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Genome-wide scan for quantitative ACE activity in Taiwan young-onset hypertension study

机译：全基因组扫描在台湾年轻发病高血压研究中定量ACE活性

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Objectives: Angiotensin converting enzyme ( ACE) plays major roles in the pathogenesis of cardiovascular diseases ( CVD). However, findings on the relations between ACE variants and CVD have not been consistent. The purpose of this study was to map quantitative trait loci ( QTL) for serum ACE activity, a heritable endophenotype of cardiovascular diseases ( estimated heritability = 0.58). Methods: With 1,271 individuals from 373 young- onset ( age <= 40) hypertension pedigrees, 479 deCODE microsatellite markers were genotyped. Results: We identified a previously unknown loci on chromosomes 9 at 149.4 cM ( LOD = 3.00) in addition to a strong linkage peak near the ACE structural locus on chromosome 17 at 89.6 cM ( LOD = 4.60). Conclusions: These results not only indicate that the ACE gene or nearby loci on 17q was among the strongest QTL influencing ACE activity, but also reveal a potential ACE QTL in human genome, pointing to the complexity of ACE regulation. Copyright (C) 2007 S. Karger AG, Basel.
机译：目的：血管紧张素转化酶（ACE）在心血管疾病（CVD）的发病机理中起主要作用。然而，关于ACE变体与CVD之间关系的发现并不一致。本研究的目的是针对血清ACE活性（一种可遗传的心血管疾病的内表型）作图的定量性状位点（QTL）进行定位（估计遗传性= 0.58）。方法：对来自373例年轻（≤40岁）高血压谱系的1,271例患者进行基因分型，分析了479个deCODE微卫星标记。结果：我们在染色体9的149.4 cM（LOD = 3.00）上鉴定出一个先前未知的基因座，此外在染色体17的ACE结构基因座附近的强连锁峰在89.6 cM（LOD = 4.60）上。结论：这些结果不仅表明ACE基因或17q上的附近基因座是影响ACE活性最强的QTL之一，而且还揭示了人类基因组中潜在的ACE QTL，这表明ACE调控的复杂性。版权所有（C）2007 S.Karger AG，巴塞尔。

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