The association of five polymorphisms with diabetic retinopathy in a Chinese population

To comprehend the etiology of diabetic retinopathy (DR), it is crucial to clarify the genetic susceptibility factors for DR. Previous studies have reported that five single nucleotide polymorphisms (SNPs), including rs9362054 (near the CEP162 gene), rs1990145 (MRPL19), rs10519765 (FMN1), rs237025 (SUMO4) and rs767649 (MIR155HG) were associated with DR. This study was conducted to elucidate the association between the five SNPs and DR in a Chinese Han population.

A total of 957 individuals with type 2 diabetes mellitus (T2DM) including diabetes mellitus without retinopathy (DNR = 478), nonproliferative DR (NPDR = 384) and proliferative (PDR = 95) were recruited in this study. SNPs were genotyped using the Mass ARRAY MALDI-TOF system. The genotype and allele frequencies were determined using χ² tests. For genotype and allele risk, odds ratios (OR) and 95% confidence intervals (CI) were calculated. Four genetic models (homozygous, heterozygous, dominant, and recessive) were used to further investigate the link between the five SNPs and DR.

There was a statistically significant difference of CEP162 rs9362054 between NPDR and DNR (P = .027, OR = 1.26, 95%CI = 1.03-1.54) and a significant association of SUMO4 rs237025 detected between PDR and DNR (P = .031, OR = 1.45, 95%CI = 1.03-2.02). The association of CEP162 rs9362054 was also observed under the dominant mode (P = .03, OR = 1.35, 95%CI = 1.03-1.77). The association of SUMO4 rs237025 was found under the heterozygous model (P = .03, OR = 1.68, 95%CI = 1.06-2.69) and the dominant model (P = .02, OR = 1.70, 95%CI = 1.08-2.67). No associations of the other three SNPs with NPDR and PDR were detected when compared with DNR under these genetic models.

This study showed that rs9362054 and rs237025 were associated with NPDR and PDR when compared with DNR, suggesting that SUMO4 may be involved in the development of PDR, while CEP162 may be associated with NPDR.