中国汉族人群免疫球蛋白受体ⅡB和ⅢA基因与系统性红斑狼疮的遗传易感性  

Genetic susceptibility and haplotype analysis between Fcγ receptorⅡB and ⅢA gene with systemic lupus erythematosus in Chinese population

作　　者：潘发明[1] 张克春[1] 李向培[2] 徐建华[3] 陈红[1] 廖芳芳[1] 夏果[1] 叶冬青[1] 

机构地区：[1]安徽医科大学流行病与卫生统计学系,合肥230032 [2]安徽医科大学附属省立医院风湿科,合肥230001 [3]安徽医科大学第一附属医院风湿科,合肥230022

出　　处：《安徽医科大学学报》2008年第2期197-201,共5页Acta Universitatis Medicinalis Anhui

基　　金：国家自然科学基金(编号:30571608,30771489);安徽医科大学2006年博士启动基金(编号:01XJ2006001)

摘　　要：目的探讨位于人类1号染色体长臂2区3带(1q23-24)免疫球蛋白受体ⅡB和ⅢA基因功能单核苷酸多态性与系统性红斑狼疮(SLE)的遗传易感性。方法采用聚合酶链反应和限制性酶切片段长度多态性方法检测人类1q23区域FcγRⅡB和ⅢA基因多态性,采用家系内关联性分析(FBAT),对95个中国汉族SL核心家系的FcγRⅡB和ⅢA基因中13个功能单核苷酸多态性位点进行等位基因和基因型分析,SLE诊断采用1997年美国风湿学所修定的标准。结果单位点SNP遗传关联性分析,在FcγRⅡB基因中只有rs10917661和rs1050501,在FcγRⅢA基因中只有rs403016和rs428888与SLE存在遗传易感性;而且单倍型分析结果显示:分别在FcγRⅡB中50Ter-225Thr及FcγRⅢA中72Arg-118Asn两个单倍型与SLE遗传易感性有关,但在两个基因中没有发现有意义的单倍型。结论在中国汉族SLE家系中存在FcγRⅡB和FcγRⅢA基因与SLE有遗传关联的单倍型;同时两个基因在SLE的发病中可能独立地发挥遗传易感作用。Objective To understand the role of FcγR Ⅱ B and FcγR m A gene in susceptibility to systemic lupus erythematosus （SLE）, and to examine possible susceptible haplotypes between two genes. Methods A family- based association study was used to explore the relationship between gene polymorphism and SLE. We studied 13 single-nucleotide polymorphisms （SNPs） in the FcγR Ⅱ B and FcγRⅢ A gene with respect to genetic susceptibility to SLE. All SNPs were genotyped by RFLP method. Results Among 13 SNPs,univariate （single-marker） family- based association tests （FBATs） demonstrated that variant alleles at only four SNPs （rs10917661 and rs1050501, in the FeγRIIB gene, rs403016 and rs428888, in the Fe （ R Ⅲ A gene, respectively） were significantly associated with genetic susceptibility to SLE. Furthermore,the haplotype-speeifie FBATs showed 50Ter-225Thr in the FeγR Ⅱ B gene and 72Arg-118Asn the FcγR Ⅲ A gene） haplotype were more frequently transmitted in SLE than other hap-lotypes. But haplotypes were not found between FcγR Ⅱ B with FcγR Ⅲ A gene. Conclusion The results suggest that there are meaningful haplotype in FeγR Ⅲ A and FeγR Ⅱ B gene respectively. FeγR Ⅲ A and FcγR Ⅱ B gene in the pathogenesis of SLE may play an independent role in Chinese population.

关 键 词：受体 聚合免疫球蛋白 多态性 单核苷酸 红斑狼疮 系统性 疾病遗传易感性 

分 类 号：R593.242[医药卫生—内科学] R394.5[医药卫生—临床医学]