title: Angiotensin-converting enzyme DD genotype and cardiovascular disease in heterozygous familial hypercholesterolemia.
abstract: BACKGROUND
  Controversy exists as to whether the deletion/deletion genotype (DD) of the ACE gene polymorphism increases the risk of myocardial infarction (MI). Studies have suggested that the ACE DD genotype is associated with increased plaque instability. We hypothesized that the ACE DD genotype may increase the risk of myocardial infarction and coronary heart disease (CHD) in patients with heterozygous familial hypercholesterolemia (FH) or familial defective apolipoprotein B-100 (FDB) who, as a group, are at high risk of having lipid-rich plaques in their coronary arteries.
  
  
  RESULTS
  We determined the ACE genotypes and incidence of MI or surgical intervention for CHD in 213 adult patients with heterozygous FH or FDB. The incidence of MI in 35 male patients who carried the ACE DD genotype was 2.5 times that observed in male patients with the II or DI genotypes, and the incidence of CHD in male patients with the DD genotype was 2.2 times higher than in those who had ACE DI+II. The potential effects of ACE genotype on CHD could not be directly compared in female patients because of a disparity in the smoking history of the genotypic groups. From logistic regression analysis, the estimated odds ratio associated with the ACE DD genotype was 2.57 for MI and 2.21 for CHD adjusted for age, sex, and smoking history.
  
  
  CONCLUSIONS
  The ACE DD genotype is associated with an increased risk of MI and CHD in patients with heterozygous FH or FDB. Determination of the ACE genotype in asymptomatic FH and FDB patients provides an additional means to identify those patients at greatest risk for the premature development of CHD.
authors.affiliation: Department of Medicine, Oregon Health Sciences University, Portland 97201-3098, USA.
authors.forename: J P
authors.initials: JP
authors.lastname: O'Malley
authors.forename: C L
authors.initials: CL
authors.lastname: Maslen
authors.forename: D R
authors.initials: DR
authors.lastname: Illingworth
mesh_terms: D000328:Adult; D000368:Aged; D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000172:deficiency* / Q000235:genetics; D001057:Apolipoproteins E / Q000235:genetics; D015331:Cohort Studies; D003327:Coronary Disease / Q000453:epidemiology* / Q000235:genetics / Q000601:surgery; D004198:Disease Susceptibility; D005260:Female; D005838:Genotype; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D006973:Hypertension / Q000453:epidemiology* / Q000235:genetics; D015994:Incidence; D016015:Logistic Models; D008297:Male; D008875:Middle Aged; D009203:Myocardial Infarction / Q000453:epidemiology* / Q000235:genetics; D016017:Odds Ratio; D009922:Oregon / Q000453:epidemiology; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D011110:Polymorphism, Genetic; D012306:Risk; D012307:Risk Factors
chemical_list: D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D001057:Apolipoproteins E; D007703:Peptidyl-Dipeptidase A