ANGIOTENSIN-CONVERTING ENZYME GENE POLYMORPHISM IN JAPANESE PATIENTS WITH HYPERTROPHIC CARDIOMYOPATHY

To examine the contribution of the angiotensin-converting enzyme (ACE) gene to hypertrophic cardiomyopathy (HCM), we determined the ACE inse rtion/deletion (I/D) polymorphism in 80 patients with HCM and 88 of th eir unaffected siblings and children. Patients were divided into famil iar or solitary HCM (FHCM or SHCM) groups with or without affected fam ily members. Genotypes were identified by the polymerase chain reactio n (PCR) with oligonucleotide primers flanking the polymorphic region i n intron 16 of the ACE gene to amplify template DNA prepared from peri pheral leukocytes. D-allele frequencies were 0.38 in all subjects, 0.4 2 in patients with HCM, and 0.35 in relatives (p < 0.05). The probabil ity ratios were 1.98, 1.46, and 2.97 in patients with HCM, FHCM, and S HCM, respectively. The D allele frequency was higher in SHCM than in F HCM (p < 0.05). The findings suggest that HCM, especially in solitary cases, is partially determined by genetic disposition. Findings imply that the ACE D allele is one of the genetic contributing factors assoc iated with cardiac hypertrophy in HCM.