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. 2019 Jan 24;33(4):534–541. doi: 10.1038/s41433-019-0337-y

Table 1.

List of genes associated with diabetic retinopathy

Chr Nearby genes SNPs (top signal) p value OR Type of diabetes Subjects (n) Type of DR Country Year Reference
1p5.89 MYSM1 rs2811893 3.1 × 10−7 1.5 T2D 174 patients, 575 controls PDR, NPDR Taiwan 2011 [67 GWAS]
1q23.2 CRP rs2808629 6.0 × 10-3 1.3 T2D 618 patients, 400 controls PDR, NPDR China 2015 [68]
1q24.2 SELP rs6128 1.0 × 10−4 0.43 T2D 6639 patients, 4047 controls PDR International 2011 [11]
1q24.2 GORAB rs6427247 3.3 × 10−2 1.37 T2D 819 patients, 1153 controls PDR, NPDR China 2015 [62]
4.6 × 10−4 2.17 T2D 103 patients, 183 controls PDR, NPDR USA-Mexico 2010 [36 GWAS]
1q44 AKT3, ZBTB18 rs476141 1.2 × 10−7 1.37 T1D 973 patients, 1856 controls PDR USA 2011 [61 GWAS]
2p25.3 MYT1L rs10199521  2.2 × 10−2 1.25 T2D 309 patients, 1490 controls PDR China 2016 [69]
2q31.1 LRP2, BBS5 rs1399634 2.0 × 10−6 1.50 T2D 437 patients, 570 controls PDR, NPDR China 2013 [25 GWAS]
2q36.3 SLC19A3 rs6713116 3.2 × 10−6 0.41 T1D 1,566 patients, 218 controls NPDR Finland 2016 [70 GWAS]
2q37.2 ARL4C, SH3BP4 rs2380261 2.1 × 10−6 1.50 T2D 437 patients, 570 controls PDR, NPDR China 2013 [25 GWAS]
3p25 PPARG rs1801282 9.7 × 10−3 0.73 T1D 518 patients, 1389 controls PDR, NPDR USA-Canada 2015 [19]
3q22.1 BFSP2 rs1197310 3.4 × 10−4 2.25 T2D 103 patients, 183 controls PDR, NPDR USA-Mexico 2010 [36 GWAS]
4p16.3 IDUA rs6856425 2.1 × 10−5 2.88 T2D 969 patients, 1789 controls PDR International 2011 [11]
4q32.1 NPY2R rs1902491 2.8 × 10−5 - T1D 208 patients, 261 controls PDR USA 2012 [21]
4q12 CEP135 rs4865047 2.1 × 10−5 - T1D 208 patients, 261 controls PDR USA 2012 [21]
5q9.35 KIAA0825 rs17376456 3.0 × 10−15 3.63 T2D 174 patients, 575 controls PDR, NPDR Taiwan 2011 [67 GWAS]
5q14 EDIL3 rs1445754 3.4 × 10−4 0.37 T2D 103 patients, 183 controls PDR, NPDR USA-Mexico 2010 [36 GWAS]
5q21 CAMK4 rs2300782 6.0 × 10−5 2.64 T2D 103 patients, 183 controls PDR, NPDR USA-Mexico 2010 [36 GWAS]
5q23.3 RPSAP37,GRAMD3 rs1073203 2.7 × 10−2 1.4 T1D, T2D 163 patients, 300 controls PDR, NPDR Australia 2014 [71]
6p11-12 TINAG rs6909083 1.8 × 10−5 - TD2 103 patients, 183 controls PDR, NPDR USA-Mexico 2010 [36 GWAS]
6q14.3 CEP162 rs9362054 1.4 × 10−7 1.36 T2D 837 patients, 1149 controls NPDR Japan 2014 [72 GWAS]
6q22 TBC1D32 rs17083119 2.8 × 10−5 - TD2 103 patients, 183 controls PDR, NPDR USA-Mexico 2010 [36 GWAS]
7p15.1 CPVL, CHN2 rs39059 3 × 10−4 1.29 T2D 805 patients, 1017 controls PDR, NPDR China 2011 [73]
9p21.33 FRMD3 rs10868025 3.4 × 10−2 0.83 T2D 618 patients, 280 controls PDR, NPDR China 2011 [73]
10p4.93 ARHGAP22 rs4838605 1.9 × 10−9 1.65 T2D 174 patients, 575 controls PDR, NPDR Taiwan 2011 [67 GWAS]
10p2.06 PLXDC2 rs12219125 7.2 × 10−3 1.40 T1D 518 patients, 1389 controls PDR, NPDR USA- Canada 2015 [19]
9.3 × 10−9 1.67 T2D 174 patients, 575 controls PDR, NPDR Taiwan 2011 [67 GWAS]
10q25.3 TCF7L2 rs7903146 4.0 × 10−4 1.77 T2D 154 patients, 171 controls PDR Italy 2013 [43]
11p12 API5 rs899036 5.0 × 10−4 0.34 T2D 819 patients, 1153 controls PDR, NPDR China 2015 [62]
rs899036 2.5 × 10−4 0.32 T2D 103 patients, 183 controls PDR, NPDR USA-Mexico 2010 [36 GWAS]
11p15.1 KCNJ11 rs5219 1.0 × 10−3 1.61 T2D 105 patients, 475 controls NPDR China 2015 [23]
11q22.1 CNTN5 rs10501943 2.5 × 10−4 3.04 T2D 103 patients, 183 controls PDR, NPDR USA-Mexico 2010 [36 GWAS]
13q9.57 HS6ST3 rs2038823 4.7 × 10−11 2.33 T2D 174 patients, 575 controls PDR, NPDR Taiwan 2011 [67 GWAS]
13q22.2 TBC1D4 rs9565164 1.3 × 10−7 1.70 T2D 437 patients, 570 controls PDR, NPDR China 2013 [25 GWAS]
15q13 FMN1 rs11635920 7.2 × 10−5 - T2D 103 patients, 183 controls PDR, NPDR USA-Mexico 2010 [36 GWAS]
16p28.5 CCDC101 rs10521145 3.4 × 10−6 0.58 T1D 281 patients, 1715 controls PDR USA 2011 [61 GWAS]
16q22.3 ZNRF1 rs17684886 3.9 × 10−3 0.81 T2D 819 patients, 1153 controls PDR, NPDR China 2015 [62]
17q25.1 GRB2 rs9896052 4.2 × 10−8 - T1D, T2D 1175 patients, 1319 controls PDR, NPDR Australia-India 2015 [74]
18p11.2 COLEC12 rs599019 4.1 × 10−4 0.15 T2D 103 patients, 183 controls PDR, NPDR USA-Mexico 2010 [36 GWAS]
rs599019 1.2 × 10−2 0.84 T2D 819 patients, 1153 controls PDR, NPDR China 2015 [62]
19p13.2 INSR rs2115386 1.1 ×10−4 1.44 T2D 309 patients, 1490 controls PDR China 2016 [69]
rs2115386 9.1×10−4 1.28 T2D 567 patients, 1490 controls NPDR China 2016 [69]