内皮素-1基因+138位插入/缺失A和+5665位G/T多态性与缅甸马圭地区缅甸人群高血压的关联

Associations of + 138 Ins/del A and + 5665 G/T polymorphisms of endothelin-1 gene with hypertension in Burmese people in Magway, Myanmar.

作者信息

Oo Win Min, Thiha Kyaw, Khine Myat Mon

机构信息

Department of Biochemistry, University of Medicine, Magway, Myanmar.

出版信息

Clin Hypertens. 2022 Jul 15;28(1):20. doi: 10.1186/s40885-022-00201-w.

DOI:10.1186/s40885-022-00201-w

PMID:35841119

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9284899/

Abstract

BACKGROUND

Hypertension is one of the major public health problems worldwide, and is one of the recognized causes of premature deaths every year in the world. The purpose of this study was to investigate the associations between the + 138 insertion/deletion of adenine (Ins/del A) and + 5665 guanine-to-thymine (G/T) polymorphisms of the endothelin-1 gene and hypertension in the residents of Magway Township, Myanmar.

METHODS

This study was a cross-sectional comparative study including 60 hypertensive patients and 60 control subjects in Magway Township, Myanmar. The inclusion criterion for hypertension was blood pressure ≥ 140/90 mmHg or previous diagnosis by a physician as hypertension and/or taking antihypertensive drugs. The control group had blood pressure < 140/90 mmHg and no previous diagnosis of hypertension. The genotyping was done by polymerase chain reaction and restriction fragment length polymorphism method.

RESULTS

In this study, the genotype distribution of the + 138 Ins/del A variant was significantly different between hypertensive patients and the control group, especially in the 3A4A genotype (odds ratio [OR], 2.451; 95% confidence interval [CI], 1.138-5.280; P = 0.022). Adenine insertion genotypes (3A4A and 4A4A) were significantly associated with hypertension in the dominant model (OR, 2.494; 95% CI, 1.179-5.276; P = 0.017). In addition, there was a significant association between the 4A allele and hypertension (OR, 1.771; 95% CI, 1.026-3.056; P = 0.040). The genotype and allelic distributions of the + 5665 G/T polymorphism were not significantly different between the hypertensive patients and the control group (P > 0.05). In this study, there was no significant association between the genotype and allele frequency, and hypertension (P > 0.05). The linkage disequilibrium was weak between the + 138 Ins/del A and + 5665 G/T loci (D' = 0.108, r = 0.009).

CONCLUSIONS

This study provides evidence that the + 138 Ins/del A rather than + 5665 G/T polymorphism is associated with hypertension in Burmese people.

摘要

背景

高血压是全球主要的公共卫生问题之一，也是全球每年公认的过早死亡原因之一。本研究的目的是调查缅甸马圭镇居民中内皮素-1基因+138位腺嘌呤插入/缺失（Ins/del A）和+5665位鸟嘌呤到胸腺嘧啶（G/T）多态性与高血压之间的关联。

方法

本研究为横断面比较研究，纳入了缅甸马圭镇的60例高血压患者和60例对照者。高血压的纳入标准为血压≥140/90 mmHg或曾被医生诊断为高血压和/或正在服用降压药物。对照组血压<140/90 mmHg且既往无高血压诊断。采用聚合酶链反应和限制性片段长度多态性方法进行基因分型。

结果

在本研究中，高血压患者和对照组之间+138 Ins/del A变异的基因型分布存在显著差异，尤其是在3A4A基因型中（优势比[OR]，2.451；95%置信区间[CI]，1.138 - 5.280；P = 0.022）。在显性模型中，腺嘌呤插入基因型（3A4A和4A4A）与高血压显著相关（OR，2.494；95% CI，1.179 - 5.276；P = 0.017）。此外，4A等位基因与高血压之间存在显著关联（OR，1.771；95% CI，1.026 - 3.056；P = 0.040）。高血压患者和对照组之间+5665 G/T多态性的基因型和等位基因分布无显著差异（P > 0.05）。在本研究中，基因型和等位基因频率与高血压之间无显著关联（P > 0.05）。+138 Ins/del A和+5665 G/T位点之间的连锁不平衡较弱（D' = 0.108，r = 0.009）。