HSP90B1基因多态性与系统性红斑狼疮易感性的关联研究

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 SNaPshot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 (P_BH = 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(P_BH = 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。

Association of HSP90B1 gene polymorphisms with systemic lupus erythemat osus patients

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 age and sex matched individuals without autoimmune diseases as control group. Multiplex SNaPshot was used for genotyping. Benjamin-Hamburg(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 mode. After adjustment using BH method, genotype distribution of rs1165681 was statistical difference in two groups(P_BH= 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(P_BH = 0.028),but there were no statistical difference in other haplotypes frequency distributions (P>0.05).Conclusion: HSP90B1gene polymorphisms may be associated with the susceptibility of SLE in Chinese Han population.