国人2型糖尿病患者TLR2及TLR4基因多态性与糖尿病视网膜病变的关联性研究  

Association of polymorphisms in TLR2 and TLR4 gene with diabetic retinopathy in type 2 diabetic Chinese patients

作　　者：孙婷[1] 李毅斌[1] 郝琳娜[1] 肖媛媛[1] 李辽青[1] 

机构地区：[1]首都医科大学附属北京同仁医院北京同仁眼科中心北京市眼科研究所,100005

出　　处：《眼科》2012年第2期107-110,共4页Ophthalmology in China

基　　金：国家自然科学基金项目(81070733/H1205)

摘　　要：目的探讨国人2型糖尿病患者TLR2及TLR4基因多态性与糖尿病视网膜病变（DR）的关联性。设计比较性病例系列。研究对象连续收集病程≥5年的中国汉族2型糖尿病患者205例。其中男性88例,女性117例,平均年龄（59.39±9.17）岁。方法根据患者眼底及荧光素眼底血管造影检查结果将患者分为合并视网膜病变（DR）组（155例）及无视网膜病变（DNR）组（50例）。对所有患者采用基质辅助激光解吸电离飞行时间质谱法（MALDI-TOF-MS）对TLR2和TLR4基因的15个单核苷酸多态性（SNP）的基因型进行检测,比较两组间等位基因分布频率及基因型分布频率的差异。主要指标等位基因分布频率、基因型分布频率及优势比（OR值）。结果 TLR2基因的5个SNP、TLR4基因的5个SNP可检出多态性变化。其中,TLR4rs11536889的GG基因型分布频率在DR组（60.64%）显著高于DNR组（52.00%）,差异有统计学意义（P=0.036,OR=1.927,95%CI=1.057~3.516）。结论国人2型糖尿病患者TLR4基因rs11536889的GG基因型与DR的发生密切相关。Objective To determine the association of polymorphisms in toll-like receptor 2（TLR2） and TLR4 genes with diabetic retinopathy in type 2 diabetic Chinese patients.Design Case control study.Participant 205 type 2 diabetic patients with defined duration of 5 years were enrolled（88 males and 117 females）,whose mean age was 59.39±9.17 years.Methods According to the examination of opththalmoscopy and fundus fluorescein angiography,patients were divided into DR group（with retinopathy） and DNR group（without retinopathy）.DR group had 155 cases,and DNR group 50 cases.15 single nucleotide polymorphisms（SNP） of the TLR2 gene and TLR4 gene were examined using matrix-assisted laser desorption/Ionization time of flight mass spectrometry.Main Outcome Measures The frequency of the alleles and the genotypes,and odds ratio.Results Among the 15 candidate SNP,5 polymorphisms of the TLR2 gene and 5 polymorphisms of the TLR4 gene were found,and the GG haplotype of TLR4 rs11536889 showed a significant difference（P=0.036） between DR（60.64%）and DNR（52.00%）in their genotypes distribution with an odds ratio of 1.927（95% confidence interval,1.057~3.516）.Conclusion In the Chinese population,the GG haplotype of TLR4 rs11536889 are closely related to diabetic retinopathy.

关 键 词：糖尿病视网膜病变 TOLL样受体 单核苷酸多态性 

分 类 号：R774.1[医药卫生—眼科]