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Do genetic defects of DNA repair relevant proteins alter susceptibility to hypertension? A case-control study in northeastern Han Chinese

机译:DNA修复相关蛋白质的遗传缺陷会改变对高血压的敏感性吗?东北汉人的病例对照研究

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The aim of this study was to examine the individual and interactive associations of five non-synonymous variants of four DNA repair relevant genes (XRCC1, XRCC3, hOGG1, NQ01) with hypertension in a large northeastern Han Chinese population. This was a hospital-based study involving 1009 hypertensive patients and 756 normotensive controls. All five variants satisfied the Hardy-Weinberg equilibrium. With a Bonferroni corrected alpha of 0.05/5, significance was only attained in the genotype (P = 0.007) and allele (P = 0.006) distributions of rs25487 in XRCC1 gene between patients and controls, with its mutant allele conferring 29% (95% CI: 1.09-1.53; P = 0.003), 31% (95% Cl: 1.05-1.62; P = 0.015) and 66% (95%Cl: 1.10-2.52; P = 0.016) increased risks of hypertension under the additive, dominant and recessive models, respectively after adjusting for confounders. The frequency of allele combination C-A-C-G-C (alleles in order of rs1799782, rs25487, rs861539, rs1052133 and rs1800566) was significantly higher in patients than in controls (P = 0.003), while that of C-G-C-C-C was significantly lower (P = 0.001). Interaction analysis failed to identify any suggestive evidence of synergism across five examined variants. Our findings provide evidence for a contributory role of XRCC1 gene rs25487 variant in the development of hypertension, and this variant possibly acted in a recessive pattern. (C) 2014 Elsevier B.V. All rights reserved.
机译:这项研究的目的是检查东北汉族人群中与高血压相关的四个DNA修复相关基因(XRCC1,XRCC3,hOGG1,NQ01)的五个非同义变体的个体和互动关联。这是一项基于医院的研究,涉及1009名高血压患者和756名血压正常对照。所有五个变体都满足Hardy-Weinberg平衡。 Bonferroni校正的alpha为0.05 / 5,只有在患者和对照组之间XRCC1基因的rs25487的基因型(P = 0.007)和等位基因(P = 0.006)分布中才有意义,其突变体等位基因占29%(95%) CI:1.09-1.53​​; P = 0.003),在添加剂的情况下,高血压风险增加31%(95%Cl:1.05-1.62; P = 0.015)和66%(95%Cl:1.10-2.52; P = 0.016),调整混杂因素后,分别采用优势模型和隐性模型。患者中等位基因组合C-A-C-G-C的频率(按rs1799782,rs25487,rs861539,rs1052133和rs1800566排列的等位基因)显着高于对照组(P = 0.003),而C-G-C-C-C的频率则显着较低(P = 0.001)。相互作用分析未能发现在五个检查的变体之间存在协同作用的任何暗示证据。我们的发现为XRCC1基因rs25487变体在高血压的发展中起着重要作用提供了证据,并且该变体可能以隐性模式起作用。 (C)2014 Elsevier B.V.保留所有权利。

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