Review Article

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

Table 2

Type 2 diabetes susceptibility loci identified in East Asians.

LocusSNPChr.PositionAllele (risk/other)RAF*ORProbable mechanism

2009KCNQ1 [26] rs2237892112796327C/T0.6831.43β-Cell functionGWAS
2010UBE2E2 [27]rs7612463323311454A/C0.1341.19UnknownGWAS
2010C2CD4A-C2CD4B [27]rs71724321560183681A/G0.421.13UnknownGWAS
2010SPRY2 [28]rs13597901379615157G/A0.2731.15UnknownGWAS
2010CDC123/CAM K1D [28]rs109061151012355003A/G0.5611.13UnknownGWAS
2010SRR [29]rs391300172163008G/A0.3671.28β-Cell functionGWAS
2010PTPRD [29]rs1758449998869118T/C0.2261.57Insulin actionGWAS
2011MAEA [30]rs6815464 41299901C/G0.6401.13UnknownGWAS
2011PSMD6 [30]rs831571 364023337C/T0.6881.09UnknownGWAS
2011ZFAND3 [30]rs9470794 638214822C/T0.2031.12UnknownGWAS
2011GCC1-PAX4 [30]rs64671367126952194G/A0.1821.11UnknownGWAS
2011KCNK16 [30]rs1535500 639392028T/G0.3981.08β-Cell functionGWAS
2011PEPD [30]rs37868971938584848A/G0.5471.1UnknownGWAS
2011FITM2-R3HD [30]rs6017317 2042380380G/T0.5451.09β-Cell functionGWAS
2011GLIS3 [30]rs7041847 94277466A/G0.5291.1β-Cell functionGWAS
2012ANK1 [31]rs515071841,638,405C/T0.81.18UnknownGWAS
2013GRK5 [32]rs1088647110121139393C/T0.7561.12Insulin actionGWAS
2013RASGRP1 [32]rs74035311536610197T/C0.3171.1β-Cell functionGWAS
2013PAX4 [33]rs102295837127034139G/A0.8291.18UnknownGWAS
2013MIR129-LEP [34]rs7915957127650038A/G0.081.17UnknownGWAS
2013SLC16A13 [34]rs312457176881117G/A0.0781.2UnknownGWAS
2013GPSM1 [34]rs117877929138371969A/G0.8741.15UnknownGWAS

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.