ACE(Angiotensin Converting Enzyme) Gene Polymorphism in Hypertrophic Cadiomyopathy

Choi, Jin Ho; Kim, Hyo Soo; Lee, Sang Chol; Choi, Hyun Seok; Choe, Seong Choon; Oh, Byung Hee; Lee, Myoung Mook; Park, Young Bae; Choi, Yun Shik; Seo, Jung Don

Abstract

BACKGROUND
In hypertrophic cardiomyopathy(HCM), which is known as genetic disease, severity and location of left ventricular hypertrophy(LVH) is variable. So we investigated additional modify role of angintensin-I converting enzyme(ACE) gene, which is known to be implicated in cardiac hypertrophy. ACE genotypes and degree of hypertrophy were determined in each subject. METHOD: 172 patients(37 HCM, 26 normotenisve LVH, 19 hypertenisve LVH, 79 normal control) were included in this study. Left ventricular mass index(LVMI) was calculated from electrocardiogram by Rautaharju equation, and LVH was defined as LVMI is above 131g/m2 in male or above 110g/m2 in female. In HCM group, extent of left ventricular hypertrophy was also assessed by Wigle's method. DNA was extracted from peripheral blood and ACE I/D polymorphism was confirmed by PCR method.
RESULTS
Frequency of D/D genotype is significantly higher in normotensive LVH group(0.231) and in HCM group(0.243) than normal control group(0.076)(Fisher's exact test, p<0.05). There was no significant difference in genotype frequency between other groups. The mean LVMI(g/m2) and Wigle's LVH score was significantly higher in DD than II and ID(259.8+/-156.4g/m2 vs 176.6+/-56.2g/m2, p<0.05, t-test, 7.82+/-2.4 vs 5.35+/-1.9, p<0.05, Mann-Whitney test). LVMI and LVH score also exhibited increasing tendency toward II, ID DD genotypes.
CONCLUSION
D allele of ACE gene contribute to the development of cardiac hypertrophy in HCM as well as normotensive LVH.