摘要
目的研究中国汉族人群中,FcγRIIIA F158V单核苷酸多态性(SNPs)的分布,以及对系统性红斑狼疮(SLE)特别是狼疮肾炎(LN)的遗传易感性和病程变化等的影响。方法采用病例-对照研究,收集在北京协和医院就诊的324例SLE患者和相匹配的非自身免疫性疾病的319名健康志愿者和体检对照,利用多聚酶链式反应(PCR)、限制性片段长度多态性(RELP)以及DNA测序验证等技术检测FcγRIIIA F158V基因型。进一步结合临床资料进行统计分析。结果在中国汉族人群中,FcγRIIIA基因的F等位基因频率约为60.8%。FcγRIIIA基因多态性在SLE组和对照组之间存在显著差异,FF基因型的SLE患者出现LN的风险较高,而VV基因型的SLE患者出现早发LN的风险较低。结论 FcγRIIIA基因多态性与SLE的发病有关,FF纯合子基因型可能存在对LN的易感性。VV纯合子基因型可能对LN晚发存在一定保护作用。
Objective To find the frequencies of FcγRIIIA polymorphisms in Chinese people and the potential role of these polymorphisms （SNPs） in systemic lupus erythermatosus （SLE） and lupus nephritis （LN）. Methods The investigation covers 324 unrelated Chinese SLE patients and 319 controls. FcγRIIIA F158V polymorphism was genotyped by specific primer-polymerase chain reaction（PCR）. Results The frequency of F allele of FcγRIIIA polymorphism is 60. 8% in Chinese people. FcyRIIIA polymorphism revealed a significant difference of both genotype and allele distribution in SLE patients and controls. LN patients have a significant increase in carrier frequency of the FF genotype, while the VV genotype reveals a significant decreased risk of early onset of LN. Conclusions FcγRIIIA polymorphisms is potentially related with SLE in Chinese people. The homozygous FF genotype of FcγRIIIA might be the risk factor for LN, while the homozygous VV genotype might be the protective factor for late onset lupus nephritis.
作者
张昀
刘淑芬
曾学军
ZHANG Yun LIU Shu-fen ZENG Xue-jun(Dept. of General Internal Medicine Dept. of Physiatry, Peking Union Medical College Hospital （PUMCH） CAMS ＆ PUMC, Beijing 100730, China)
出处
《基础医学与临床》
CSCD
2017年第5期709-713,共5页
Basic and Clinical Medicine
关键词
系统性红斑狼疮
狼疮肾炎
单核苷酸多态性
systemic lupus erythematosus
lupus nephritis
single nucleotide polymorphism
