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海湾地区人群中血管紧张素原基因突变与高血压及心肌梗死的关联。

Associations of angiotensinogen gene mutations with hypertension and myocardial infarction in a gulf population.

作者信息

Frossard P M, Hill S H, Elshahat Y I, Obineche E N, Bokhari A M, Lestringant G G, John A, Abdulle A M

机构信息

Department of Pathology, Faculty of Medicine and Health Sciences, Al Ain, United Arab Emirates.

出版信息

Clin Genet. 1998 Oct;54(4):285-93. doi: 10.1034/j.1399-0004.1998.5440405.x.

DOI:10.1034/j.1399-0004.1998.5440405.x
PMID:9831339
Abstract

To date, the human angiotensinogen (AGT) gene and some of its variants represent the best examples of genetic influences that are involved in the determination of essential hypertension (EH) and associated cardiovascular diseases (CVDs). To assess the value of genotyping AGT in a genetically homogeneous population, we carried out a retrospective, case control study of variants M235T and T174M for putative correlations with CVDs among nationals from the United Arab Emirates (Emirati)--an ethnic group characterized by no alcohol intake and no cigarette smoking. We investigated a sample population of 229 Emirati (119 males and 110 females), comprising groups of controls and patients with clinical diagnoses of EH, left ventricular hypertrophy (LVH), ischaemic heart disease (IHD) and myocardial infarction (MI). M235T and T174M alleles were determined via assays based on the polymerase chain reaction. T174M showed no correlation with any of the four clinical entities included in this study. T235 alleles, however, occurred more frequently in the EH group and less frequently in the group of MI survivors. We also found that T235 allele frequencies decreased with age, indicating that in the Emirati population, T235 alleles are associated with a reduced life span and that this effect could occur through independent mechanisms underlying genetic susceptibilities to both EH and MI.

摘要

迄今为止,人类血管紧张素原(AGT)基因及其某些变体是遗传影响的最佳实例,这些遗传影响参与了原发性高血压(EH)及相关心血管疾病(CVD)的发病过程。为了评估在基因同质人群中对AGT进行基因分型的价值,我们开展了一项回顾性病例对照研究,研究对象为阿拉伯联合酋长国国民(阿联酋人)中的M235T和T174M变体,以探究其与CVD的潜在相关性。阿联酋人这一群体的特点是不饮酒、不吸烟。我们调查了229名阿联酋人(119名男性和110名女性)的样本群体,包括对照组以及临床诊断为EH、左心室肥厚(LVH)、缺血性心脏病(IHD)和心肌梗死(MI)的患者组。通过基于聚合酶链反应的检测方法确定M235T和T174M等位基因。T174M与本研究纳入的四种临床病症均无相关性。然而,T235等位基因在EH组中出现的频率更高,而在MI幸存者组中出现的频率更低。我们还发现T235等位基因频率随年龄增长而降低,这表明在阿联酋人群中,T235等位基因与较短的寿命相关,并且这种影响可能通过对EH和MI的遗传易感性的独立机制而发生。

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