Genetic Investigation of Complement Pathway Genes in Type 2 Diabetic Retinopathy: An Inflammatory Perspective

الملخص EN

Diabetic retinopathy (DR) has complex multifactorial pathogenesis.

This study aimed to investigate the association of complement pathway genes with susceptibility to DR.

Eight haplotype-tagging SNPs of SERPING1 and C5 were genotyped in 570 subjects with type 2 diabetes: 295 DR patients (138 nonproliferative DR [NPDR] and 157 proliferative DR [PDR]) and 275 diabetic controls.

Among the six C5 SNPs, a marginal association was first detected between rs17611 and total DR patients ( P = 0.009 , OR = 0.53 for recessive model).

In stratification analysis, a significant decrease in the frequencies of G allele and GG homozygosity for rs17611 was observed in PDR patients compared with diabetic controls ( P c o r r = 0.032, OR = 0.65 and P c o r r = 0.016, OR = 0.37, resp.); it was linked with a disease progression.

A haplotype AA defined by the major alleles of rs17611 and rs1548782 was significantly predisposed to PDR with increased risk of 1.54 ( P c o r r = 0.023).

Regarding other variants in C5 and SERPING1, none of the tagging SNPs had a significant association with DR and its subgroups (all P > 0.05 ).

Our study revealed an association between DR and C5 polymorphisms with clinical significance, whereas SERPING1 is not a major genetic component of DR.

Our data suggest a link of complement pathway with DR pathogenesis.