台湾青年发病型高血压研究中全基因组扫描定量血管紧张素转换酶活性
Genome-wide scan for quantitative ACE activity in Taiwan young-onset hypertension study.
作者信息
Wang Ruey-Yun, Chung Chia-Min, Fann Cathy S J, Yang Hsin-Chou, Chen Jaw-Wen, Jong Yuh-Shiun, Jou Yuh-Shan, Lo Huey-Ming, Ho Feng-Ming, Kang Chih-Sen, Chen Chien-Chung, Chang Huan-Cheng, Shyue Song-Kun, Pan Wen-Harn
机构信息
Graduate Institute of Life Science, National Defense Medical Center, Taipei, Taiwan, ROC.
出版信息
Hum Hered. 2008;65(2):85-90. doi: 10.1159/000108940. Epub 2007 Sep 26.
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 <or=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.
目的
血管紧张素转换酶（ACE）在心血管疾病（CVD）的发病机制中起主要作用。然而，关于ACE基因变异与CVD之间关系的研究结果并不一致。本研究的目的是绘制血清ACE活性的数量性状基因座（QTL），血清ACE活性是心血管疾病的一种可遗传的内表型（估计遗传力=0.58）。
方法
对来自373个早发（年龄≤40岁）高血压家系的1271名个体，对479个deCODE微卫星标记进行基因分型。
结果
除了在17号染色体上89.6 cM处的ACE结构基因座附近有一个强连锁峰（LOD = 4.60）外，我们还在9号染色体上149.4 cM处发现了一个以前未知的基因座（LOD = 3.00）。
结论
这些结果不仅表明17q上的ACE基因或其附近基因座是影响ACE活性的最强QTL之一，还揭示了人类基因组中一个潜在的ACE QTL，表明ACE调控的复杂性。
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