Chromosome 15q21-22-related polymorphisms and haplotypes are associated with susceptibility to type-2 diabetic nonproliferative retinopathy.

OBJECTIVE

Diabetic retinopathy (DR) is a microvascular complication of diabetes with a complex multifactorial pathogenesis. We aimed to investigate whether chromosome 15q21-22-related gene polymorphisms could be used as markers of DR susceptibility in type 2 diabetic (T2D) individuals.

METHODS

Individuals were divided into three groups: (1) T2D with nonproliferative DR (NPDR; n=102); (2) T2D with proliferative DR (PDR; n=72); (3) T2D without DR (n=573). Six single-nucleotide polymorphisms (SNPs) (rs7174997, rs3751624, rs8025011, rs17818837, rs2922220, and rs2414520) lying within chromosome 15q21-22 region were genotyped by using Illumina HumanHap550-Duo BeadChips. Genotypes/allelic frequencies and haplotypes for these polymorphisms in each group were compared.

RESULTS

The MYO5C related SNP (rs3751624)A related genotype and allele are associated with higher susceptibilities to DR, including PDR and NPDR. The rs3751624GG/AA+AG percentages in each group are (1) 75.5%/24.5%, (2) 73.6%/26.4%, and (3) 82.5%/17.5%. In contrast, the other five SNPs in each group were not significantly different. One haplotype (G-A-G-G-T-G) appears significantly different between T2D individuals with and without DR. Other haplotype distributions were not significantly different between each group.

CONCLUSION

The MYO5C related SNP (rs3751624)A related genotype/allele and haplotype (G-A-G-G-T-G) might be associated with susceptibility for retinopathy in T2D individuals. Some chromosome 15q21-22 related genetic variations might contribute to the pathogenesis of DR.