Diabetic retinopathy (DR) is considered a main cause for vision loss in diabetes. To our knowledge, there were no studies on the association of genetic variants with DR in Chinese Hui nationality. In our research, 34 single nucleotide polymorphisms (SNPs) that were reported to be associated with DR in other ethnics were genotyped in 123 subjects with DR and 12 subjects without DR among Chinese Hui population using MassARRAY system. Association analysis performed by PLINK showed three SNP loci rs2300782, rs2292239, and rs10491034 were correlated with DR incidence. Furthermore, the genotype frequency analysis and association analysis of SNP with DR stage revealed the GT and TT genotypes of rs2292239, CC genotype of rs2300782, and GG genotype of rs10491034 were risk genotypes and associated with the severity of DR, which may be helpful for the study of DR susceptibility in Chinese Hui population. Our study indicates the rs2300782 of gene CAMK4, rs2292239 of gene ERBB3, and rs10491034 of gene ARHGAP22 are associated with DR incidence and severity among Chinese Hui population.
Keywords: Chinese Hui population; diabetic retinopathy; rs10491034; rs2292239; rs2300782.