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单核苷酸多态性与内蒙古地区汉族和蒙古族人群的原发性高血压相关。

Single Nucleotide Polymorphisms Are Associated With Essential Hypertension Among Han and Mongolian Population in Inner Mongolia Area.

作者信息

Zhang Yi, Chang Peiye, Liu Zhiyue

机构信息

Department of Medicine, Luoyang Polytechnic, Luoyang, China.

Department of Basic Medicine, Inner Mongolia Medical University, Hohhot, China.

出版信息

Front Genet. 2022 Aug 12;13:931803. doi: 10.3389/fgene.2022.931803. eCollection 2022.

Abstract

Aldosterone synthase () and α-adducing () are candidate genes that play key roles during essential hypertension (EH) incidence. However, the association between their genetic mutations and the risk of EH is unclear. The present study investigated specific single nucleotide polymorphisms (SNPs) from and , and their potential role as risk factors for EH based on 423 Mongolian and 410 Han people in Inner Mongolia province. In the allelic model, people with rs2239728-A presented a 0.74-fold risk than rs2239728-C, whereas the rs4961-T was associated with a 1.37-fold higher risk than allele G in the Han population. The genetic model reported that the rs2239728-A carrier (AA + AC) was 0.59-fold lower than the CC carrier, whereas the rs4961-G carrier (GG + GT) was 0.59-fold lower than the TT carrier in the dominant model. After gender adjustment, people with rs2239728-A was a 0.63-fold risk than -C in EH, but the rs4961-T carrier was associated with a 1.63-times higher risk than -G in females. Haplotype analysis showed that GCCT was associated with essential hypertension in the Han population, and it was a risk factor for EH. Our identification reported novel SNPs of with protective significance for EH among females in the Chinese Han population, together with its haplotype GCCT as a risk factor for EH.

摘要

醛固酮合成酶()和α-辅肌动蛋白()是在原发性高血压(EH)发病过程中起关键作用的候选基因。然而,它们的基因突变与EH风险之间的关联尚不清楚。本研究基于内蒙古自治区的423名蒙古族和410名汉族人群,调查了和的特定单核苷酸多态性(SNP),以及它们作为EH风险因素的潜在作用。在等位基因模型中,rs2239728-A携带者患EH的风险是rs2239728-C携带者的0.74倍,而在汉族人群中,rs4961-T携带者患EH的风险比等位基因G携带者高1.37倍。遗传模型显示,在显性模型中,rs2239728-A携带者(AA + AC)患EH的风险比CC携带者低0.59倍,而rs4961-G携带者(GG + GT)患EH的风险比TT携带者低0.59倍。在进行性别调整后,rs2239728-A携带者患EH的风险是rs2239728-C携带者的0.63倍,但在女性中,rs4961-T携带者患EH的风险比rs4961-G携带者高1.63倍。单倍型分析表明,GCCT与汉族人群的原发性高血压相关,是EH的一个风险因素。我们的研究发现了在中国汉族女性中对EH具有保护意义的新SNP,以及其单倍型GCCT作为EH的一个风险因素。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5096/9412030/41e7577f5f42/fgene-13-931803-g001.jpg

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