Table 4.

Summary of Genome-wide association studies of diabetic retinopathy

Ethnicity	Type of Diabetes	Sample Size		Platform and Number of SNPs	Covariates	Top SNPs	Region	Risk Allele	Odds Ratio	P-value	Gene(s)	References
Ethnicity	Type of Diabetes	Cases (defined)	Controls (defined)	Platform and Number of SNPs	Covariates	Top SNPs	Region	Risk Allele	Odds Ratio	P-value	Gene(s)	References
Mexican-Americans	2	103 (moderate-to-severe NPDR and PDR)	183 (Normal to early NPDR)	Affymetrix GeneChip 100K; 421,010 SNPs (imputed)	age, gender, diabetes duration and HbA1c	rs6909083	6p12	NA	NA	2 × 10-5	TINAG	²⁵

						rs17083119	6q22	NA	NA	3 × 10-5	C6orf170

						rs2300782	5q22	A	2.64	6 × 10-5	CAMK4

						rs10519765	15q13	G	3.33	6 × 10-5	FMN1

						rs899036	11p12	A	3.13	3 × 10-4	API5

						rs10501943	11q22	C	3.04	3 × 10-4	CNTN5

Taiwanese (Chinese)	2	174 (NPDR and PDR)	575 diabetics (no DR) and 100 nondiabetics	Illumina HumanHap550; 550K SNPs	diabetes duration and HbA1c	rs17376456	5q15	A	3.63^*	3 × 10-15^†	C5orf36	²⁶

						rs2038823	13q32	C	2.33^*	5 × 10-11^†	HS6ST3

						rs4838605	10q11	C	1.58^*	2 × 10-9^†	ARHGAP22

						rs12219125	10p12	T	1.62^*	9 × 10-9^†	PLXDC2-NEBL

						rs4462262	10q21	C	1.54^*	9 × 10-8^†	ZWINT-MRPS35P3

						rs2811893	1p32	T	1.50^*	3 × 10-7^†	MYSM1

						rs1571942	10p12	C	1.67^*	3 × 10-7^†	PLXDC2

						rs4470583	4q32	A	1.16^*	4 × 10-7^†	RPS14P7 -FSTL5

Caucasians (GoKinD and EDIC)	1	973 (PDR and DME)	1856 (all others, including NPDR)	Affy 5.0 and Illumina HumanHap550; 2,543,887 SNPs (imputed)	no adjustments	rs476141	1q44	A	1.37	1 × 10-7	AKT3 and ZNF238	²⁷

						rs4787008	16p13	G	1.47	6 × 10-7	RBFOX1

						rs13064954	3q25	G	1.02	7 × 10-7	LEKR1-CCNL1

						rs9866141	3q25	T	1.02	9 × 10-7	KRT18P34-VEPH1

						rs17404956	5q34	A	1.16	1 × 10-6	RPLP0P9-ODZ2

						rs10403021	19q12	C	1.01	2 × 10-6	VSTM2B-POP4

						rs10927101	1q44	A	1.33	2 × 10-6	AKT3-ZNF238

						rs2696835	16q24	C	2.27	3 × 10-6	IRF8-FOXF1

						rs1970671	18q21	G	1.37	3 × 10-6	MAP1LC3P-TCF4

						rs2115386	19p13	C	1.12	3 × 10-6	INSR

						rs10199521	2p25	T	1.46	3 × 10-6	MYT1L-TSSC1

						rs7772697	6q25	T	1.35	3 × 10-6	UST-TAB2

						rs6702784	1p34	C	1.08	4 × 10-6	OSCP1

						rs1342038	1q25	G	1.49	4 × 10-6	TNFSF4-RPL26P11

						rs3007729	1p36	T	1.35	5 × 10-6	IGSF21-KLHDC7A

						rs10910200	1q42	G	1.35	6 × 10-6	KIAA1804-KCNK1

						rs11867934	17p11	C	1.43	7 × 10-6	TNFRSF13B-MPRIP

						rs11765845	7p15	A	1.02	7 × 10-6	CREB5

						rs1073203	5q23	G	1.54	9 × 10-6	RPSAP37-GRAMD3

Taiwanese (Chinese)	2	437 (PDR)	570 diabetics ≥8 years (no DR)	Illlumina OmniExpress; 2,166,765 (imputed)	no adjustments; age and gender	rs9565164	13q22.2	C	1.7	1.3 × 10-7	TBC1D4-COMMD6-UCHL3	²⁸

						rs1399634	2q31.1	A	1.5	2.0× 10-6	LRP2-BBS5

						rs2380261	2q37.2	T	1.5	2.1× 10-6	ARL4C-SH3BP4

Dominant model;

^†

Determined by the most significant P-value from 6 genetic models (genotype, allele, trend, additive, dominant, and recessive)