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.
出处
《安徽医科大学学报》
CAS
北大核心
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)
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
receptors, polymeric
polymorphism, single nucleotide
lupus erythematosus, systemic
genetic predisposition to disease
