Review Article

Genetics of Type 2 Diabetes: Insights into the Pathogenesis and Its Clinical Application

Table 1

European-derived susceptibility loci for type 2 diabetes.

LocusSNPChr.Position Allele (risk/other)RAF*ORProbable mechanism

2000PPARγ [8]rs1801282 312368125C/G0.921.14Insulin actionCandidate and large-scale association study
2003KCNJ11 [9] rs5219 1117366148T/C0.51.14β-Cell functionCandidate and large-scale association study
2006TCF7L2 [10]rs7903146 10114748339T/C0.251.37β-Cell functionCandidate and large-scale association study
2007WFS1 [11]rs1001013146343816G/A0.61.11β-Cell functionCandidate and large-scale association study
2007HNF1B [12] rs443079617rs4430796A/G0.471.1β-Cell functionCandidate and large-scale association study
2007IGF2BP2 [1315]rs44029603186994381T/G0.291.14β-Cell functionGWAS
2007CDKN2A-CDKN2B [1315]rs108116619rs10811661T/C0.791.2β-Cell functionGWAS
2007CDKAL1 [1316]rs10946398620769013C/A0.311.12β-Cell functionGWAS
2007SLC30A8 [17] rs13266634 8118253964C/T0.751.12β-Cell functionGWAS
2007HHEX/IDE [17]rs1111875 1094452862C/T0.561.13β-Cell functionGWAS
2007FTO [13, 15, 18] rs805013616rs8050136A/C0.451.17ObesityGWAS
2008NOTCH2 [19] rs109239311120230001T/G0.1061.13UnknownGWAS
2008ADAMTS9 [19]rs4607103364686944C/T0.7611.09Insulin actionGWAS
2008THADA [19] rs7578597243644474T/C0.9021.15β-Cell functionGWAS
2008TSPAN8/LGR5 [19] rs79615811269949369C/T0.2691.09β-Cell functionGWAS
2008CDC123/CAMK1D [19] rs127797901012368016G/A0.1831.11β-Cell functionGWAS
2008JAZF1 [19]rs864745728147081T/C0.5011.1β-Cell functionGWAS
2009MTNR1B [20] rs13871531192313476T/C0.2831.15β-Cell functionGWAS
2009IRS1 [21]rs29436412226801989C/T0.6331.19Insulin actionGWAS
2010DGKB/TMEM195 [22] rs2191349715030834T/G0.3331.06β-Cell functionGWAS
2010GCKR [22] rs780094227594741C/T0.3941.06Insulin actionGWAS
2010GCK [22]rs4607517744202193A/G0.1951.07β-Cell functionGWAS
2010PROX1 [22]rs3408741212225879C/T0.4921.07β-Cell functionGWAS
2010ADCY5 [22]rs117080673124548468A/G0.2261.12β-Cell functionGWAS
2010RBMS1/ITGB6 [23]rs75937302160879700C/T0.230.9Insulin actionGWAS
2010KCNQ1 [24]rs231362112648047G/A0.521.08β-Cell functionGWAS
2010DUSP9 [24]rs5945326X 152553116A/G0.791.27Insulin actionGWAS
2010PRC1 [24]rs80426801589322341A/C0.221.07UnknownGWAS
2010ZFAND6 [24]rs116343971578219277G/A0.61.06UnknownGWAS
2010HNF1A [24]rs795719712119945069T/A0.851.07UnknownGWAS
2010HMGA2 [24]rs15313431264461161C/G0.11.1Insulin actionGWAS
2010CENTD2 [24]rs15522241172110746A/C0.881.14β-Cell functionGWAS
2010CHCHD9 [24]rs13292136981141948C/T0.931.11UnknownGWAS
2010TP53INP1 [24]rs896854896029687T/C0.481.06UnknownGWAS
2010KLF14 [24]rs9722837130117394G/A0.551.07Insulin actionGWAS
2010ZBED3 [24]rs4457053576460705G/A0.261.08UnknownGWAS
2010BCL11A [24]rs243021260438323A/G0.461.08UnknownGWAS
2012HMG20A [25] rs7177055 1575,619,817A/G0.681.08UnknownGWAS
2012GRB14 [25] rs13389219 2165,237,122C/T0.61.07Insulin actionGWAS
2012ZMIZ1 [25]rs125717511080,612,637A/G0.521.08UnknownGWAS
2012ANK1 [25]rs516946841,638,405C/T0.761.09β-cell functionGWAS
2012KLHDC5 [25] rs10842994 1227,856,417C/T0.81.1UnknownGWAS
2012TLE1 [25]rs2796441 983,498,768G/A0.571.07UnknownGWAS
2012ANKRD55 [25] rs459193 555,842,508G/A0.71.08Insulin actionGWAS
2012CILP2 [25]rs10401969 1919,268,718C/T0.081.13UnknownGWAS
2012MC4R [25]rs12970134 1856,035,730A/G0.271.08UnknownGWAS
2012BCAR1 [25]rs7202877 1673,804,746T/G0.891.12β-Cell functionGWAS

Data were derived from HapMap East Asian or original studies. Position is given for NCBI Build 36.
SNP: single nucleotide polymorphism; Chr.: chromosome; RAF: risk allele frequency; OR: odds ratio.