中国汉族人群TCRCα基因-575A/G多态性与IgA肾病临床病理的相关分析  

Relationship of TCRCα-575 A/G polymorphism with IgA nephropathy in Chinese population of the Han nationality

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

机构地区：[1]中山大学附属第一医院肾脏内科,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,中国香港000852 [5]Department of Medicine,Hammersmith Hospital,Imperial College,London,UK W1D6EY

出　　处：《第四军医大学学报》2005年第22期2079-2082,共4页Journal of the Fourth Military Medical University

基　　金：美国中华医学基金(98-677);国家自然科学基金(30170434);广东省自然科学基金(20013140)

摘　　要：目的:探讨T细胞受体保守域α链基因(TCRCα)-575 A/G多态性与中国汉族人群IgA肾病临床病理的相关关系.方法:PCR-RFLP法和PCR产物直接测序法鉴定基因型,对IgA肾病患者的临床及病理资料进行相关分析,并对病例进行追踪随访.结果:①291例患者临床资料分析显示:在伴有肉眼血尿患者中AA基因型的出现频率显著性升高(P<0.05);在年龄、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均无统计学意义(P>0.05).②294例患者病理资料分析显示:在IgA肾病Haas分级的Ⅱ+Ⅲ级的患者中,AA基因型其分布频率相对于其他基因型有显著增加(P<0.05).③219例IgA肾病患者,TCRCα基因-575 A/G不论是基因型还是等位基因,在肾功能稳定组与进展组相比较均未见显著性差异(P>0.05).结论:中国汉族人群中,TCRCα基因-575 A/G多态性可能和肉眼血尿的发生、系膜增生相关,但可能与肾功能进展不相关.AIM： To investigate the relationship of T cell receptor constant alpha chain gene （TCRCα）-575 A/G polymorphism with clinical and pathological characteristics of IgA nephropathy in Chinese population of Han nationality. METHODS： TCRCα-575 A/G genotypes were determined by PCR-RFLP and direct sequencing and clinical and pathological documents of IgA nephropathy were studied. The patients were followed up and the clinical data were retrieved and compared. RESULTS： ① Clinical data of 291 cases of IgA nephropathy showed that, the AA genotype frequency was significantly higher in patients with gross hematuria （ P 〈0.05）, and no significant difference was found in genotype distribution among sex, age, blood pressure, urinary protein, serum IgA level, C-reaction protein, erythrocyte sedimentation and alexin C3 （ P 〉 0.05 ）. ②Pathological data of 294 cases of IgA nephropathy showed that,the AA genotype frequency was significantly higher than other genotypes in patients of Haas grade Ⅱ ＋ Ⅲ （P 〈 0.05）. ③219 cases of IgA nephropathy had been followed up for nearly 3 years. Neither genotype nor allele was associated with progressively declining renal function （P 〉 0.05）. CONCLUSION： TCRCα-575 A/G polymorphism may be associated with gross hematuria, but with the prognosis of chronic renal failure in Chinese Han national patients with IgA nephropathy.

关 键 词：肾小球肾炎 IgA T细胞受体 多态现象(遗传学) 

分 类 号：R692.31[医药卫生—泌尿科学]