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学科主题肾脏病学
NPHS1基因多态性与IgA肾病的相关性
其他题名Association of NPHS1 gene polymorphism with IgA nephropathy
于磊; 李贵森; 吕继成; 王彩丽; 张宏
关键词Iga肾病 Nphs1基因 多态性 Iga Nephropathy Nphs1 Gene Polymorphism
刊名中华医学杂志
2009
DOI10.3760/cma.j.issn.0376-2491.2009.13.005
89期:13页:881-885
收录类别中国科技核心期刊 ; 中文核心期刊 ; CSCD
文章类型Journal Article
摘要目的 探讨中国北方人群肾病蛋白(Nephrin)基因G349A多态性对IgA肾病蛋白尿程度,肾功能以及预后的影响.方法 选择经肾活检病理诊断确诊的原发性IgA肾病患者532例,采用聚合酶链式反应-限制性片段长度多态性(PCR-RELP)方法检测NPHS1基因G349A多态性,选取单纯血尿和大量蛋白尿的IgA患者各16例进行PCR产物测序,对酶切结果进行验证.收集患者的年龄、性别、尿蛋白程度、肾功能和病理等临床资料,比较不同基因型之间临床表现的差异.并且对其中138例患者进行了随访观察,研究IgA肾病患者不同基因型对预后的影响.结果 在具有完整临床资料的532例IgA肾病患者中,单纯性血尿与蛋白尿,以及不同程度蛋白尿患者中,各等位基因及基因型的分布无统计学意义,然而,肾活检时肾功能损害重的患者[估计肾小球滤过率,Egfr<60 ml·min-1·(1.73 m2)-1]携带G等位基因的基因型(AG/GG)的频率明显高于Egfr≥60 ml·min-1·(1.73 m2)-1的患者,有统计学差异(P=0.008);多因素Logistic回归分析提示NPHS1的G349A基因型AG/GG是除发病时年龄、高血压、蛋白尿外引起肾脏损害加重的独立危险因素(P=0.011,OR=2.041),采用Cox比例风险模型将多因素对预后的影响进行分析,结果提示G349A基因型GG是除发病时年龄、高血压、蛋白尿和发病时Egfr水平以外影响肾病患者预后的独立危险因素(P<0.001,OR=14.086).结论 本研究提示NPHS1基因G349A多态性的G等位基因及AG/GG基因型与Iga肾病患者发病时肾脏损害的严重程度相关,GG基因型和lgA肾病患者的预后相关. Objective To investigate the association of the polymorphism of NPHS1, coding gene of nephrin, with the degree of proteinuria, renal function, and prognosis of IgA nephropathy (IgAN) in patients in north China. Methods Peripheral blood samples were collected from 532 patients with IgAN confirmed by biopsy, 285 males and 230 females, aged (31 ± 11). Genomic DNA was isolated from the peripheral blood leucocytes. Polymorphism of the exon G349A of NPHS1 was detected by polymerase chain reaction combined with restriction fragment length polymorphism (PCR-RFLP). 138 patients were followed up for 4 -99 months. The correlation between the NPHS1 polymorphism and renal function at the time of renal biopsy, and that between NPHS1 polymorphism and the prognosis were analyzed. Results The frequency of the genotype with the allele G (AG/GG) in the patients with the estimated glomerular filtration rate (eGFR) <60 ml· min-1 (1.73 m2)-1 was significantly higher than that of the patients with the eGFR >60 ml · min-1 (1.73 m2)-1(P=0. 008). Even after adjusting for the effects of proteinuria , hypertension, and age, AG/GG genotype was an independent risk factor of the exacerbation of renal damage at the time of diagnosis(P = 0. 011), and GG genotype was an independent risk factor of the prognosis (P < 0.001). Conclusion G allele and AG/GG genotype are associated with the severity of renal function at the time of diagnosis the GG genotype is associated with the prognosis of IgAN patients.
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文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/46093
Collection北京大学第一临床医学院_肾脏内科
作者单位北京大学第一医院肾内科北京大学肾脏疾病研究所,100034
Recommended Citation
GB/T 7714
于磊,李贵森,吕继成,等. NPHS1基因多态性与IgA肾病的相关性[J]. 中华医学杂志,2009,89(13):881-885.
APA 于磊,李贵森,吕继成,王彩丽,&张宏.(2009).NPHS1基因多态性与IgA肾病的相关性.中华医学杂志,89(13),881-885.
MLA 于磊,et al."NPHS1基因多态性与IgA肾病的相关性".中华医学杂志 89.13(2009):881-885.
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