Genetic susceptibility to type 2 diabetes and obesity: from genome-wide association studies to rare variants and beyond

    116 Citations (Scopus)

    Abstract

    During the past 7 years, genome-wide association studies have shed light on the contribution of common genomic variants to the genetic architecture of type 2 diabetes, obesity and related intermediate phenotypes. The discoveries have firmly established more than 175 genomic loci associated with these phenotypes. Despite the tight correlation between type 2 diabetes and obesity, these conditions do not appear to share a common genetic background, since they have few genetic risk loci in common. The recent genetic discoveries do however highlight specific details of the interplay between the pathogenesis of type 2 diabetes, insulin resistance and obesity. The focus is currently shifting towards investigations of data from targeted array-based genotyping and exome and genome sequencing to study the individual and combined effect of low-frequency and rare variants in metabolic disease. Here we review recent progress as regards the concepts, methodologies and derived outcomes of studies of the genetics of type 2 diabetes and obesity, and discuss avenues to be investigated in the future within this research field.

    Original languageEnglish
    JournalDiabetologia
    Volume57
    Issue number8
    Pages (from-to)1528-41
    Number of pages14
    ISSN0012-186X
    DOIs
    Publication statusPublished - Aug 2014

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