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肾脏病与透析肾移植杂志 ›› 2014, Vol. 23 ›› Issue (5): 418-421.

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慢性肾脏病与非肌性肌球蛋白重链9基因多态性相关性

  

  • 出版日期:2014-10-28 发布日期:2014-11-03

Chronic kidney disease and polymorphisms in MYH9 in Chinese patients

  • Online:2014-10-28 Published:2014-11-03

摘要:

【摘要】目的 探讨我国慢性肾脏病(CKD)(CKD)患者与非肌性肌球蛋白重链9(MYH9)基因多态性的相关性。方法 选取301例CKD患者作为CKD组,294名体检健康者作为非CKD组。采用PCR法检测MYH9基因rs3752462、rs4821480两位点基因多态性,分析MYH9不同基因型与CKD患者的发病年龄、性别、血压、24h尿蛋白定量、血肌酐、肾小球滤过率、原发病及服用降压药频率的相关性.。结果 单因素分析结果显示:CT基因型患者的收缩压(147.94±27.40)mm Hg高于CC基因型(136.43±19.09)mm Hg, P<0.05;CC基因型患者的肾小球滤过率[(32.00±29.98])显著高于CT基因型 (21.62±23.67,P<0.05)及TT基因型(21.99±24.18,P<0.05)。校正年龄因素后,多因素Logistic回归分析结果显示:rs3752462位点CC基因型是CKD收缩压增高的保护因素,CT基因型CKD患者患高血压的概率是CC基因型的0.175倍,95%CI:0.071~0.431;rs3752462位点CC基因型是CKD病情发展至ESRD的独立保护因素,CC基因型肾小球滤过率是TT基因型的0.410倍, 95%CI:0.183~0.922。结论 携带MYH9基因rs3752462位点CC基因型的CKD患者比较不易患高血压,且肾小球滤过率高损害进展慢,CC基因型是CKD患者的保护因素,等位基因C突变为T可导致收缩压升高甚至ESRD的发生。

关键词: 慢性肾脏病, 非肌性肌球蛋白重链9, 基因多态性

Abstract:

【Abstract】Objective: To explore the association between polymorphisms in MYH9 and Chronic kidney disease in Chinese. Methodology: Five hundred and ninety-five cases, including 301 patients with chronic kidney disease and 294 healthy controls, were enrolled in the this study. Two single nucleotide polymorphisms (SNPs) (rs3752462, rs4821480) were genotyped by TaqMan assay or a restriction fragment length polymorphism assay for a further case–control study. The discrepancies of the patients’ quantitive traits (including age, sex, urinary protein in 24 hour, Serum creatinine, glomerular filtration rate, systolic and diastolic blood pressure, frequency of different primary diseases and frequency of using different kinds of antihypertensive drugs) among different genotypes of the two MYH9 SNPs were analyzed. Results Single factor analysis showed that systolic blood pressure in patients with CT genotype was significantly higher (148±27.4) than that in patients with CC genotype (136±19.1) (P<0.05). Glomerular filtration rate in CC genotype was also significantly higher than that in CT (P<0.05), and TT genotype (P<0.05). After correcting the age factor, Logistic regression indicated that CC genotype was a protective factor of increasing systolic blood pressure. The probability of high blood pressure for CT genotype patients with CKD was 0.175 times that of CC genotype (95%CI:0.071~0.431). Conclusions: The CKD patients who carry the rs3752462 site CC genotype of MYH9 gene are not prone to high blood pressure, and glomerular filtration rate is higher. CC genotype is the independent protective factors of CKD . It may indicate that allele C mutation for T can lead to the increase in systolic blood pressure and even may cause ESRD.

Key words: Chronic kidney disease, MYH9, Gene polymorphism