与糖尿病患者轻度视力损伤相关的CFH基因多态性研究  

Association between CFH gene polymorphisms and unexplained mild vision loss in type 2 diabetes patients

作　　者：李涛[1] 徐艺[2] 陈剑华 徐娴[1] 许迅[1] 何鲜桂[2] 陆丽娜[2] 朱剑锋[2] 师咏勇[4] 邹海东[1,2] Li Tao;Xu Yi;Chen Jianhua;Xu Xian;Xu Xun;He Xiangui;Lu Lina;Zhu Jianfeng;Shi Yongyong;Zou Haidong(Department of Ophthalmology,Shanghai General Hospital,Shanghai Jiaotong University School of Medicine,Shanghai 200080,China;Shanghai Eye Diseases Prevention&Treatment Center/Shanghai Eye Hospital,Shanghai 200040,China;Shanghai Key Laboratory of Psychotic Disorders,Shanghai Mental Health Center,Shanghai Jiaotong University School of Medicine,Shanghai 201108,China;Bio-X Institutes,Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders(Ministry of Education),the Collaborative Innovation Center for Brain Science,Shanghai Jiaotong University,Shanghai 200030,China)

机构地区：[1]上海交通大学附属第一人民医院眼科,200080 [2]上海市眼病防治中心防治科,200040 [3]上海交通大学医学院附属精神卫生中心,201108 [4]上海交通大学Bio-X研究所,200030

出　　处：《中华实验眼科杂志》2020年第8期698-703,共6页Chinese Journal Of Experimental Ophthalmology

基　　金：国家自然科学基金项目(81670898、81600778);上海市眼科疾病精准诊疗工程技术研究中心(19DZ2250100);上海申康医院发展中心项目(SHDC2018110);上海交通大学医学院高峰高原研究型医师项目(20172022)。

摘　　要：目的探讨补体因子H(CFH)基因单核苷酸多态性(SNPs)与糖尿病人群无法解释的轻度视力损伤(UMVL)的相关性。方法采用病例对照研究方法,2016年4—7月在上海市新泾社区进行2型糖尿病患者流行病学调查,收集受检者的基本信息、眼科检查和血生物化学检验结果,采集每例患者的清晨空腹外周血2 ml用于提取DNA。采用Fluidigm法对CFH基因上的5个SNPs rs800292、rs1061170、rs529825、rs1410996和rs203674进行基因型检测,采用SPSS 13.0统计学软件和Haploview 4.0软件计算Hardy-Weinberg平衡、碱基型和基因型频率,进行关联分析和单倍体分型并评估各SNPs与UMVL之间的关系。结果共纳入135例无法解释的视力轻度损伤的糖尿病患者作为试验组,133例视力正常的糖尿病患者作为对照。rs2003674位点不符合Hardy-Weinberg平衡,未纳入分析。在纳入分析的CFH基因的其他4个位点rs529825、rs800292、rs1410996、rs1061170中,2组之间SNPs及基因型均无明显差异,其等位基因频率P值分别为0.79、0.25、0.69和0.77;其基因型频率P值分别为0.61、0.69、0.87和0.43。结论CFH基因多态性导致的个体补体系统差异与糖尿病患者UMVL无相关性。Objective To investigate whether the presence of complement factor H(CFH)gene polymorphisms is associated with unexplained mild visual loss(UMVL)in type 2 diabetes mellitus patients.Methods A case control study was adopted.The participants included two groups from a previous population-based epidemiology study on type 2 diabetes mellitus patients in the Beixinjing community,Shanghai:UMVL was defined by a best corrected visual acuity(BCVA)<20/25 and≥20/63 in both eyes,with no eye diseases causing visual impairment,such as corneal diseases,cataract,age-related macular degeneration,glaucoma,optic nerve atrophy,diabetic retinopathy,etc.Genomic DNA was isolated from the peripheral venous blood of all the participants and then loaded onto Fluidigm Digital Arrays.Four CFH gene single nucleotide polymorphisms(SNPs)(rs800292,rs1061170,rs529825,rs1410996,rs203674)were assessed with the SPSS 13.0 and HAPLoVIEW 4.0 software to test the statistical association of CFH polymorphisms with UMVL.The study protocol was approved by the Ethics Committee of Shanghai General Hospital,Shanghai Jiaotong University(No.2013KY023).All the procedures were conducted according to the tenets of the Declaration of Helsinki.Written informed consent was obtained from each subject prior to entering the study cohort.Results Total of 135 residents with UMVL and 133 with normal vision(BCVA≥20/25 in both eyes)were enrolled.The UMVL group matched the control group in terms of gender,age,onset age,and duration of diabetes mellitus,hemoglobin A1c levels,and body mass index(all at P>0.05).The four SNPs(rs800292,rs1061170,rs529825,rs1410996)except rs203674 tested in the UMVL and control groups were qualified by the Hardy-Weinberg equilibrium(P>0.05).There were no differences in SNPs and genotypes between the two groups in the four loci of the CFH gene.The P value of allele frequencies of rs529825,rs800292,rs1410996 and rs1061170 were 0.79,0.25,0.69 and 0.77,respectively,and the P value of genotype frequencies were 0.61,0.69,0.87 and 0.43,respectively.Co

关 键 词：糖尿病 补体因子H基因 单核苷酸多态性 无法解释的轻度视力损伤 等位基因 基因频率 优势比 

分 类 号：R587.2[医药卫生—内分泌] R771.3[医药卫生—内科学]