Uteroglobin基因G38A多态性与IgA肾病相关关系  

Study of Uteroglobin G38A Polymorphism with IgA Nephropathy

作　　者：杜勇[1] 李幼姬[1] 李彩霞[2] 郭辉[3] Joseph CK Leung Man F Lam 杨念生[1] 黄锋先[1] 方积乾[2] Patrick H Maxwell 黎嘉能[4] 王一鸣[3] 

机构地区：[1]中山大学附属第一医院肾内科教育部肾脏病临床研究重点实验室,广东广州510080 [2]中山大学公共卫生学院统计学教研室,广东广州510080 [3]中山大学医学遗传学教研室,广东广州510080 [4]香港大学玛丽医院内科 [5]DepartmentofMedicine

出　　处：《中山大学学报（医学科学版）》2004年第3期200-203,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(98-677);国家自然科学基金资助项目 (30170434);广东省自然科学基金资助项目(20013140)

摘　　要：【目的】 研究Uteroglobin 基因G38A多态性与我国IgA肾病的相关关系? 【方法】 用PCR-RFLP法和PCR产物直接测序法鉴定基因型,采用以家庭为基础的传递不平衡检验(transmission disequilibrium test ,TDT)?单倍体相对风险(haplotype-based haplotype relative risk, HRR)分析,以及病例-对照研究分析Uteroglobin 基因G38A多态性与我国IgA肾病的相关关系?【结果】 ① GG基因型在IgA肾病伴高血压组与肾功能进展组中的分布频率显著高于AA +GA(P=0.042,χ2=4.117;P=0.039,χ2=4.240)(病例组362例?正常对照组201例);② 135个满足TDT分析的核心家庭中,杂合子父母传递给患病子代的等位基因频率不比预期值高(χ2=0.457, P=0.499);③ HRR分析显示此多态性不使患者具有更高的发病风险(χ2=0.520, P=0.471, HRR=0.878)?【结论】 Uteroglobin GG基因型可能和IgA肾病的进展及高血压相关,但和IgA肾病的易感性不相关?Objective To investigate the relationship of Uteroglobin G38A polymorphism with I-gA nephropathy. Methods Uteroglobin G38A genotypes were identified by PCR-RFLP and direct se-quence. Two family-based designs: transmission disequilibrium test (TDT) and haplotype-based haplo-type relative risk (HRR), and case-control study were used to analysis the data. Results ① The GG genotype frequency was higher in patients with hypertension and progressed renal impairment than that of the GA+AA genotypes(P=0.042,χ2=4.117;P=0.039,χ2=4.240). There was no signifi-cant difference in genotype distribution and allele frequencies between IgA nephropathy(n=362) and control group (n=201) (P >0.05); ② No transmission disequilibrium was found from heterozy-gous parents onto patients in our 135 trios analyzed by TDT(χ2=0.457, P=0.499); ③ HRR analy-sis showed no increase risk of the G38A polymorphism to the disease (χ2=0.520, P=0.471, HRR=0.878) Conclusion Uteroglobin 38GG genotype was associated with hypertension and progres-sion in patients with IgA nephropathy, but G38A polymorphism was not associated with susceptibility to IgA nephropathy in the Chinese population.

关 键 词：Uteroglobin基因 基因多态性 IGA肾病 聚合酶链反应 遗传病理学 

分 类 号：R692.31[医药卫生—泌尿科学]