Abstract

Background: Sarcoidosis is a multisystemic chronic inflammatory disorder of unknown etiology with multifactorial genetic predisposition. An elevated ACE serum level is considered to be the activity marker of the disease. The involvement of the ACE I/D polymorphism in sarcoidosis susceptibility has been investigated in different populations, but results have been inconclusive. The purpose of this study was to evaluate the possible association of angiotensin-converting enzyme (ACE) gene insertion (I)/deletion (D) polymorphism with sarcoidosis in the Slovene population.
Material/Methods: In 105 sarcoidosis patients (69 female, 36 male, mean age: 41±1 years) and in 80 sex- and age-matched control subjects, genotyping for the ACE gene I/D polymorphism was performed by PCR and restriction enzyme digestion.
Results: An increased frequency of DD homozygotes vs. II homozygotes + ID heterozygotes was found in the group of sarcoidosis patients compared with the control group (OR: 2.19, 95%CI: 1.12–4.26, p=0.02). No differences in genotype frequencies were found in the group of sarcoidosis patients when considering the clinical course or presentation of the disease.
Conclusions: These results indicate that the ACE gene I/D polymorphism might be a risk factor for sarcoidosis susceptibility in the Slovene population and imply the possible role of population origin in the modulation of the influence of ACE gene variability in the pathophysiology of sarcoidosis.

Keywords: Genetic Predisposition to Disease, Peptidyl-Dipeptidase A - genetics, Polymorphism, Genetic, Sarcoidosis - genetics, Slovenia