免疫球蛋白受体3A基因-72R／S单核苷酸多态性与系统性红斑狼疮的遗传易感性  

Study on genetic susceptibility of the single-mldeofide polymorphism ofFCGR3A gene and systemic lupus erythematosus

作　　者：潘发明[1] 张克春[1] 李向培[3] 徐健华 陈红[1] 王勇 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]第一附属医院风湿科 [3]安徽省立医院风湿科

出　　处：《中华医学遗传学杂志》2007年第5期544-547,共4页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（30371247,30571608）;安徽医科大学博士启动基金（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3A（Fe gamma recep．tor 3A，FCGR3A）基因-72R／S单核苷酸多态性与系统性红斑狼疮（systemic lupus erythematosus，SLE）的遗传易感性关联情况。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lq23 FCGR3A基因多态性，采用家系内关联性分析（family-based association test，FBAT），对119个中国汉族SLE患者家系（核心家系95个）119例SLE患者和316个家系成员中FCGR3A一72R／S多态性位点进行等位基因和基因型别分析，SLE的诊断采用1997年美国风湿学修定的标准。结果在119例SLE患者中，R、S等位基因频率分别是39．4％和60．6％；基因型RR、RS和SS的频率分别是9．1％、60．6％、30．3％。FBAT软件分析结果显示-72R／S（rs403016）与SLE显著相关；在附加模型（Z=2．544，P=0．01097）、隐性模型（Z=2．198，P=0．02795）均显示-72R等位基因与SLE遗传易感性有关。传递不平衡检验显示其中R等位基因优势传递给患病子女（f=9．30，P=0．0032）。结论在中国汉族SLE家系中发现FCGR3A-72R／S多态性与SLE存在关联或者与疾病基因座存在连锁；说明携带-72R等位基因可能与提高SLE遗传易感性有关。Objective To investigate the role ofFCGR3A gene in susceptibihty to systemic lupus erythematosus （SLE） using family based studies. Methods A total of 119 patients from 95 nuclear famihes, with SLE according to the American College of Rheumatology 1997 criteria were recruited. In addition, 316 family members of these patients were also genotyped. A family-based association study was used to explore the association between gene polymorphism and SLE. The authors studied the single-nucleotide polymorphisms （SNP） encoding non-synonymous substitution in the cFCGR3A gene with respect to genetic susceptibility to SLE. The FCGR3A gene was genotyped with RFLP. Results Among 119 SLE patients, the frequency of FCGR3A-72R/S, R and S allele were 39.4% and 60.6% ;the frequency of FCGR3A-R/S RR, RS and SS genotypes were 9.1%, 60.6% and 30.3%, respectively. Univariate （single-marker） family-based association tests （FBATs） demonstrated that variant allele at the SNP（rs403016） in exon 3 of FCGR3A gene was significantly associated with genetic susceptibility to SLE in Additive Model （ Z = 2.544, P = 0.01097） and Recessive Model （ Z = 2.198, P = 0.02795）. TDT analysis showed an excess of the allele of R from heterozygous parents to affected offspring （X^2 = 9.30, P = 0.0032）. Condw The findings suggest that the FCGR3A gene may be the susceptible gene of SLE in Chinese population, and that the individual carrying FCGR3A-72R allele was significantly associated with increase of susceptibility to SLE.

关 键 词：免疫球蛋白受体3A基因 系统性红斑狼疮 单核苷酸多态性 

分 类 号：R686[医药卫生—骨科学]