中国汉族人群中补体C5基因多态性与2型糖尿病增殖性糖尿病视网膜病变的关联
Association of Complement C5 Gene Polymorphisms with Proliferative Diabetic Retinopathy of Type 2 Diabetes in a Chinese Han Population.
作者信息
Xu Dengfeng, Yi Hong, Yu Shizhi, Li Xiaosong, Qiao Yanbin, Deng Weiwei
机构信息
Chongqing General Hospital, Chongqing EYE and ENT Hospital, Chongqing, P R China.
Chongqing Center for Clinical Laboratory, Chongqing Municipal People's Hospital, Chongqing, P R China.
出版信息
PLoS One. 2016 Mar 2;11(3):e0149704. doi: 10.1371/journal.pone.0149704. eCollection 2016.
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.
目的
研究补体C5单核苷酸多态性（SNPs）与2型糖尿病（T2D）增殖性糖尿病视网膜病变（PDR）的相关性。
方法
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法，对400例T2D合并PDR患者（病例组）和600例T2D合并非增殖性糖尿病视网膜病变（NPDR）患者（对照组）进行4个C5 SNPs（rs2269067、rs7040033、rs1017119和rs7027797）基因分型。通过实时荧光定量PCR检测mRNA表达。采用酶联免疫吸附测定法（ELISA）检测细胞因子产生情况。
结果
与对照组相比，病例组中C5 rs2269067的GG基因型频率显著增加（Pc = 3.4×10⁻⁵，比值比[OR]=1.87）。与CG或CC基因型病例相比，rs2269067 GG基因型病例的C5 mRNA表达显著增加（分别为P = 0.003，P = 0.001）。此外，与CG基因型病例或CC基因型病例相比，rs2269067 GG基因型病例的白细胞介素-6（IL-6）产生显著增加（分别为P = 0.002，P = 0.001）。
结论
在中国汉族人群中，C5 rs2269067 GG基因型赋予T2D患者发生PDR的风险，且与C5 mRNA表达升高和IL-6产生增加有关。
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