Association of Complement C5 Gene Polymorphisms with Proliferative Diabetic Retinopathy of Type 2 Diabetes in a Chinese Han Population

PLoS One. 2016 Mar 2;11(3):e0149704. doi: 10.1371/journal.pone.0149704. eCollection 2016.

Abstract

Purpose: To investigate the association of C5 SNPs with proliferative diabetic retinopathy (PDR) of type 2 diabetes (T2D).

Methods: A total of four C5 SNPs including rs2269067, rs7040033, rs1017119 and rs7027797 were genotyped in 400 PDR patients with T2D (cases) and 600 non- proliferative diabetic retinopathy PDR (NPDR) with T2D patients (controls) by using PCR-RFLP method. mRNA expression was examined by real-time PCR. Cytokine production was detected by ELISA.

Results: The frequency of GG genotype of C5 rs2269067 was significantly increased in cases compared with controls (Pc = 3.4 × 10(-5), OR = 1.87). And C5 mRNA expression was significantly increased in rs2269067 GG cases as compared with CG or CC cases (P = 0.003, P = 0.001, respectively). Moreover, the production of IL-6 was significantly increased in rs2269067 GG cases compared to CG cases or CC cases (P = 0.002, P = 0.001, respectively).

Conclusions: C5 rs2269067 GG genotype confers risk for PDR of T2D in Chinese han population and is associated with an elevated C5 mRNA expression and an increased IL-6 production.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Asian People / genetics*
  • Case-Control Studies
  • Complement C5 / genetics*
  • Diabetes Mellitus, Type 2 / genetics*
  • Diabetic Retinopathy / genetics*
  • Female
  • Gene Frequency / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Interleukin-6 / genetics
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide / genetics*
  • RNA, Messenger / genetics

Substances

  • Complement C5
  • Interleukin-6
  • RNA, Messenger

Grants and funding

This work was supported by Natural Science Foundation Major International (Regional) Joint Research Project (81320108009), Key Project of Natural Science Foundation (81130019), National Natural Science Foundation Project (31370893, 81270990), Chongqing Outstanding Youth Grant (cstc2014jcyjjq10005), and Scientific Research Foundation of Chongqing Health and Family Planning Commission (No. 2015HBRC011).