HSP90B1基因多态性与系统性红斑狼疮易感性的关联研究  

Association of HSP90B1 gene polymorphisms with systemic lupus erythemat-osus patients

作　　者：孙秀秀[1] 徐建华 钱龙[1,3] 王春淮 潘海峰[1] 叶冬青 邹延峰(指导)[1] 

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]安徽医科大学第二附属医院风湿免疫科,合肥230601

出　　处：《中国免疫学杂志》2017年第11期1601-1605,共5页Chinese Journal of Immunology

基　　金：国家自然科学基金项目(No.81673254,No.81373073)

摘　　要：目的:探讨HSP90B1基因多态性与中国汉族人群系统性红斑狼疮(SLE)易感性的关系。方法:从医院收集360例对照和360例SLE患者,按照年龄和性别进行匹配。利用Multiplex SNa Pshot分型技术对SNP位点分型。采用基于错误发现率(FDR)标准的本杰明-汉伯格(BH)法进行多重检验校正。结果:显性模型分析发现rs1165681的基因型频率分布在对照组和SLE组之间存在统计学差异(Crude OR=0.621,95%CI=0.450-0.856,P=0.004;Adjusted OR=0.619,95%CI=0.449-0.855,P=0.004);隐性模型分析发现rs10778306(Crude OR=0.568,95%CI=0.328-0.984,P=0.044;Adjusted OR=0.570,95%CI=0.329-0.988,P=0.045)、rs2722188(Crude OR=0.227,95%CI=0.076-0.681,P=0.008;Adjusted OR=0.227,95%CI=0.076-0.682,P=0.008)的基因型分布在两组之间存在统计学差异。BH法校正后,rs1165681基因型分布在两组之间有统计学差异(PBH=0.044)。单倍型分析后CCATTAGGCAT(OR=0.323,95%CI=0.154-0.680,P=0.002)、CCCTTAGGCAC(OR=1.324,95%CI=1.014-1.729,P=0.039)、TCCCTAGTCGC(OR=0.465,95%CI=0.221-0.979,P=0.039)和TTCTCGGGCAT(OR=0.443,95%CI=0.224-0.875,P=0.016)与SLE的发病风险有关;BH法校正后,CCATTAGGCAT在两组之间的分布有统计学差异(PBH=0.028),其他单倍型均无统计学差异(P>0.05)。结论:HP90B1基因多态性可能与中国汉族人群的SLE发病有关。Objective：To explore the association of HSP90B1 gene polymorphisms with susceptibility of systemic lupus erythematosus（SLE） in Chinese Han population.Methods：We recruited 360 SLE patients from hospital as case group and selected 360 ageand sex-matched individuals without autoimmune diseases as control group.Multiplex SNa Pshot was used for genotyp-ing.BenjaminHamburg（BH） method based on false discovery rate（FDR） standard was used for multiple testing correction.Results：The rs1165681 polymorphism（Crude OR=0.621,95% CI=0.450-0.856,P=0.004;Adjusted OR=0.619,95% CI=0.449-0.855,P=0.004） was significantly associated with SLE risk reduction in dominant model,and the rs10778306 polymorphism（crude OR=0.568,95% CI=0.328-0.984,P=0.044;Adjusted OR=0.570,95% CI=0.329-0.988,P=0.045） and the rs2722188 polymorphism（Crude OR=0.227,95% CI=0.076-0.681,P=0.008;Adjusted OR=0.227,95% CI=0.076-0.682,P=0.008） were significantly associated with SLE risk reduction in recessive model.After adjustment using BH method,genotype distribution of rs1165681 was statistical difference in two groups（PBH=0.044）.Significant associations were found between four haplotypes of HSP90B1 gene CCATTAGGCAT（OR=0.323,95% CI=0.154-0.680,P=0.002）,CCCTTAGGCAC（OR=1.324,95% CI=1.014-1.729,P=0.039）,TCCCTAGTCGC（OR=0.465,95% CI=0.221-0.979,P=0.039） and TTCTCGGGCAT（OR=0.443,95% CI=0.224-0.875,P=0.016） and SLE risk.After adjustment using BH method,the frequency of CCATTAGGCAT distribution difference was statistically significant in two groups（PBH=0.028）,but there were no statistical difference in other haplotypes frequency distributions（P0.05）.Conclusion：HSP90B1 gene polymorphisms may be associated with the susceptibility of SLE in Chinese Han population.

关 键 词：系统性红斑狼疮 HSP90B1 单核苷酸多态性 单倍型 

分 类 号：R446.11[医药卫生—诊断学]