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本文引用的文献

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A comprehensive evaluation of association between homocysteine levels and single nucleotide polymorphisms with hypertension risk: A protocol of systematic review and network meta-analysis.同型半胱氨酸水平与单核苷酸多态性和高血压风险之间关联的综合评估:系统评价与网络荟萃分析方案
Medicine (Baltimore). 2020 Jun 26;99(26):e20791. doi: 10.1097/MD.0000000000020791.
2
GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes.GWAS 和共定位分析提示颈动脉内膜中层厚度和颈动脉斑块部位与心血管结局相关。
Nat Commun. 2018 Dec 3;9(1):5141. doi: 10.1038/s41467-018-07340-5.
3
Heritability informed power optimization (HIPO) leads to enhanced detection of genetic associations across multiple traits.遗传力信息启发的功效优化(HIPO)可提高对多个性状的遗传关联的检测能力。
PLoS Genet. 2018 Oct 5;14(10):e1007549. doi: 10.1371/journal.pgen.1007549. eCollection 2018 Oct.
4
Independent of left ventricular mass, circulating inflammatory markers rather than pressure load are associated with concentric left ventricular remodelling.与向心性左心室重构相关的是循环炎症标志物,而不是压力负荷,且与左心室质量无关。
Int J Cardiol. 2019 Jan 1;274:342-347. doi: 10.1016/j.ijcard.2018.09.059. Epub 2018 Sep 19.
5
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.对超过 100 万人的基因分析确定了 535 个与血压特征相关的新基因座。
Nat Genet. 2018 Oct;50(10):1412-1425. doi: 10.1038/s41588-018-0205-x. Epub 2018 Sep 17.
6
2018 ESC/ESH Guidelines for the management of arterial hypertension.2018年欧洲心脏病学会/欧洲高血压学会动脉高血压管理指南。
Eur Heart J. 2018 Sep 1;39(33):3021-3104. doi: 10.1093/eurheartj/ehy339.
7
Oxidative stress and cardiovascular disease: new insights.氧化应激与心血管疾病:新的认识。
Kardiol Pol. 2018;76(4):713-722. doi: 10.5603/KP.a2018.0071. Epub 2018 Mar 14.
8
New Insights into the Role of Inflammation in the Pathogenesis of Atherosclerosis.炎症在动脉粥样硬化发病机制中的作用的新见解。
Int J Mol Sci. 2017 Sep 22;18(10):2034. doi: 10.3390/ijms18102034.
9
Oxidative Stress in Atherosclerosis.动脉粥样硬化中的氧化应激
Curr Atheroscler Rep. 2017 Sep 18;19(11):42. doi: 10.1007/s11883-017-0678-6.
10
Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function.大规模全基因组分析确定与心脏结构和功能相关的基因变异。
J Clin Invest. 2017 May 1;127(5):1798-1812. doi: 10.1172/JCI84840. Epub 2017 Apr 10.

第八号染色体上的 3 个单核苷酸多态性与哈萨克人群中心肌和颈动脉重塑的关联。

Association of 3 single nucleotide polymorphisms of the eighth chromosome with remodeling of the myocardium and carotid arteries in the Kazakh population.

机构信息

Medical Centre Hospital of President's Affairs Administration of the Republic of Kazakhstan.

Karaganda Medical University, Kazakhstan.

出版信息

Medicine (Baltimore). 2021 Feb 12;100(6):e24608. doi: 10.1097/MD.0000000000024608.

DOI:10.1097/MD.0000000000024608
PMID:33578567
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7886467/
Abstract

Cardiovascular diseases are one of the key health issues in Kazakhstan. According to the WHO, the prevalence of arterial hypertension (AH) was 28% in males and 25% in females in 2015, which puts up vastly to premature mortality from non-communicable diseases.The search for genetic features of target organ lesions processes in AH is relevant. The goal of this study was to search for the genetic markers of myocardial remodeling (MR) and carotid artery remodeling (CAR).A total of 866 hypertensive individuals were recruited in Nur-Sultan, Kazakhstan. Their blood was genotyped for 9 single nucleotide polymorphisms (SNPs) of the eighth chromosome to find an association with remodeling. The analysis was carried out in the group pairs (control and CAR, control and MR, and control and CAR and MR). The genotype-phenotype association was assessed using 5 different inheritance models: dominant, codominant, recessive, overdominant, and log-additive.Statistically significant results were found for 3 SNPs (rs2407103, rs11775334, rs2071518) which minor alleles enlarged risks of MR and CAR in AH in the studied population. Three polymorphisms have previously been associated with АН and some other traits like pulse pressure and blood glucose in other ethnic populations: rs2407103 - in Afro-American population, rs11775334 - in the European population, rs2071518 is well studied in various ethnic populations (European, South Asian, Afro-American, Hispanic, East Asian).

摘要

心血管疾病是哈萨克斯坦的主要健康问题之一。根据世界卫生组织的数据,2015 年哈萨克斯坦男性的动脉高血压(AH)患病率为 28%,女性为 25%,这大大增加了非传染性疾病导致的过早死亡率。因此,寻找 AH 靶器官病变过程的遗传特征是相关的。本研究的目的是寻找心肌重构(MR)和颈动脉重构(CAR)的遗传标志物。

在哈萨克斯坦努尔苏丹共招募了 866 名高血压患者。对他们的血液进行了第 8 号染色体 9 个单核苷酸多态性(SNP)的基因分型,以寻找与重构相关的遗传标记。在对照组和 CAR、对照组和 MR 以及对照组和 CAR 和 MR 这三组患者中进行了分析。使用 5 种不同的遗传模型(显性、共显性、隐性、超显性和对数相加)评估基因型-表型关联。

在 rs2407103、rs11775334 和 rs2071518 这 3 个 SNP 中发现了具有统计学意义的结果,它们的次要等位基因增加了 AH 患者发生 MR 和 CAR 的风险。这三个多态性之前与 АН 以及其他一些特征相关,如其他种族人群的脉压和血糖:rs2407103 在非裔美国人中,rs11775334 在欧洲人群中,rs2071518 在不同种族人群(欧洲人、南亚人、非裔美国人、西班牙裔、东亚人)中得到了很好的研究。