Open AccessType 1 diabetes genome‐wide association studies: not to be lost in translation
Author(s) -
Pociot Flemming
Publication year - 2017
Publication title -
clinical and translational immunology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.321
H-Index - 34
ISSN - 2050-0068
DOI - 10.1038/cti.2017.51
Subject(s) - genome wide association study , genetic association , disease , biology , heritability , missing heritability problem , population , genetics , computational biology , medicine , genetic variants , single nucleotide polymorphism , gene , genotype , environmental health
Genetic studies have identified >60 loci associated with the risk of developing type 1 diabetes (T1D). The vast majority of these are identified by genome‐wide association studies (GWAS) using large case–control cohorts of European ancestry. More than 80% of the heritability of T1D can be explained by GWAS data in this population group. However, with few exceptions, their individual contribution to T1D risk is low and understanding their function in disease biology remains a huge challenge. GWAS on its own does not inform us in detail on disease mechanisms, but the combination of GWAS data with other omics‐data is beginning to advance our understanding of T1D etiology and pathogenesis. Current knowledge supports the notion that genetic variation in both pancreatic β cells and in immune cells is central in mediating T1D risk. Advances, perspectives and limitations of GWAS are discussed in this review.