Angiotensin-converting enzyme gene polymorphism and risk of sarcoidosis

Am J Respir Crit Care Med. 1998 Nov;158(5 Pt 1):1566-70. doi: 10.1164/ajrccm.158.5.9804123.

Abstract

The angiotensin-converting enzyme (ACE) has been implicated in the pathophysiology of sarcoidosis. Serum ACE levels in normal and sarcoidosis patients are influenced by an insertion (I)/deletion (D) polymorphism in the ACE gene. To elucidate the role of this ACE gene polymorphism in sarcoidosis, we conducted a case-control study in African Americans and Caucasians. The ACE gene (I/D) polymorphism did not differ between 60 Caucasian cases and 48 control subjects (p = 0.577). In contrast, a comparison of 183 African-American cases and 111 control subjects resulted in a marked difference in genotypic distributions (p = 0.005). In African Americans, the risk for sarcoidosis was 1.30 (95% confidence interval [CI] = 0.72 to 2. 36) for ID heterozygotes, and 3.17 (95% CI = 1.50 to 6.71) for deletion/deletion (DD) homozygotes. The risk associated with the DD homozygotes was even greater in African Americans when cases were restricted to those with a positive family history (odds ratio = 4. 83; 95% CI = 1.86 to 12.59). Further analyses of African-American cases showed that the ACE genotype was not associated with disease severity, extrathoracic involvement, or overall radiographic change 2 to 4 yr after diagnosis. We did find a moderate association between the II genotype and radiographic progression (OR = 2.97; 95% CI = 1.01 to 8.76). Our results suggest the ACE genotype may play a more important role in sarcoidosis susceptibility and progression in African Americans than Caucasians.

Publication types

  • Comparative Study
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Black People / genetics
  • Black or African American
  • Case-Control Studies
  • Confidence Intervals
  • Disease Progression
  • Female
  • Follow-Up Studies
  • Gene Deletion
  • Genetic Predisposition to Disease*
  • Genotype
  • Heterozygote
  • Homozygote
  • Humans
  • Male
  • Middle Aged
  • Odds Ratio
  • Peptidyl-Dipeptidase A / blood
  • Peptidyl-Dipeptidase A / genetics*
  • Polymorphism, Genetic / genetics*
  • Risk Factors
  • Sarcoidosis / blood
  • Sarcoidosis / classification
  • Sarcoidosis / genetics*
  • White People / genetics

Substances

  • Peptidyl-Dipeptidase A