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血管紧张素原基因错义多态性(rs699 和 rs4762):埃及人终末期肾衰竭风险与 2 型糖尿病和高血压的相关性。

Angiotensinogen Gene Missense Polymorphisms (rs699 and rs4762): The Association of End-Stage Renal Failure Risk with Type 2 Diabetes and Hypertension in Egyptians.

机构信息

Department of Zoology, Faculty of Science, Menoufia University, Menoufia 32511, Egypt.

International Research Center for Food Nutrition and Safety, Jiangsu University, Zhenjiang 212013, China.

出版信息

Genes (Basel). 2021 Feb 25;12(3):339. doi: 10.3390/genes12030339.

DOI:10.3390/genes12030339
PMID:33668947
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7996594/
Abstract

Type 2 diabetes mellitus (T2DM) and hypertension are common chronic diseases mainly associated with the development and progression of end-stage renal disease (ESRD) leading to morbidity and mortality. Gene polymorphisms linked to the renin-angiotensin ()-aldosterone system (RAAS) were broadly inspected in patients with diabetic nephropathy (DN) and hypertension. This study aimed to investigate the association of gene polymorphisms (rs699 and rs4762) with ESRD in T2DM hypertensive Egyptian patients. Genotyping of rs699 and rs4762 was conducted using the tetra-primers amplification refractory mutation system (ARMS-PCR). The allelic distribution analysis was performed on 103 healthy control subjects, 97 non-ESRD patients, and 104 patients with ESRD. The allelic frequencies of gene polymorphisms (rs4762 and rs699) in all study participants were assessed. For the non-ESRD group, the frequencies of the alleles of -rs4762 ( = 31.88, < 0.001, OR = 5.17, CI 95%: 2.81-9.51) and -rs699 ( = 4.85, = 0.027, OR = 1.56, CI 95%: 1.05-2.33) were significantly associated with the non-ESRD group. However, for the ESRD group, the T allele was significantly higher than that in the controls ( = 24.97, < 0.001, odds ratio (OR) = 4.35, CI 95%: 2.36-8.02). Moreover, (rs699) genotypes showed no significant difference between the ESRD group and controls. In conclusion, gene polymorphisms rs699 and rs4762 were associated with non-ESRD versus controls, without any significant risk observed in all patient groups. However, the (rs4762) variant showed a significant risk in the ESRD group in comparison to controls in Egyptians.

摘要

2 型糖尿病(T2DM)和高血压是常见的慢性疾病,主要与终末期肾病(ESRD)的发生和进展有关,导致发病率和死亡率上升。与肾素-血管紧张素()-醛固酮系统(RAAS)相关的基因多态性已在糖尿病肾病(DN)和高血压患者中广泛研究。本研究旨在探讨埃及 T2DM 高血压患者基因多态性(rs699 和 rs4762)与 ESRD 的关系。采用四引物扩增受阻突变系统(ARMS-PCR)检测 rs699 和 rs4762 的基因分型。对 103 名健康对照者、97 名非 ESRD 患者和 104 名 ESRD 患者进行了 rs4762 和 rs699 等位基因分布分析。评估了所有研究参与者基因多态性(rs4762 和 rs699)的等位基因频率。对于非 ESRD 组,-rs4762( = 31.88, < 0.001,OR = 5.17,95%CI:2.81-9.51)和-rs699( = 4.85, = 0.027,OR = 1.56,95%CI:1.05-2.33)的等位基因频率与非 ESRD 组显著相关。然而,对于 ESRD 组,T 等位基因显著高于对照组( = 24.97, < 0.001,比值比(OR)= 4.35,95%CI:2.36-8.02)。此外,在 ESRD 组和对照组之间,基因(rs699)基因型没有显著差异。综上所述,基因多态性 rs699 和 rs4762 与非 ESRD 组与对照组有关,而在所有患者组中未观察到任何显著风险。然而,在埃及人中,与对照组相比,基因(rs4762)变体在 ESRD 组中显示出显著的风险。

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