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Type 2 diabetes mellitus is not a single disease but a genetically heterogeneous group of metabolic disorders sharing glucose intolerance. The precise underlying biochemical defects are unknown and almost certainly include impairments of both insulin secretion and action. The rapidly increasing prevalence of T2D world wide makes it a major cause of morbidity and mortality. Understanding the genetic aetiology of T2D will facilitate its diagnosis, treatment and prevention. The results of linkage and association studies to date demonstrate that, as with other common diseases, multiple genes are involved in the susceptibility to T2D, each making a modest contribution to the overall risk. The completion of the draft human genome sequence and a brace of novel tools for genomic analysis promise to accelerate progress towards a more complete molecular description of T2D.

Original publication




Journal article


Best Pract Res Clin Endocrinol Metab

Publication Date





293 - 308


Animals, Diabetes Mellitus, Type 2, Genetic Linkage, Genetic Predisposition to Disease, Genotype, Humans, Insulin Resistance, Pedigree, Phenotype, Twin Studies as Topic