Polymorphic loci of AC026703.1 and HFE genes are associated with severe hypertension

T. Ivanova
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引用次数: 2

Abstract

Hypertension (HT) is characterized by high blood pressure (BP) and is one of the most common diseases in the world. At the moment, there is information in the literature about 1.5 thousand single-nucleotide polymorphic loci (SNP) associated with HP and BP according to genome – wide studies (GWAS). At the same time, replicative studies of GWAS significant genes in various populations, including Russian ones, are necessary. The aim of the study:To study the relationship of GWAS-significant polymorphic loci for HP with the stages of the disease. Materials and methods: For this study, two samples of patients with HT were formed: patients with stages 1-2 (n=384) and patients with stage 3 HT (n=555), and a control group of 466 people. For the experimental study, ten polymorphic loci of candidate genes associated with the development of HT were selected according to the data of GWAS conducted earlier. Associations were studied by the logistic regression method with a pperm level <0.05. Results: The association of two GWAS significant candidate genes AC026703.1 (rs1173771) and HFE (rs1799945) with the risk of severe HT formation (stage 3 of the disease) was revealed. Allelic variant A rs1173771 (G/A) AC026703.1 has a protective value for the severe course of the disease (ORdom=0.63 and 95%CIdom 0.41-0.98 pperm=0.048). The minor genotype GG rs1799945 (C/G) HFE significantly (more than 3 times) increases the risk of developing stage 3 HT (ORrec=3.25 and 95%CIrec 1.25-8.42 pperm=0.017). Associations of GWAS significant of polymorphic loci for HT with the development of stages 1-2 of the disease have not been established. Conclusion: Polymorphisms rs1799945 of the HFE gene (OR=3.25) and rs1173771 of the AC026703.1 gene (OR=0.63) are associated with the risk of developing stage 3 HT
AC026703.1和HFE基因多态性位点与重度高血压相关
高血压(Hypertension, HT)是一种以高血压(BP)为特征的疾病,是世界上最常见的疾病之一。目前,根据全基因组研究(genome - wide studies, GWAS),文献中有大约1500个与HP和BP相关的单核苷酸多态性位点(SNP)的信息。同时,有必要在包括俄罗斯种群在内的不同种群中进行GWAS显著基因的复制研究。研究目的:研究HP的gwas显著多态性位点与疾病分期的关系。材料与方法:本研究分为两组HT患者:1-2期(384例)和3期(555例),对照组466人。在实验研究中,根据前期GWAS的数据,选择了10个与HT发生相关的候选基因多态性位点。采用logistic回归方法研究相关性,pperm水平<0.05。结果:揭示了两个GWAS显著候选基因AC026703.1 (rs1173771)和HFE (rs1799945)与严重HT形成(疾病3期)风险的相关性。等位变异A rs1173771 (G/A) AC026703.1对疾病的严重病程具有保护价值(ORdom=0.63, 95% cdom = 0.41-0.98 pperm=0.048)。小基因型GG rs1799945 (C/G) HFE显著(超过3倍)增加了发生3期HT的风险(ORrec=3.25, 95%CIrec 1.25 ~ 8.42, pperm=0.017)。GWAS显著的HT多态性位点与1-2期疾病发展的关联尚未确定。结论:HFE基因rs1799945多态性(OR=3.25)和AC026703.1基因rs1173771多态性(OR=0.63)与发生3期HT的风险相关
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