Tabriz University of Medical Sciences Journal of Cardiovascular and Thoracic Research 2008-5117 15 3 2023 09 23 Polymorphism of rs599839 in the PSRC1 gene is associated with coronary artery disease in an Iranian population 168 173 10.34172/jcvtr.2023.31742 EN Golnaz Houshmand https://orcid.org/0000-0001-5026-5101 Mohammad Javad Alemzadeh-Ansari https://orcid.org/0000-0003-4698-3244 Saeideh Mazloumzadeh https://orcid.org/0000-0001-6325-0662 Niloofar Naderi Maryam Pourirahim Katayoun Heshmatzad Majid Maleki Samira Kalayinia https://orcid.org/0000-0002-3499-044X Journal Article 10.34172/jcvtr.2023.31742 2023 02 13 2023 07 29 Introduction: Coronary artery disease (CAD) is the leading health complication worldwide because of its high prevalence and mortality. The association between CAD susceptibility and the rs599839 (C/T) polymorphism in the human proline and serine-rich coiled-coil (PSRC1) was reported in a genome-wide association study. To validate this association, we performed this case-control study to genotype the 1p13.3 (rs599839) locus in a sample of the Iranian population with CAD (stenosis≥70% in≥1 coronary artery). Methods: We performed an association analysis with PCR and Sanger sequencing of rs599839 (C/T) polymorphism and CAD risk in 280 CAD patients and 287 healthy controls defined as a coronary calcium score of zero and no noncalcified plaques in coronary computed tomography angiography. SPSS, version 16.0, was applied for statistical analysis. Results: The rs599839 (C/T) locus showed a significant association with CAD (P value<0.001). TT and CT genotypes were associated with CAD (P value<0.001). Furthermore, the dominant status (TT+CT vs. CC) was associated with an increased risk of CAD (OR, 9.14; 95% CI, 3.77 to 22.15; and P value<0.001). Conclusion: The study findings indicate strong evidence for rs599839 (C/T) association with CAD risk.