肿瘤坏死因子受体相关蛋白1基因拷贝数变异与系统性红斑狼疮易感性及临床特征的关联研究  

Association of tumor necrosis factor receptor-associated protein 1 gene copy number variation with susceptibility and clinical characteristics of systemic lupus erythematosus

作　　者：李苏苏 徐建华[2] 刘爽[2] 蔡静[2] 刘盛秀[3] 黄海良[4] 钱龙[5] 王春淮[5] 潘海峰[1] 潘发明[1] 苏虹[1] 邹延峰[1] Li Susu;Xu Jianhua;Liu Shuang;Cai Jing;Liu Shengxiu;Huang Hailiang;Qian Long;Wang Chunhuai;Pan Haifeng;Pan Faming;Su Hong;Zou Yanfeng(Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, the Key Laboratory of Major Autoimmune Diseases, Hefei 230032, China;Department of Rheumatology and Immunology, the First Affiliated Hospital of Anhui Medical University, Hefei 230022, China;Institute of Dermatology and Department of Dermatology, the First Affiliated Hospital of Anhui Medical University, Hefei 230022, Anhui, China;Department of Biochemistry and Molecular Biology, School of Basic Medicine, Anhui Medical University, Hefei, 230032, Anhui, China;Department of Rheumatology and Immunology, the Second Affiliated Hospital of Anhui Medical University, Hefei 230601, China)

机构地区：[1]安徽医科大学公共卫生学院流行病与卫生统计学系安徽省重大自身免疫性疾病重点实验室,合肥230032 [2]安徽医科大学第一附属医院风湿免疫科,合肥230022 [3]安徽医科大学第一附属医院皮肤性病科,合肥230022 [4]安徽医科大学生物化学教研室,合肥230032 [5]安徽医科大学第二附属医院风湿免疫科,合肥230601

出　　处：《中华风湿病学杂志》2019年第2期89-94,共6页Chinese Journal of Rheumatology

基　　金：国家自然科学基金(面上项目)(81872683,81673254,81373073).

摘　　要：目的探索肿瘤坏死因子受体相关蛋白1(TRAP1)基因拷贝数变异与SLE易感性及临床特征的关系。方法研究共纳入304例SLE患者和391例健康对照探索TRAP1基因拷贝数变异与SLE易感性的关系。将SLE患者进一步分为拷贝数=2组和拷贝数>2组,探讨TRAP1基因拷贝数变异与SLE患者疾病活动程度及临床特征的关系。研究采用AccuCopyTM多重基因拷贝数检测技术检测TRAP1基因拷贝数,使用SPSS10.01进行数据整理和分析。根据数据类型和分布特征在t检验,秩和检验和χ^2检验中选择适宜的分析方法进行分析,单因素和多因素Logistic回归分析用于探讨TARP1基因拷贝数变异与SLE易感性及临床特征的关系。结果TRAP1基因拷贝数变异与SLE易感性的关联分析具有统计学意义[粗:OR=5.257,95%可信区间(95%CI)(1.108,24.937),P=0.037;校正:OR=5.578,95%CI(1.172,26.556),P=0.031]。TRAP1基因拷贝数变异与SLEDAI评分之间无相关性(Z=-0.117,P=0.907)。TRAP1基因拷贝数变异与SLE患者的皮肤损害之间具有关联趋势[OR=0.130,95%CI(0.016,1.069),P=0.058],调整混杂因素后关联趋势消失[OR=0.288,95%CI(0.029,2.831),P=0.286,PBH=0.808],与关节炎、脱发、口腔溃疡、发热、血液系统损害、LN及光敏感之间未发现相关性[χ^2=0.751,OR=1.234,95%CI(0.767,1.988),P=0.386]。TRAP1基因拷贝数变异与年龄和BMI无相乘交互作用[年龄:χ^2=0.751,OR=1.234,95%CI(0.767,1.988),P=0.386;体质量指数:χ^2=0.282,OR=1.172,95%CI(0.652,2.109),P=0.596]。结论TRAP1基因拷贝数变异与SLE易感性可能存在关联,拷贝数增加可能是SLE发病的危险因素。Objective To explore whether tumor necrosis factor receptor-associated protein 1 (TRAP1) gene copy number variation was associated with susceptibility and clinical characteristics of systemic lupus erythematosus (SLE). MethodsThe study enrolled 304 SLE patients and 391 healthy controls. They were used to investigate the association between TRAP1 gene copy number variation and SLE susceptibility. Then, 304 SLE patients were divided into copy number=2 group and copy number>2 group to study the association between TRAP1 gene copy number variation and disease activity or clinical characteristics of SLE. AccuCopyTM Kit was used to detect the TRAP1 gene copy number. Data analyses were performed by SPSS 10.01 software. The suitable method was selected among t test, rank sum test and χ^2 test for analysis based on the data type and distribution, univariate and multivariate logistic regression analysis were performed to investigate the associ-ation between TRAP1 gene copy number variation and susceptibility and clinical characteristics of SLE. ResultsThe copy number variation of TRAP1 gene showed an association with the susceptibility to SLE crude OR=5.257, 95%CI (1.108, 24.937), P=0.037;the adjusted OR=5.578, 95%CI (1.172, 26.556), P=0.031]. There was no association between TRAP1 gene copy number variation and SLE disease activity index (SLEDAI) score (Z=-0.117, P=0.907). The copy number variation of TRAP1 gene had a marginal association with skin lesions in SLE [OR=0.130, 95%CI(0.016, 1.069), P=0.058], but it disappeared after adjusting for potential confounders [OR=0.288, 95%CI(0.029, 2.831), P=0.286, PBH=0.808]. There was no correlation between TRAP1 gene copy number variation and arthritis, alopecia, oral ulcers, fever, hematologic disorder, lupus nephritis as well as photosensitivity in SLE [χ^2=0.751, OR=1.234, 95%CI(0.767, 1.988), P=0.386]. No multiplicative interaction was found between TRAP1 gene copy number variation and age or body mass index (BMI) [age: χ^2=0.751, OR=1.234, 95%CI(0.767, 1.988), P=0.386;BMI

关 键 词：受体 肿瘤坏死因子 I型 红斑狼疮 系统性 变异 疾病遗传易感性 交互作用 

分 类 号：R593.241[医药卫生—内科学]