86

• Relationship between common variants in the Stearoyl CoA desaturase (SCD) gene and intermediate phenotypes associated with type 2 diabetes

  Conference paper

  Jain D. et al, (2005), DIABETOLOGIA, 48, A140 - A140

• Protein profiling of INS1E cells by two-dimensional gel electrophoresis and mass spectrometry

  Conference paper

  Ahmed M. et al, (2005), DIABETOLOGIA, 48, A162 - A162

• PPARG P12A,Kir6.2/KCNJ11 E23K and early growth in the Northern Finland Birth Cohort of 1966

  Conference paper

  Bennett AJ. et al, (2005), DIABETOLOGIA, 48, A112 - A112

• Positional candidate gene selection on chromosome 1q using bioinformatics and large scale association analysis

  Conference paper

  Rayner W. et al, (2005), DIABETOLOGIA, 48, A108 - A108

• Linkage disequilibrium mapping of the type 2 diabetes susceptibility variants on chromosome Iq in European populations

  Conference paper

  Zeggini E. et al, (2005), DIABETOLOGIA, 48, A128 - A128

• How useful is the fine-scale mapping of complex trait linkage peaks? Evaluating the impact of additional microsatellite genotyping on the posterior probability of linkage.

  Journal article

  Wiltshire S. et al, (2005), Genet Epidemiol, 28, 1 - 10

• Genotype and beta cell response to therapy in a large type 2 diabetic cohort

  Conference paper

  Powell BL. et al, (2005), DIABETOLOGIA, 48, A101 - A102

• Genetic variations in the gene encoding TFAP2B are associated with type 2 diabetes mellitus.

  Journal article

  Maeda S. et al, (2005), J Hum Genet, 50, 283 - 292

• Assessment of the role of genetic variation in the transient neonatal diabetes (TNDM) region on chromosome 6q24 in type 2 diabetes: a comparative genomic and haplotype approach

  Conference paper

  Gloyn AL. et al, (2005), DIABETOLOGIA, 48, A119 - A119

• Early life factors and blood pressure at age 31 years in the 1966 northern Finland birth cohort.

  Journal article

  Järvelin MR. et al, (2004), Hypertension, 44, 838 - 846

• Association studies of insulin receptor substrate 1 gene (IRS1) variants in type 2 diabetes samples enriched for family history and early age of onset.

  Journal article

  Zeggini E. et al, (2004), Diabetes, 53, 3319 - 3322

• Analysis of the contribution to type 2 diabetes susceptibility of sequence variation in the gene encoding stearoyl-CoA desaturase, a key regulator of lipid and carbohydrate metabolism.

  Journal article

  Liew CF. et al, (2004), Diabetologia, 47, 2168 - 2175

• Common variants of the hepatocyte nuclear factor-4alpha P2 promoter are associated with type 2 diabetes in the U.K. population.

  Journal article

  Weedon MN. et al, (2004), Diabetes, 53, 3002 - 3006

• Variation at the insulin gene VNTR (variable number tandem repeat) polymorphism and early growth: studies in a large Finnish birth cohort.

  Journal article

  Bennett AJ. et al, (2004), Diabetes, 53, 2126 - 2131

• Large-scale association studies of candidate genes and their interactions in Type 2 diabetes

  Conference paper

  Zeggini E. et al, (2004), DIABETOLOGIA, 47, A141 - A141

• Remapping the insulin gene/IDDM2 locus in type 1 diabetes.

  Journal article

  Barratt BJ. et al, (2004), Diabetes, 53, 1884 - 1889

• Large-scale studies of the HphI insulin gene variable-number-of-tandem-repeats polymorphism in relation to Type 2 diabetes mellitus and insulin release.

  Journal article

  Hansen SK. et al, (2004), Diabetologia, 47, 1079 - 1087

• Role of the D76N polymorphism of insulin promoter factor-1 in predisposing to Type 2 diabetes.

  Journal article

  Owen KR. et al, (2004), Diabetologia, 47, 957 - 958

• Prevalence of polycystic ovaries in women with self-reported symptoms of oligomenorrhoea and/or hirsutism: Northern Finland Birth Cohort 1966 Study.

  Journal article

  Taponen S. et al, (2004), Hum Reprod, 19, 1083 - 1088

• Metabolic cardiovascular disease risk factors in women with self-reported symptoms of oligomenorrhea and/or hirsutism: Northern Finland Birth Cohort 1966 Study.

  Journal article

  Taponen S. et al, (2004), J Clin Endocrinol Metab, 89, 2114 - 2118

• Large-scale analysis of the relationship between CYP11A promoter variation, polycystic ovarian syndrome, and serum testosterone.

  Journal article

  Gaasenbeek M. et al, (2004), J Clin Endocrinol Metab, 89, 2408 - 2413

• Progress in defining the molecular basis of type 2 diabetes mellitus through susceptibility-gene identification.

  Journal article

  McCarthy MI., (2004), Hum Mol Genet, 13 Spec No 1, R33 - R41

• Manifestations of metabolic syndrome after hypertensive pregnancy.

  Journal article

  Pouta A. et al, (2004), Hypertension, 43, 825 - 831

• Heritability estimates for beta cell function and features of the insulin resistance syndrome in UK families with an increased susceptibility to type 2 diabetes.

  Journal article

  Mills GW. et al, (2004), Diabetologia, 47, 732 - 738

• Variation at the IRF2 gene and susceptibility to psoriasis in chromosome 4q-linked families.

  Journal article

  Parkinson J. et al, (2004), J Invest Dermatol, 122, 640 - 643

• Evidence from a large U.K. family collection that genes influencing age of onset of type 2 diabetes map to chromosome 12p and to the MODY3/NIDDM2 locus on 12q24.

  Journal article

  Wiltshire S. et al, (2004), Diabetes, 53, 855 - 860

• Genetics for Endocrinologists: The Molecular Genetic Basis of Endocrine Disorders.

  Journal article

  McCarthy MI. and Gloyn AL., (2003), Clin Endocrinol (Oxf), 59

• Strategies for positional cloning within regions of established linkage: case selection using IBD status on power of case control studies

  Conference paper

  McCarthy MI. and Whittaker JC., (2003), AMERICAN JOURNAL OF HUMAN GENETICS, 73, 613 - 613

• Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility.

  Journal article

  Weedon MN. et al, (2003), Am J Hum Genet, 73, 1208 - 1212

• How useful is fine mapping complex trait linkage scan peaks?

  Conference paper

  Wiltshire S. et al, (2003), AMERICAN JOURNAL OF HUMAN GENETICS, 73, 496 - 496

• Application of eVOC: controlled vocabularies for unifying gene expression data.

  Journal article

  Hide W. et al, (2003), C R Biol, 326, 1089 - 1096

• Insulin resistance and beta-cell dysfunction in normoglycaemic European women with a history of gestational diabetes.

  Journal article

  Kousta E. et al, (2003), Clin Endocrinol (Oxf), 59, 289 - 297

• Susceptibility effects of variation at the IDDM2 (Insulin-gene) locus in latent autoimmune diabetes in adults (LADA).

  Conference paper

  Desai M. et al, (2003), DIABETOLOGIA, 46, A16 - A16

• Differential hypothalamic gene expression profile after, intracerebroventricular infusion of lipids for 48h in Wistar rats.

  Conference paper

  Clement L. et al, (2003), DIABETOLOGIA, 46, A230 - A231

• A meta-analysis of four European genome screens (GIFT Consortium) shows evidence for a novel region on chromosome 17p11.2-q22 linked to type 2 diabetes.

  Journal article

  Demenais F. et al, (2003), Hum Mol Genet, 12, 1865 - 1873

• Young-onset type 2 diabetes families are the major contributors to genetic loci in the Diabetes UK Warren 2 genome scan and identify putative novel loci on chromosomes 8q21, 21q22, and 22q11.

  Journal article

  Frayling TM. et al, (2003), Diabetes, 52, 1857 - 1863

• eVOC: a controlled vocabulary for unifying gene expression data.

  Journal article

  Kelso J. et al, (2003), Genome Res, 13, 1222 - 1230

• Body size from birth to adulthood as a predictor of self-reported polycystic ovary syndrome symptoms.

  Journal article

  Laitinen J. et al, (2003), Int J Obes Relat Metab Disord, 27, 710 - 715

• Genetic variation in the small heterodimer partner gene and young-onset type 2 diabetes, obesity, and birth weight in U.K. subjects.

  Journal article

  Mitchell SM. et al, (2003), Diabetes, 52, 1276 - 1279

• Association and haplotype analysis of the insulin-degrading enzyme (IDE) gene, a strong positional and biological candidate for type 2 diabetes susceptibility.

  Journal article

  Groves CJ. et al, (2003), Diabetes, 52, 1300 - 1305

• ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy.

  Journal article

  Müllenbach R. et al, (2003), J Med Genet, 40

• Growing evidence for diabetes susceptibility genes from genome scan data.

  Journal article

  McCarthy MI., (2003), Curr Diab Rep, 3, 159 - 167

• Estimation and testing of parent-of-origin effects for quantitative traits.

  Journal article

  Whittaker JC. et al, (2003), Am J Hum Genet, 72, 1035 - 1039

• ABCB4 sequence variation in women with intrahepatic cholestasis of pregnancy

  Conference paper

  Mullenbach R. et al, (2003), JOURNAL OF HEPATOLOGY, 38, 213 - 213

• Large-scale association studies of variants in genes encoding the pancreatic β-cell K<inf>ATP</inf> channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes

  Journal article

  Gloyn AL. et al, (2003), Diabetes, 52, 568 - 572

• New methods for finding disease-susceptibility genes: impact and potential.

  Journal article

  McCarthy MI. et al, (2003), Genome Biol, 4

• Evaluating the results of genomewide linkage scans of complex traits by locus counting.

  Journal article

  Wiltshire S. et al, (2002), Am J Hum Genet, 71, 1175 - 1182

• Evaluating results from genome-wide linkage scans of complex discrete traits by locus counting.

  Conference paper

  Wiltshire S. et al, (2002), AMERICAN JOURNAL OF HUMAN GENETICS, 71, 575 - 575

• Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome.

  Journal article

  Haddad L. et al, (2002), J Clin Endocrinol Metab, 87, 2606 - 2610

• Study of genes and environmental factors in complex diseases.

  Journal article

  Burton P. et al, (2002), Lancet, 359, 1155 - 1156

• Evidence for linkage of stature to chromosome 3p26 in a large U.K. Family data set ascertained for type 2 diabetes.

  Journal article

  Wiltshire S. et al, (2002), Am J Hum Genet, 70, 543 - 546

• A genome scan for quantitative trait loci influencing age of disease onset and central obesity in a UK population with type 2 diabetes.

  Journal article

  Wiltshire S. et al, (2001), AMERICAN JOURNAL OF HUMAN GENETICS, 69, 535 - 535

• Studies of association between the gene for calpain-10 and type 2 diabetes mellitus in the United Kingdom.

  Journal article

  Evans JC. et al, (2001), Am J Hum Genet, 69, 544 - 552

• A genomewide scan for loci predisposing to type 2 diabetes in a U.K. population (the Diabetes UK Warren 2 Repository): analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome 1q.

  Journal article

  Wiltshire S. et al, (2001), Am J Hum Genet, 69, 553 - 569

• Linkage analysis in the Diabetes (UK) Warren 2 sibpair repository supports localisation of a type 2 diabetes susceptibility gene to chromosome 1q21-24.

  Journal article

  McCarthy MI. et al, (2001), DIABETOLOGIA, 44, A37 - A37

• Prevalence and features of pancreatic islet cell autoimmunity in women with gestational diabetes from different ethnic groups.

  Journal article

  Kousta E. et al, (2001), BJOG, 108, 716 - 720

• The genetics of type 2 diabetes.

  Journal article

  McCarthy M. and Menzel S., (2001), Br J Clin Pharmacol, 51, 195 - 199

• The BDA Warren Type 2 Diabetes Sibpair Repository: Susceptibility regions identified by genome scan of 439 European families

  Journal article

  McCarthy MI. et al, (2000), DIABETOLOGIA, 43, A50 - A50

• No evidence for linkage at candidate type 2 diabetes susceptibility loci on chromosomes 12 and 20 in United Kingdom Caucasians.

  Journal article

  Frayling TM. et al, (2000), J Clin Endocrinol Metab, 85, 853 - 857

• Analysis of parent-offspring trios provides evidence for linkage and association between the insulin gene and type 2 diabetes mediated exclusively through paternally transmitted class III variable number tandem repeat alleles.

  Journal article

  Huxtable SJ. et al, (2000), Diabetes, 49, 126 - 130

• Parent-offspring trios: a resource to facilitate the identification of type 2 diabetes genes.

  Journal article

  Frayling TM. et al, (1999), Diabetes, 48, 2475 - 2479

• Type 2 diabetes and the human homolog of the rat insulin resistance gene, CD36: No linkage or association in Europeans

  Journal article

  McCarthy MI. et al, (1999), DIABETOLOGIA, 42, A118 - A118

• Association of insulin gene VNTR polymorphism with polycystic ovary syndrome - Reply

  Journal article

  Bennett ST. et al, (1997), LANCET, 349, 1771 - 1772

• No evidence for excess allele-sharing on chromosome 2q (region of NIDDM1) in a large sibship collection

  Journal article

  Cassell P. et al, (1997), DIABETOLOGIA, 40, 613 - 613

• Linkage and association of insulin gene VNTR regulatory polymorphism with polycystic ovary syndrome.

  Journal article

  Waterworth DM. et al, (1997), Lancet, 349, 986 - 990

• Evidence that a locus for familial psoriasis maps to chromosome 4q.

  Journal article

  Matthews D. et al, (1996), Nat Genet, 14, 231 - 233

• Chromosome 4q locus associated with insulin resistance in Pima Indians. Studies in three European NIDDM populations.

  Journal article

  Humphreys P. et al, (1994), Diabetes, 43, 800 - 804

• Whole genome sequencing coupled to imputation discovers genetic signals for anthropometric traits

  Journal article

  Tachmazidou I. and McCarthy M., American Journal of Human Genetics

• Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation.

  Journal article

  Kato N. et al, Nat Genet, 47, 1282 - 1293

• The genetic architecture of type 2 diabetes.

  Journal article

  Fuchsberger C. et al, Nature, 536, 41 - 47

• Systematic Dissection of the Genetic Landscape of Renal Complications in Type 1 Diabetes

  Journal article

  Sandholm N. et al, Journal of the American Society of Nephrology

• Study Profile: The Durban Diabetes Study (DDS): a platform for chronic disease research

  Journal article

  Hird TR. and Mccarthy M., Global Health, Epidemiology and Genomics

• Rare and low-frequency coding variants alter human adult height.

  Conference paper

  Marouli E. et al, Nature, 542, 186 - 190

• Exposing the exposures responsible for type 2 diabetes and obesity.

  Journal article

  Franks PW. and McCarthy MI., Science, 354, 69 - 73

• Diabetes and Cause-Specific Mortality in Mexico City.

  Journal article

  Alegre-Díaz J. et al, N Engl J Med, 375, 1961 - 1971

• Detection of human adaptation during the past 2000 years.

  Journal article

  Field Y. et al, Science, 354, 760 - 764

• Decreased STARD10 expression is associated with defective insulin secretion in humans and mice

  Conference paper

  Carrat G. et al

• Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease.

  Journal article

  Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia Investigators None. et al, N Engl J Med, 374, 1134 - 1144

• A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape.

  Journal article

  Ried JS. et al, Nat Commun, 7

• A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape in >170,000 individuals of the GIANT Consortium

  Journal article

  Ried JS. et al, Nature Communications

Selected Publications

• Genome-wide associations for birth weight and correlations with adult disease.

  Journal article

  Horikoshi M. et al, (2016), Nature, 538, 248 - 252

• The genetic architecture of type 2 diabetes.

  Journal article

  Fuchsberger C. et al, Nature, 536, 41 - 47

Recent Publications

• A Genome-Wide Association Study of IVGTT-Based Measures of First-Phase Insulin Secretion Refines the Underlying Physiology of Type 2 Diabetes Variants.

  Journal article

  Wood AR. et al, (2017), Diabetes, 66, 2296 - 2309

• Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness

  Journal article

  Willems SM. et al, (2017), Nature Communications, 8

• 10 Years of GWAS Discovery: Biology, Function, and Translation.

  Journal article

  Visscher PM. et al, (2017), Am J Hum Genet, 101, 5 - 22

• Dr Fauconnier talks to genomics expert, Prof. McCarthy

  Journal article

  McCarthy MI., (2017), CARDIOVASCULAR RESEARCH, 113, E26 - E26

• A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk.

  Journal article

  Manning A. et al, (2017), Diabetes, 66, 2019 - 2032