肌球蛋白重链9基因单核苷酸多态性与内蒙古自治区汉族IgA肾病临床、病理及预后的关系  

Association of MYH9 gene single nucleotide polymorphism with clinic,pathology and prognosis of IgA nephropathy patients among Han nationality population in Inner Mongolia

作　　者：王彩丽[1] 田园青[2] 刘丽萍[1] 贾妮亚[1] 南蕾[1] 

机构地区：[1]内蒙古自治区包头医学院第一附属医院肾内科,014010 [2]天津市海河医院肾内科

出　　处：《中华肾脏病杂志》2012年第10期780-784,共5页Chinese Journal of Nephrology

摘　　要：目的探讨肌球蛋白重链（MYH）9基因单核苷酸多态性与内蒙古自治区汉族IgA肾病患者临床特征、病理及预后的关系。方法以经肾组织活检确诊的IgA肾病患者148例为研究对象，对其中56例患者进行了1-97月的随访。取外周血提取DNA，采用PCR限制性片段长度多态性分析（RFLP）法检测MYH9基因Rs3752462、Rs4821480位点单核苷酸多态性。研究各位点基因型与IgA肾病患者临床特征的相关性。分析不同基因型与疾病进展和预后的关系。结果（1）Rs3752462位点符合Hardy-Weinberg平衡，Rs4821480位点不符合Hardy-Weinberg平衡。（2）IgA肾病患者MYH9基因Rs3752462位点1rr基因型患者的收缩压低于CC＋CT基因型（P〈0．05）。Rs4821480位点GG基因型与Tr＋GT基因型两组患者收缩压、舒张压、年龄差异有统计学意义（P〈0．05）。Scr、肌酐清除率、血自蛋白、血红蛋白、镜下血尿、蛋白尿程度等临床指标及病理HASS分级、肾病理改变在Rs4821480位点、Rs3752462位点3种基因型组间差异无统计学意义。（3）Kaplan-Meier生存分析提示Rs3752462位点cc基因型、Rs4821480位点Tr基因型患者肾活检到肾功能减退时间显著较短（P〈0．05）。结论MYH9基因Rs3752462位点C等位基因是引起IgA肾病患者高血压损害的独立危险因素。MYH9基因Rs4821480位点3种基因型多态性与患者预后相关。携带Rs3752462位点C等位基因、Rs4821480位点T等位基因可能影响患者的预后。Objective To study the association of MYH9 gene single nucleotide polymorphism （SNP） with clinical manifestation, pathology and prognosis of IgA nephropathy （IgAN） patients of Han nationality population in Inner Mongolia Autonomous Region. Method One hundred and forty-eight IgAN patients proven by biopsy were enrolled in the study. Fifty-six patients were followed up for 1-97 months. DNA was extracted from the peripheral blood of above patients. PCR restriction fragment length polymorphism （RFLP） assay was used to detect the single nucleotide polymorphisms of MYI-I9 gene Rs3752462, Rs4821480 sites. Association of different genotypes with clinical features, pathology and prognosis im patients with IgA nephropathy was examined. Result （1） Rs3752462 site was consistent with Hardy-Weinberg equilibrium,while Rs4821480 site did not meet the Hardy-Weinberg equilibrium. （2） IgAN patients with MYH9 gene Rs3752462 site Tr genotype had lower systolic blood pressure as compared to those with CC＋CTgenotype （P〈0.05）. There were significant differences in systolic blood pressure, diastolic blood pressure and age between patients with Rs4821480 site GG genotype and patients with Tr or GT genotype （P〈0.05）. There were no significant differences in Scr, Ccr, plasma albumin, hemoglobin, microscopic hematuria, proteinuria, pathological HASS classification, pathological lesion among Rs4821480 site GG, Tr, GT genotypes. （3） Kaplan-Meier survival analysis revealed the time from renal biopsy to renal function decline was shorted in patients with Rs3752462 site CC genotype and Rs4821480 site Tr genotype. Conclusions C allele of MYH9 gene Rs3752462 site is an independent risk factor of high blood pressure damage in IgAN patients. Polymorphism of 3 genotypes of MYH9 gene Rs4821480 site is associated to the prognosis of patients. Carrying Rs3752462 site C allele and Rs4821480 site T allele may affect the prognosis of patients.

关 键 词：肌球蛋白重链9 多态性 单核苷酸 IGA肾病 

分 类 号：R692.3[医药卫生—泌尿科学]