Association of CFH and CFB gene polymorphisms with retinopathy in type 2 diabetic patients.
Association of CFH and CFB gene polymorphisms with retinopathy in type 2 diabetic patients.
复制标题
CFH和CFB基因多态性与2型糖尿病患者的视网膜病变的关联。
DOI：
10.1155/2013/748435
复制
发表时间：
2013
影响因子：
4.6
通讯作者：
Liu XM
中科院分区：
文献类型：
--
作者：
Wang J;Yang MM;Li YB;Liu GD;Teng Y;Liu XM
目标。补体系统是天然免疫的重要组成部分，与糖尿病视网膜病变(DR)的发病机制密切相关。本研究旨在研究补体途径中两个基因--补体因子H(CFH)和补体因子B(CFB)的多态性是否与DR方法相关。552名明确的2型糖尿病受试者，包括277名DR患者和275名糖尿病对照组。采用TaqMan基因分型方法对CFB中的rs1048709、rs537160、rs4151657、rs2072633和CFH中的rs800292(I62V)4个Tag-SNPs进行检测。结果。DR组rs1048709的A等位基因和AA等位基因频率明显高于糖尿病对照组(Pcorr=0.035，OR=1.42；Pcorr=0.02，OR=2.27)；DR组rs800292的A等位基因和AA等位基因频率明显低于糖尿病对照组(Pcorr=0.04，OR=0.72；Pcorr=0.015，OR=0.51)。同时也发现了这两个基因座的共同作用。此外，还发现rs800292/AA基因型与DR的进展延迟有关。CFH-rs800292和CFB-rs1048709与DR的存在相关，进一步证实了补体系统在DR发病机制中的重要作用。
Objectives. The complement system is a key component of innate immunity and has been implicated in the pathogenesis of diabetic retinopathy (DR). This study aimed at investigating whether polymorphisms of two genes in the complement pathway, complement factor H (CFH) and complement factor B (CFB), are associated with DR. Methods. 552 well-defined subjects with type 2 diabetes, consisting of 277 DR patients and 275 diabetic controls, were recruited. Four Tag-SNPs rs1048709, rs537160, rs4151657, and rs2072633 in CFB and rs800292 (I62V) in CFH were examined using TaqMan Genotyping Assays. Results. There were significant increases in the frequencies of A allele and AA genotype for rs1048709 in DR patients compared with diabetic controls (P corr = 0.035, OR = 1.42; P corr = 0.02, OR = 2.27, resp.): meanwhile, significant decreases in the frequencies of A allele and AA genotype for rs800292 were observed in DR patients compared with diabetic controls (P corr = 0.04, OR = 0.72; P corr = 0.015, OR = 0.51, resp.). Joint effect of these two loci was also identified. Moreover, rs800292/AA genotype was found to be related with delayed progression to DR. Conclusions. CFH-rs800292 and CFB-rs1048709 are associated with the presence of DR, which strengthens the concept that complement system plays an important role in the pathogenesis of DR.
登录
查看更多内容
影响因子：
--
作者：
Kern, Timothy S.
通讯作者：
Kern, Timothy S.
影响因子：
3.5
作者：
Rema, M;Saravanan, G;Mohan, V
通讯作者：
Mohan, V
DOI：
10.1074/jbc.m110.211839
发表时间：
2011-04-01
期刊：
The Journal of biological chemistry
影响因子：
--
作者：
Pechtl IC;Kavanagh D;McIntosh N;Harris CL;Barlow PN
通讯作者：
Barlow PN
影响因子：
3.5
作者：
Caprioli, J;Castelletti, F;Noris, M
通讯作者：
Noris, M
影响因子：
4.4
作者：
Gao, Ben-Bo;Chen, Xiaohong;Feener, Edward P.
通讯作者：
Feener, Edward P.