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Haplotype-based association study between PRCP gene polymorphisms and essential hypertension in Hani minority group from a remote region of China

机译:中国遥远地区汉省少数民族基因多态性与必需高血压的基于单倍型的关联研究

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摘要

Objective: Prolylcarboxypeptidase (PRCP) is both involved in the Kallikrein-Kinin system (KKS) and renin-angiotensin-aldosterone system (RAAS). This study aimed to determine the genetic impact of PRCP gene polymorphisms on essential hypertension (EH) in an isolated population from a remote region of China. Methods: A haplotype-based study was investigated in 346 EH patients and 346 normal subjects and all samples were Hani minority residents in Southwest China. A total of 11 tag single nucleotide polymorphisms (SNPs) in PRCP gene were tested by polymerase chain reaction-restriction fragment length polymorphism method. Results: Single site analysis found that PRCP gene 3′UTR SNP rs3750931 was associated with EH. The minor allele G of rs3750931 was more prevalent in the EH patients compared to control subjects after Bonferroni correction ( p  < 0.05). Moreover, the rs3750931 G allele carriers showed higher average blood pressure (BP) level among the subjects. The H2 (GAGCACTAACA) haplotype without rs3750931 G allele showed the protective effect for EH (OR = 0.68, 95 CI 0.54–0.85, p  = 0.001). Conclusion: The present study indicated PRCP gene rs3750931 was associated with the risk of EH. This SNP G allele could be considered as one of risk markers for EH in Hani population.
机译:目的:脯氨酸羧酸酶(PRCP)都涉及Kallikrein-Kinin系统(KKS)和肾素 - 血管紧张素 - 醛固酮系统(RAAs)。本研究旨在确定来自中国偏远地区的分离群体对本质高血压(EH)对本质群体的遗传影响。方法:在346例患者中研究了一种基于单倍型的研究,346名正常受试者,所有样品在中国西南部的汉尼少数民族居民。通过聚合酶链反应限制片段长度多态性方法测试PRCP基因中总共11个标签单核苷酸多态性(SNP)。结果:单现场分析发现,PRCP基因3'UTRSNP RS3750931与EH相关。与Bonferroni校正后的对照受试者相比,EH患者的次要等位基因G在EH患者中更普遍(P <0.05)。此外,RS3750931G等位基因载体在受试者中显示出更高的平均血压(BP)水平。没有RS3750931g等位基因的H 2(Gagcactaaca)单倍型显示了EH(或= 0.68,95CI 0.54-0.85,P = 0.001)的保护作用。结论:本研究表明,PRCP基因RS3750931与EH的风险有关。这种SNP G等位基因可以被认为是汉尼人口EH的风险标记之一。

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