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. Author manuscript; available in PMC: 2017 Jul 10.
Published in final edited form as: Endocr Metab Immune Disord Drug Targets. 2010 Jun;10(2):86–108. doi: 10.2174/187153010791213100

Table 5.

Diabetes-related loci discovered via genome-wide association studies as of 3/31/10; p<5.0×10−8

Reported gene Associated SNPs Region Trait Risk allele Risk allele frequency Reference(s)

NOTCH2/ADAAM30 rs10923931 1p12 T2DM T 0.093 [61]

PROX1 rs340874 1q32.3 FPG C 0.562 [60]

THADA rs7578597 2p21 T2DM T 0.876 [61]

GCKR rs780094 2p23.3 FPG/FI/HOMA-IR C 0.606 [60]

G6PC2 rs560887 2q24.3 FPG C 0.674 [216], [200]
FPG/HOMA-B [60]

LOC64673/IRS1 rs2943641 2q36.3 T2DM C 0.633 [217]

ADAMTS9 rs4607103 3p14.1 T2DM C 0.810 [61]

ADCY5 rs11708067 3q21.1 FPG/HOMA-B A 0.774 [60]

SLC2A2 rs11920090 3q26.2 FPG T 0.853 [60]

IGF2BP2 rs4402960 3q27.2 T2DM T 0.296 [201], [126], [127]
rs6769511 T2DM C JPT: 0.318 [194]*

WFS1/PPP2R2C rs4689388 4p16.1 T2DM T 0.668 [217]

CDKAL1 rs10946398 6p22.3 T2DM C 0.336 [127]
rs4712523 T2DM G 0.336 [217]
JPT: 0.511 [190]*
rs4712524 T2DM G JPT: 0.511 [194]*
rs6931514 T2DM G 0.279 [61]
rs7754840 T2DM C 0.336 [126], [201]
rs7756992 T2DM G 0.279 [191]

GCK rs4607517 7p13 FPG A 0.195 [200]
FPG/HOMA-B [60]

JAZF1 rs864745 7p15.1 T2DM T 0.487 [61]

DGKB/TMEM195 rs2191349 7p21.2 FPG/HOMA-B T 0.467 [60]

ZMAT4 rs2722425 8p11.21 FPG A** 0.093 [195]

SLC30A8 rs11558471 8q24.11 FPG A 0.748 [60]
rs13266634 T2DM C 0.761 [201], [126], [127]
JPT: 0.556 [190]*

CDKN2A/CDKN2B rs10811661 9p21.3 T2DM T 0.801 [201], [126], [127]
rs2383208 T2DM A JPT: 0.568 [190]*

PTPRD rs17584499 9p24.1 T2DM T CHB: 0.089 [196]*

GLIS3 rs7034200 9p24.2 FPG/HOMA-B A 0.525 [60]

CDC123/CAMK1D rs12779790 10p13 T2DM G 0.229 [61]

HHEX rs1111875 10q23.33 T2DM C 0.584 [201], [126], [127]
JPT: 0.409 [190]*

ADRA2A rs10885122 10q25.2 FPG G 0.900 [60]

TCF7L2 rs4506565 10q25.2 T2DM T 0.296 [197]
FPG [60]
rs7901695 T2DM C 0.281 [127]
rs7903146 T2DM T 0.279 [191], [198], [192], [201], [126], [61], [217]
JPT: 0.023 [190]*

CRY2 rs11605924 11p11.2 FPG A 0.542 [60]

MADD rs7944584 11p11.2 FPG A 0.712 [60]

KCNJ11 rs5215 11p15.1 T2DM C 0.398 [127]
rs5219 T2DM T 0.500 [126], [201]

KCNQ1 rs2237895 11p15.4 T2DM C CHB: NR [196]*
rs2237892 T2DM C JPT: 0.611 [193]*, [190]*
rs2283228 T2DM A JPT: 0.593 [194]*

FADS1 rs174550 11q12.2 FPG/HOMA-B T 0.633 [60]

MTNR1B rs10830963 11q14.3 FPG/HOMA-B G 0.300 [60], [200]
rs1387153 FPG T 0.272 [188]
rs2166706 FPG G 0.389 [189]*
CHB: 0.489

TSPAN8/LGR5 rs7961581 12q21.1 T2DM C 0.252 [61]

IGF1 rs35767 12q23.2 FI/HOMA-IR G 0.885 [60]

C2CD4B rs11071657 15q22.2 FPG A 0.592 [60]

FTO rs8050136 16q12.2 T2DM A 0.460 [126], [127]

SRR rs391300 17p13.3 T2DM G CHB: 0.740 [196]*

HapMap release 27, CEU population unless otherwise noted;

*

Includes individuals of non-European descent;

**

minor allele and MAF reported, risk allele was not reported in paper; T2DM, type 2 diabetes mellitus; FPG, fasting plasma glucose; FI, fasting insulin; HOMA-IR, homeostatic model assessment of insulin resistance; HOMA-B, homeostatic model assessment of beta-cell function; NR, not reported