Lechin M, Quiñones M A, Omran A, Hill R, Yu Q T, Rakowski H, Wigle D, Liew C C, Sole M, Roberts R
Department of Medicine, Baylor College of Medicine, Houston, Tex, USA.
Circulation. 1995 Oct 1;92(7):1808-12. doi: 10.1161/01.cir.92.7.1808.
The variability of the phenotypic expression of left ventricular hypertrophy (LVH) in patients with hypertrophic cardiomyopathy (HCM) indicates a potential role for additional modifying genes. Variants of angiotensin-I converting enzyme (ACE) gene have been implicated in cardiac hypertrophy. To assess whether ACE genotypes influence the phenotypic expression of hypertrophy, we determined the left ventricular mass index (LVMI) and extent of hypertrophy in 183 patients with HCM.
LVMI was derived by the area-length method using two-dimensional echocardiograms. Extent of LVH was determined by a point score method (1 to 10 points). DNA was extracted from blood, and ACE genotyping was performed by polymerase chain reaction (PCR) with an established protocol. Amplification of DNA in the region of polymorphism by PCR of alleles I and D showed 490- and 190-bp products, respectively. ACE genotypes DD, ID, and II were present in 60, 90, and 33 patients with HCM, respectively. In genetically independent patients (n = 108), the mean LVMI (g/m2) was 148 +/- 35.3 in those with DD (n = 35) and 134.2 +/- 33.3 in those with ID and II (n = 73) genotypes (P = .046). LVH score was 6.69 +/- 1.71 in patients with DD and 5.55 +/- 2.19 in those with ID and II genotypes (P = .004). Regression analysis showed that ACE genotypes accounted for 3.7% and 6.5% of the variability of LVMI and LVH score (P = .046 and P = .008, respectively). In 26 patients from a single family, LVMI and LVH score were also greater in patients with DD than in those with ID and II genotypes. ACE genotypes accounted for 14.7% and 10.4% of the variability of the LVMI and extent of hypertrophy, respectively.
ACE genotypes influence the phenotypic expression of hypertrophy in HCM.
肥厚型心肌病（HCM）患者左心室肥厚（LVH）的表型表达存在变异性，提示其他修饰基因可能发挥作用。血管紧张素转换酶（ACE）基因变异与心脏肥厚有关。为评估ACE基因型是否影响肥厚的表型表达，我们测定了183例HCM患者的左心室质量指数（LVMI）和肥厚程度。
使用二维超声心动图通过面积 - 长度法计算LVMI。LVH程度通过评分法（1至10分）确定。从血液中提取DNA，采用既定方案通过聚合酶链反应（PCR）进行ACE基因分型。通过等位基因I和D的PCR对多态性区域的DNA进行扩增，分别显示490和190bp的产物。HCM患者中ACE基因型DD、ID和II分别有60、90和33例。在基因独立的患者（n = 108）中，DD基因型（n = 35）患者的平均LVMI（g/m2）为148±35.3，ID和II基因型（n = 73）患者为134.2±33.3（P = 0.046）。DD基因型患者的LVH评分为6.69±1.71，ID和II基因型患者为5.55±2.19（P = 0.004）。回归分析显示，ACE基因型分别占LVMI和LVH评分变异性的3.7%和6.5%（P分别为0.046和0.008）。在来自单个家族的26例患者中，DD基因型患者的LVMI和LVH评分也高于ID和II基因型患者。ACE基因型分别占LVMI变异性和肥厚程度的14.7%和10.4%。
ACE基因型影响HCM中肥厚的表型表达。
