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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.

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。

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