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Unlocking the genetic contribution to autoimmune thyroid disease (AITD) will hold one of the keys to understanding disease pathogenesis and developing improved treatments. Significant increases in our understanding of the human genome combined with methodological advances in our ability to search for genetic variation have transformed the way in which we screen the genome for susceptibility loci. From early linkage analysis through to candidate gene studies and most recently genome-wide association screening, each methodology has revealed important insights into not just the heritability of AITD but also the best way of identifying disease causing DNA variants. This review will examine each of the different genome screening techniques, highlighting the successes and failures of each methodology and the lessons learnt which have helped inform the next phase of the disease-gene identification process. We will also look to see where we should be focusing our research efforts in the future.

Original publication




Journal article


Brief Funct Genomics

Publication Date





77 - 90


Autoimmune Diseases, Genetic Linkage, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Inheritance Patterns, Thyroid Diseases