IgA肾病和TGF-β1基因多态性的相关性研究  

Association of TGF-β1 Gene Polymorphism with IgA Nephropathy

作　　者：秦伟[1] 张颖娟[1] 谭淳予[2] 刘先蓉[1] 马行一[1] 樊均明[1] 

机构地区：[1]四川大学华西医院肾内科,四川成都610041 [2]四川大学华西医院风湿免疫科,四川成都610041

出　　处：《华西医学》2008年第1期61-63,共3页West China Medical Journal

摘　　要：目的:对TGF-β1的G-800A,C-509T,T869C和G915C多态性位点与IgA肾病及其临床表现之间的相关性进行了分析。方法:纳入119例经肾活检证实为IgA肾病的患者和116例健康正常成人作为对照组。采用多聚酶链式反应-限制片段长度多态性分析和多聚酶链式反应-扩增受阻突变体系方法测定TGF-β1的G-800A,C-509T,T869C和G915C多态性位点的基因型,分析其与IgA肾病发病以及临床表现的相关性。结果:研究对象中G-800A和G+915C这两个位点没有多态性。IgAN患者C-509T位点的等位基因型分布与正常对照具有显著性差异(P<0.05),且IgAN患者TT纯合子的频率显著高于对照组(33%vs20%,P=0.02)。C869T位点等位基因的分布无显著性差异。C-509T和C869T位点等位基因分布和患者临床表现无明显的相关性。结论:TGF-β1基因C-509T位点的T等位基因携带可能与IgA肾病的发病易感性具有相关性。Objective：This study aimed to evaluate the association of TGF-β1 gene polymorphisms with the susceptibility and clinical features of IgA nephropathy.Methods：The G-800A,T-509C,T869C and G915C polymorphisms of TGF-β1 were genotyped in 284 biopsy proved CKD patients and 116 matched normal controls using polymerase chain reaction-amplification refractory mutation system（PCR-ARMS）and PCR-restriction fragment length polymorphism（PCR-RFLP）methods.Then association analyses between these polymorphism sites with pathological and clinical characters of CKD were performed.Results：No polymorphism was found at positions-800 and ＋915,all subjects were-800GG and 915GG homozygous.The distribution of C-509T SNP site alleles is apparently different with normal control（P〈0.05）,and the TT homozygote is significantly higher（33% vs 20%,P=0.02）.However,no distribution difference is observed in C869T SNP site.No association is noticed between SNP genotype and clinical features.Conclusion：C-509T SNP site genotype of TGF-β1 gene is associated with the susceptibility of IgA nephropathy.

关 键 词：IGA肾病 TGF-Β1 基因多态性 

分 类 号：R692.3[医药卫生—泌尿科学]