Study of association of ACE gene I/D polymorphism with the risk of pulmonary sarcoidosis (with the participation of the Republic of Karelia residents)

Abstract

The aim of the study was to analyze the association of I/D polymorphism of angiotensin-converting enzyme (ACE) gene with the risk of pulmonary sarcoidosis in ethnic Russians of the Republic of Karelia. Methods. The study enrolled 242 individuals, including 112 patients of Russian nationality residing in the Republic of Karelia with confirmed pulmonary sarcoidosis and 130 healthy donors as a control group. The distribution of alleles and genotypes of I/D polymorphism of ACE gene (rs4646994) in these groups was investigated. Alleles of this polymorphic marker were identified by the method of PCR-RFLP. Results. The comparative analysis showed no statistically significant differences in the distribution of alleles and genotypes of indel locus of ACE gene (rs4646994) between the control group and the group of patients with pulmonary sarcoidosis (χ2 = 0.619; p > 0.05; χ2 = 0.368; p > 0.05, respectively). Conclusion. I/D polymorphism of ACE gene is not associated with the risk of pulmonary sarcoidosis in ethnic Russians of the Republic of Karelia