转化生长因子β1基因-509C/T多态性与原发性肾病综合征相关关系的研究  

Association of TGFβ1-509C/T Polymorphism with Primary Nephrotic Syndrome

作　　者：项新 黄典胜 施燕春 梁延秀 黄振华 何坤 陆玲娜 

机构地区：[1]广西民族医院肾内科,广西南宁市530000

出　　处：《中国全科医学》2013年第8期884-887,共4页Chinese General Practice

摘　　要：目的探讨转化生长因子β1(TGFβ1)基因-509C/T多态性与原发性肾病综合征(PNS)临床和病理的相关关系,试从基因水平探讨PNS的发病机制,为阐明TGFβ1在肾病综合征发生、发展中的分子遗传学意义提供资料。方法利用聚合酶链反应-限制性片段长度多态性分析法(PCR-RFLP)鉴定基因型,检测PNS患者(PNS组,80例)和健康体检正常者(对照组,60例)TGFβ1基因-509C/T多态性分布规律。同时收集一般临床指标和患者的病理资料,进行病例-对照研究、临床及病理资料分析。结果 (1)在PNS组及对照组均检测出C、T两种TGFβ1-509C/T等位基因,共有3种组合基因型:TT型、CT型、CC型。(2)PNS组与对照组TGFβ1-509C/T基因型及等位基因的分布频率比较,差异均无统计学意义(P>0.05)。(3)临床资料分析显示:PNS患者中,TT基因型患者血肌酐、24 h尿蛋白水平高于CT基因型和CC基因型患者,差异均有统计学意义(P<0.05),而3种基因型患者的年龄、性别构成及血压、血脂、血清清蛋白水平间差异均无统计学意义(P>0.05)。(4)病理分析显示:不同病理类型的PNS患者CC、CT、TT基因型分布频率间差异有统计学意义(P<0.05),TT基因型在系膜增生性肾小球肾炎患者中有较高的出现频率。(5)追踪随访显示:治疗有效组患者与无效组患者比较,基因型及等位基因的分布频率间差异均有统计学意义(P<0.05)。结论 TGFβ1-509C/T基因多态性可能与较重的蛋白尿、肾损害、肾小球硬化、激素疗效相关,但与PNS的发病易患性不相关。Objective To investigate the association of TGFβ1-509C/T polymorphism with primary nephrotic syndrome(PNS).Methods The genotypes of TGFβ1 gene polymorphism(-509C/T) was determined by polymerase chain reaction-restriction fragment-length polymorphism analysis in 80 PNS patients and 60 normal controls.The clinical and pathological data were also obtained and compared between these two groups.Results TGFβ1 gene(-509C/T)included three genotype(CC,CT,and TT) and two allele gene(C or T) in both two groups.The genotype distribution and allele frequency were not significantly different between these two groups(P>0.05).In the PNS group,the serum creatinine and 24 h urine protein were significantly higher in patients with TT genotype than those with CT genotype or CC genotype(P<0.05),whereas the age,sex,blood pressure,and albumine showed no significant differnce(P>0.05).The frequency of TT genotype was significantly higher than that of CC+CT in patients with mesangial proliferative glomerulonephritis(P<0.05).Both TT genotype and T allele were associated with significantly lower effectiveness rate(P<0.05).Conclusion TGFβ1-509C/T Polymorphism may be associated with severe renal tissue lesion,albuminuria,and mesangial proliferative glomerulonephritis.Patients with TT genotype and T allele tend to have poor prognosis.However,this polymorphism is not associated with the susceptibility to PNS.

关 键 词：转化生长因子Β1 肾病综合征 多态性 单核苷酸 相关性 

分 类 号：R692[医药卫生—泌尿科学] R349.6[医药卫生—外科学]