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Association of angiotensinogen gene SNPs and haplotypes with risk of hypertension in eastern Indian population

机译:印度东部人群中血管紧张素原基因SNP和单倍型与高血压风险的关系

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BackgroundAngiotensinogen (AGT) enzyme comprises a vital module of RAAS system that effectively controls the blood pressure and related cardiovascular functions. Ample association studies have reported the importance of AGT variants in cardiovascular and non-cardiovascular adversities. But lately, owing to the complexity of the many anomalies, the haplotype based examination of genetic variation that facilitates the identification of polymorphic sites which are located in the vicinity of the causative polymorphic site, gets greater appreciation. MethodsIn the present study, we have done genotype and haplotype analysis of AGT gene in reference to hypertension to confirm the association of the two in an Indian population. To accomplish this, we performed candidate SNPs analysis and construct possible haplotypes across the AGT promoter and gene region in 414 subjects (256 Hypertensive cases and 158 controls). ResultsWe found four SNPs (rs11568020: A-152G and rs5050: A-20C in promoter; rs4762 and rs699 in exon2) and 3 haplotypes (H4, H7 and H8) that showed a stronger positive association with hypertension. The haplotype H2 was showing protective association with hypertension. ConclusionThe results of the present study confirmed and reestablished the role of AGT gene variants and their haplotypes in the causation of hypertension in Indian population and showed that haplotypes can provide stronger evidence of association.
机译:背景血管紧张素原(AGT)酶是RAAS系统的重要模块,可有效控制血压和相关的心血管功能。大量的协会研究报告了AGT变异在心血管和非心血管疾病中的重要性。但是近来,由于许多异常的复杂性,基于遗传的基于单倍型的检查促进了对位于致病性多态性位点附近的多态性位点的识别,从而得到了更多的赞赏。方法在本研究中,我们参考了高血压对AGT基因进行了基因型和单倍型分析,以确认两者在印度人群中的关联。为此,我们进行了候选SNPs分析,并在414名受试者(256名高血压病例和158名对照)中跨AGT启动子和基因区域构建了可能的单倍型。结果我们发现4个SNP(启动子中的rs11568020:A-152G和rs5050:A-20C;外显子2中的rs4762和rs699)和3个单倍型(H4,H7和H8)与高血压呈正相关。 H2单倍型显示出与高血压的保护性联系。结论本研究结果证实并重新建立了AGT基因变异及其单倍型在印度人高血压病因中的作用,并表明单倍型可以提供更强的关联证据。

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