TNFα基因-308A/G多态性与原发性肾病综合征的相关性研究  

Relationship of TNFα-308A/G polymorphism with primary nephrotic syndrome

作　　者：项新[1] 冯振伟[1] 陆玲娜[1] 何坤[1] 施燕春 

机构地区：[1]广西医科大学附属民族医院肾内科,南宁530001

出　　处：《临床肾脏病杂志》2017年第10期585-589,共5页Journal Of Clinical Nephrology

基　　金：广西医科大学青年科学基金资助项目(No.GXMUYSF201338)

摘　　要：目的探讨TNF-α基因-308A/G多态性与原发性肾病综合征(primary nephrotic syndrome,PNS)临床和病理的相关性。方法利用聚合酶链反应-限制性片段长度多态性分析法来鉴定基因型,以检测PNS患者和对照组TNF-α基因-308A/G多态性分布规律。收集一般临床指标和PNS患者的病理资料,检测患者治疗前血清TNF-α,进行病例对照研究与临床病理资料分析。结果 PNS患者和对照组均检出A、G2种TNF-α-308A/G等位基因,3种组合基因型AA型、AG型、GG型。2种等位基因和3种基因型在2组分布频率无显著性差异(P>0.05)。PNS组患者的年龄、性别、血脂、白蛋白、尿素氮、血肌酐和C反应蛋白水平中任何基因型的分布频率无显著性差异(P>0.05),携带GG基因型的PNS患者的24h尿蛋白水平较AG和AA基因型明显减少(P均<0.05)。携带AA基因型患者血清TNF-α水平较AG和GG基因型明显升高(P均<0.05)。病理结果显示:AA基因型在微小病变型肾病患者中有较高的出现频率,与GG+AG基因型比较有显著性差异(P<0.05)。GG基因型和G等位基因的PNS患者治疗有效率明显高于其他基因型(P均<0.05)。结论 TNF-α-308A/G基因多态性能影响血清TNF-α水平,可能与微小病变型肾病的发病、较重的蛋白尿及激素疗效相关,但与PNS的发病易感性不相关。Objective To investigate the clinicopathological relationship of TNFα-308 A/G polymorphism with primary nephrotic syndrome（ PNS）,and the causes of PNS from gene level. Methods The genotypes were determined by polymerase chain reaction-restriction fragment-length polymorphism to find the regularity of distribution of TNFα-308 A/G polymorphism in normal control subjects and the patients with PNS. At the same time,general clinic indexes and patients＇ pathologic information were collected to make control study and clinicopathologic analysis. Results TNFα-308 A/G including 3 genotypes（ AA,AG and GG） and 2 allele genes（ A or G） were found in both two groups. There were no significant differences in genotypes distribution,and allele frequency between PNS and normal control subjects（ P〉0. 05）. No correlation was found in the-308 A/G polymorphism of TNFα with sex,age,Alb,CHOL,TG,BUN,SCr and CRP levels. The albuminuria level of GG genotype was lower than that of AG or AA genotypes（ P〈0. 05）,and the TNFα level of AA genotype was higher than that of AG or GG genotypes（ P〈0. 05）. The pathologic data showed that the AA genotype frequency was higher than GG ＋ AG genotype frequency in patients with minimal change nephrotic syndrome（ P〈0. 05）. The effective rate of PNS with GG genotype and G allele both was higher than that of the other genotypes（ P〈0. 05）. Conclusions TNFα-308 A/G polymorphism was associated with the TNFα level,and may be associated with severe albuminuria and minimal change nephrotic syndrome and the curative effect of hormone. However,this polymorphism was not associated with susceptibility to PNS.

关 键 词：肿瘤坏死因子Α 原发性肾病综合征 基因多态性 

分 类 号：R692[医药卫生—泌尿科学]