转化生长因子-β1基因-509 C/T多态性与原发ANCA相关性小血管炎的关联研究  

Association of TGFβ1-509 C/T gene polymorphism and ANCA associated vasculitis in Chinese Han population

作　　者：薛超[1] 罗佐杰[2] 廖蕴华[1] 项新[1] 许佳[1] 王明军[1] 冯炜[1] 

机构地区：[1]广西医科大学一附院肾内科,南宁530021 [2]广西医科大学一附院内分泌科,南宁530021

出　　处：《中国综合临床》2010年第8期798-801,共4页Clinical Medicine of China

基　　金：基金项目：广西科学基金项目（桂科青0728060）

摘　　要：目的 探讨转化生长因子-β1（TGF-β1）基因-509 C/T多态性与汉族人群原发ANcA相关性小血管炎（AAV）的相关关系.方法 收集88例原发AAV患者血样DNA和临床资料,采用聚合酶链式反应-限制性片段长度多态性（PCR-RFLP）的方法,鉴定TGF-β1基因上调控区域-509 C/T基因多态性,并与107名健康对照者进行病例-对照研究,并行临床病理资料分析.结果 ①88例患者中,TGF-β1基因-509C/T存在CC、CT和TT三种基因型,依次占29.5%、45.5%和25.0%,对照组三种基因型比例为34.6%、44.9%、20.5%,2组相比,TGF-β1基因-509 C/T基因型及等位基因的分布频率差异均无统计学意义（P均〉0.05）;②临床分析显示：78例患者中,尿蛋白在三种基因型的患者中[CC型为（3246±1183）g/24 h、CT型为（1585±1180）g/24 h、TT型为（1337±1075）g/24 h]差异有统计学意义（P〈0.05）,CC基因型的患者其尿蛋白均显著增加;③28例患者得以肾活检,中重度系膜增生的发生率在CC型患者中较多（5/6）,与其他2组（分别为4/16和4/6）比较,差异有统计学意义（P〈0.05）.结论 汉族人群中,TGF-β1基因-509 C/T可能与AAV遗传易感性不相关,但可能与蛋白尿和较重的系膜增生相关.Objective To investigate the association between TGFβ1-509 C/T gene polymorphism with primary ANCA associated vasculitis （AAV） in Chinese Han population . Methods The blood DNA and clinical data of 88 patients were collected, TGFβ1-509 C/T genotypes were determined by PCR-RFLP, 107 healthy individuals were tested as controL Clinical and pathological data of the patients with different genotype were compared. Results No significant difference was found in neither genotype distributions nor allele frequencies between the patients and the control （P 〉 0. 05）. Significant difference was found in uria protien level of the three groups of patients with different genotypes（P 〈0.05） ,but not in blood pressure, serum urea nitrogen or creatinine, vasculitic damage index, birminghan vasculitis activity score （P 〉 0. 05 ）. Significant difference was found in med-heavier glomerular mesangial proliferation of the three groups （ P 〈 0.05 ） , but not in lighter glomerular mesangial proliferation, glomerular sclerosis, crescent formation and tubule-interstitial fibrosis and atrophy. Conclusions In Chinese Han population, TGFβ1-509 C/T polymorphism might have no relationship to susceptibility of primary AAV, but might relate to uria protein and med-heavier degree of mesenterium proliferation.

关 键 词：ANCA 转化生长因子-Β1 基因 多态性 相关 

分 类 号：R593[医药卫生—内科学]