【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。更多还原

【Abstract】 Objective To understand the role of FcγRⅡB and FcγRⅢA 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 FcγRⅡB and FcγRⅢA 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 FcγRIIB gene,rs403016 and rs428888,in the Fc(RⅢA gene,respectively) were significantly associated with genetic susceptibility to SLE.Furthermore,the haplotype-specific FBATs showed 50Ter-225Thr in the FcγRⅡB gene and 72Arg-118Asn the FcγRⅢA gene) haplotype were more frequently transmitted in SLE than other haplotypes.But haplotypes were not found between FcγRⅡB with FcγRⅢA gene.Conclusion The results suggest that there are meaningful haplotype in FcγRⅢA and FcγRⅡB gene respectively.FcγRⅢA and FcγRⅡB gene in the pathogenesis of SLE may play an independent role in Chinese population.更多还原