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-629C>A(rs1800775) 多态性与墨西哥人群原发性高血压发病的相关性研究。

Association of the -629C>A (rs1800775) Polymorphism with the Development of Essential Hypertension in Mexican Population.

机构信息

Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco, México.

División de Genética and Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México.

出版信息

Genet Test Mol Biomarkers. 2020 Jul;24(7):451-456. doi: 10.1089/gtmb.2020.0012. Epub 2020 Jun 18.

Abstract

Polymorphisms in the gene promoter have been associated with cardiovascular risk and lipid alterations; however, their role in the development of hypertension has not been extensively explored. We evaluated four polymorphisms of the gene -827C>T, -631C>A, -630C>A, and -629C>A in patients with essential hypertension (EH). A total of 160 hypertensive (HT) patients and 160 normotensive (NT) individuals were studied. Blood pressure was measured and blood samples were collected for biochemical anlayses and DNA extraction. Polymorphisms were identified using Sanger sequencing. Genotype, genotype combination, allele, and haplotype frequencies were analyzed. Associations between the SNPs and EH were explored using multiple linear regression models. Under the dominant model, the -629A allele reduced the odds of having EH (odds ratio [OR] = 0.58, 95% confidence interval [CI], 0.34-0.98;  = 0.04), whereas the genotype combination -631CC/-629CC increased the risk of HT (OR = 2.21, 95% CI, 1.23-3.95,  = 0.008). In HT patients, the -629A allele was associated with increased insulin levels ( = 4.0, 95% CI, 1.21-6.68,  = 0.005), and homeostatic model assessment of insulin resistance ( = 0.9, 95% CI, 0.17-1.72,  = 0.018), and in NT individuals it was associated with increased high-density lipoprotein cholesterol levels ( = 3.0, 95% CI, 0.20-5.78,  = 0.036). The -629A allele reduces the odds of having essential arterial hypertension in the Mexican population. Moreover, it exerts a variable effect on diverse biomarkers analyzed in both NT and HT groups.

摘要

基因启动子中的多态性与心血管风险和脂质改变有关; 然而,它们在高血压发展中的作用尚未得到广泛探讨。我们评估了四个基因的四个多态性-827C>T、-631C>A、-630C>A 和 -629C>A 在原发性高血压 (EH) 患者中。共研究了 160 例高血压 (HT) 患者和 160 例血压正常 (NT) 个体。测量血压并采集血液样本进行生化分析和 DNA 提取。使用 Sanger 测序鉴定多态性。分析基因型、基因型组合、等位基因和单倍型频率。使用多元线性回归模型探讨 SNP 与 EH 之间的关联。在显性模型下,-629A 等位基因降低了 EH 的发生几率(比值比 [OR] = 0.58,95%置信区间 [CI],0.34-0.98; = 0.04),而 -631CC/-629CC 基因型组合增加了 HT 的风险(OR = 2.21,95% CI,1.23-3.95, = 0.008)。在 HT 患者中,-629A 等位基因与胰岛素水平升高相关( = 4.0,95% CI,1.21-6.68, = 0.005),胰岛素抵抗的稳态模型评估( = 0.9,95% CI,0.17-1.72, = 0.018),而在 NT 个体中,它与高密度脂蛋白胆固醇水平升高相关( = 3.0,95% CI,0.20-5.78, = 0.036)。-629A 等位基因降低了墨西哥人群中原发性动脉高血压的发病几率。此外,它对 NT 和 HT 组中分析的多种生物标志物产生了可变的影响。

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