Insertion/Deletion Polymorphisms and Serum Angiotensin-converting Enzyme Levels in Iranian Patients with Sarcoidosis

• Main Authors: Alireza JAVADI, Masoud SHAMAEI, Masoud ZAREI, Lida REZAEIAN, Arda KIANI, Atefeh ABEDINI
• Format: Article
• Language: English
• Published: Tehran University of Medical Sciences 2016-11-01
• Series: Iranian Journal of Public Health
• Online Access: http://ijph.tums.ac.ir/index.php/ijph/article/view/8350

<p><strong>Background:</strong> Sarcoidosis is a multisystem inflammatory disease of unknown origin with characterization of small granulomas. Angiotensin-converting enzyme (ACE) is a pathophysiologic marker of sarcoidosis. We present the ACE insertion/deletion (I/D) polymorphism in correlation with serum ACE level in Iranian patients with sarcoidosis.</p><p><strong>Methods:</strong><strong> </strong>From Jan 2014 to Jan 2015, 102 Iranian patients who histopathologically diagnosed for sarcoidosis and 192 healthy age and sex-matched controls were recruited. PCR was used for detection of I/D polymorphism in ACE gene.</p><p><strong>Results:</strong><strong> </strong>Frequency of II/ID/DD genotype in sarcoidosis disease was 17%, 35.5%, and 47.1%, respectively. The frequency of D allele was 0.65. A significant association between I/D genotypes and mean of sACE level was seen (DD=85.2±22.9, <em>P</em>&lt;0.001). More frequent genotype in sarcoidosis patients was DD (47%), ID genotype (45.9%) was found more in controls. Logistic regression analysis adjusting age and sex showed that ID to II (OR=0.35, 95%CI=0.17-0.73, <em>P</em>=0.005) and DD to II (OR=2.11, 95%CI=0.98-4.54, <em>P</em>=0.05) could be considered as a predictor factor for the disease activity. No significant model for men in sarcoidosis group was seen, while women with II/ID were associated with a reduced risk for the disease.</p><p><strong>Conclusion:</strong><strong> </strong>Although more regional studies with appropriate statistical scale must be done to provide a better diagnosis and prognostic tool for this disease, this study demonstrates that ID and DD genotype could be predictive factors for sarcoidosis.</p><p><strong> </strong></p><p><strong>Keywords:</strong> Sarcoidosis, ACE gene polymorphism, Angiotensin converting enzyme</p>