中国汉族人群TGFβ_1基因-509C/T多态性及其IgA肾病的病例对照研究  

Relationship of TGFβ_1 -509C/T Polymorphism with IgA Nephropathy in Han Nationality of Chinese Population

作　　者：薛超[1] 李幼姬[1] 李彩霞[2] 杜勇[1] 黄玮俊[3] 夏运风[1] 黎嘉能[4] Patrick H Maxwell 王一鸣[3] 

机构地区：[1]中山大学附属第一医院肾内科,广东广州510080 [2]中山大学中山医学院医学统计学教研室,广东广州510080 [3]中山大学中山医学院医学遗传学教研室,广东广州510080 [4]香港大学玛丽医院内科 [5]Department of Medicine,Hammersmith Hospital,Imperial College,London

出　　处：《中山大学学报（医学科学版）》2005年第3期260-263,共4页Journal of Sun Yat-Sen University:Medical Sciences

基　　金：美国中华医学基金资助项目(98鄄677);国家自然科学基金资助项目(30170434;30170523);广东省自然科学基金资助项目(20013140)

摘　　要：【目的】探讨转化生长因子β1(TGFβ1)基因鄄509C/T多态性与中国汉族人群IgA肾病的相关关系。【方法】PCR鄄RFLP鉴定基因型,采用病例鄄对照与临床病理资料分析的方法,并行病例追踪随访。【结果】①387例IgA肾病病人的3种基因型与203例正常人对照组相比,分布频率无统计学意义,P>0.05。②临床资料显示:年龄、性别、血压、血尿、蛋白尿、血清IgA水平等临床指标中任何基因型的分布频率无统计学意义,P>0.05。③病理资料显示:CC基因型在肾小球中重度系膜增生病人中有较高的出现频率,而TT基因型相应明显减少,P<0.01;CC基因型在肾小球硬化组的分布频率显著增加,P<0.05。④进一步的病例追踪随访显示:CC基因型和C等位基因的IgA肾病病人尿蛋白好转率明显低于其它基因型,P<0.05。【结论】中国汉族人群中,TGFβ1基因鄄509C/T多态性可能与较重的肾损害、肾小球硬化、尿蛋白转归相关;但和IgA肾病的遗传易感性不相关。Objective] To investigate the relationship of TGFβ1 -509C/T polymorphism with IgA nephropathy in Han nationality of Chinese population. [Methods] TGFβ1 -509C/T genotypes were determined by PCR-RFLP in the case-control study. The patients were followed up and the clinical data were retrieved and compared. [Results] (1) No significant difference was found in either genotype distribution or allele frequencies between IgA nephropathy patients ( n=387 ) and control group ( n=203 ), P > 0.05. (2) No correlation was found in the -509C/T polymorphism of TGFβ1 with sex, age, blood pressure, gross hematuria, urinary protein, Scr and Serum IgA level, P > 0.05. (3) The CC genotype frequency was higher in patients with med+ heavy degree membranoproliferation corresponding TT genotype significantly decreased, P < 0.01;The CC genotype frequency also significantly higher in patients with glomerulosclerosis than the other genotypes, P < 0.05. (4) The CC genotype and C allele both was associated with poor recovery of albuminuria, P < 0.05. [Conclusion] TGFβ1-509 C/T polymorphism may be associated with serious renal tissue lesion and albuminuria even glomerulosclerosis, IgA nephropathy patients with CC genotype or C allele were not benefited. However, this polymorphism was not associated with susceptibility to IgA nephropathy in Chinese Han nationality.

关 键 词：IGA肾病 转化生长因子Β 基闲多态性 基因型 

分 类 号：R692.31[医药卫生—泌尿科学]