期刊
NATURE GENETICS
卷 46, 期 3, 页码 294-+出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.2882
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资金
- Lundbeck Foundation (Lundbeck Foundation Centre for Applied Medical Genomics in Personalised Disease Prediction, Prevention and Care (LuCamp)
- Danish Council for Independent Research
- Novo Nordisk Foundation Center for Basic Metabolic Research is an independent research center at the University of Copenhagen
- Novo Nordisk Foundation
Through whole-genome sequencing of 2,630 Icelanders and imputation into 11,114 Icelandic cases and 267,140 controls followed by testing in Danish and Iranian samples, we discovered 4 previously unreported variants affecting risk of type 2 diabetes (T2D). A low-frequency (1.47%) variant in intron 1 of CCND2, rs76895963[G], reduces risk of T2D by half (odds ratio (OR) = 0.53, P = 5.0 x 10(-21)) and is correlated with increased CCND2 expression. Notably, this variant is also associated with both greater height and higher body mass index (1.17 cm per allele, P = 5.5 x 10(-12) and 0.56 kg/m(2) per allele, P = 6.5 x 10(-7), respectively). In addition, two missense variants in PAM, encoding p. Asp563Gly (frequency of 4.98%) and p. Ser539Trp (frequency of 0.65%), confer moderately higher risk of T2D (OR = 1.23, P = 3.9 x 10(-10) and OR = 1.47, P = 1.7 x 10(-5), respectively), and a rare (0.20%) frameshift variant in PDX1, encoding p.Gly218Alafs*12, associates with high risk of T2D (OR = 2.27, P = 7.3 x 10(-7)).
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