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尼日利亚人、牙买加人和非裔美国人的血管紧张素转换酶多态性、血管紧张素转换酶水平与血压

Angiotensin I-converting enzyme polymorphisms, ACE level and blood pressure among Nigerians, Jamaicans and African-Americans.

作者信息

Bouzekri Nourdine, Zhu Xiaofeng, Jiang Yanming, McKenzie Colin A, Luke Amy, Forrester Terrence, Adeyemo Adebowale, Kan Donghui, Farrall Martin, Anderson Simon, Cooper Richard S, Ward Ryk

机构信息

Department of Biological Anthropology, University of Oxford, Oxford, UK.

出版信息

Eur J Hum Genet. 2004 Jun;12(6):460-8. doi: 10.1038/sj.ejhg.5201166.

Abstract

The genes in the renin-angiotensin system are important physiologic candidates in studies of the genetic susceptibility to hypertension. Limited information has been available in most studies on the extent of variation in the candidate loci or the modifying effects of different environmental settings. We consequently genotyped 13 polymorphisms at the angiotensin I-converting enzyme (ACE) locus at an average distance of 2 kb in 2776 family members from Nigeria, Jamaica and an African-American community in the US. Allele and haplotype frequencies were similar in the three populations, with modest evidence of European admixture in the US. Two markers were consistently associated with ACE level in the three samples and the proportion of variance accounted for by ACE8 was similar in the three groups. No evidence of consistent association of single markers was noted with blood pressure across the three population samples, however. Likewise, in a haplotype-based analysis, despite significant associations within each population, the findings were not replicated consistently across all three samples. We did observe, however, that the overtransmitted haplotypes among hypertensives were drawn from a single clade, suggesting that susceptibility may cluster in patterns not captured directly by our markers.

摘要

肾素-血管紧张素系统中的基因是高血压遗传易感性研究中重要的生理候选基因。在大多数研究中,关于候选基因座的变异程度或不同环境背景的修饰作用的信息有限。因此,我们对来自尼日利亚、牙买加和美国一个非裔美国人社区的2776名家庭成员,在血管紧张素I转换酶(ACE)基因座上平均间隔2 kb的13个多态性位点进行了基因分型。这三个人群的等位基因和单倍型频率相似,在美国人群中有适度的欧洲人基因混合的证据。在这三个样本中,有两个标记物始终与ACE水平相关,并且ACE8所解释的方差比例在三组中相似。然而,在这三个人群样本中,没有发现单一标记物与血压有一致关联的证据。同样,在基于单倍型的分析中,尽管在每个人群中都有显著关联,但这些发现并未在所有三个样本中得到一致的重复。不过,我们确实观察到,高血压患者中过度传递的单倍型来自一个单一的进化枝,这表明易感性可能以我们的标记物无法直接捕捉到的模式聚集。

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