Association of promoter region A-1012G polymorphism (rs4516035) of vitamin-D receptor gene with coronary artery disease Authors Shazia Nazar Department of Physiology, Dow University of Health Sciences, Karachi, Pakistan Taseer Ahmed Khan Department of Physiology, Karachi University, Karachi, Pakistan Sitwat Zehra Dr. A.Q. Khan Institute of Biotechnology and Genetic Engineering, Karachi University, Karachi, Pakistan DOI: https://doi.org/10.47391/JPMA.3588 Abstract Objective: To investigate the correlation of Adenine-1012-Guanine (rs4516035) promoter region polymorphism of vitamin-D receptor gene with serum levels of omentin-1, vitamin-D and vitamin-D receptor protein in patients with coronary artery disease. Method: The case-control study was conducted January to June 2020 at the cardiac unit of Civil hospital Karachi (CHK), and comprised coronary artery disease patients and controls. The tetra-primer amplification refractory mutation system polymerase chain reaction method was used to genotype Adenine-1210Guanine polymorphism in the vitamin D receptor gene. Serum levels of omentin-1, vitamin-D, and vitamin-D receptor protein were measured in both the groups using an enzyme-linked immunosorbent assay. Data was analysed using SPSS 17. Results: Of the 1,000 subjects, there were 500(50%) cases; males 306(61.2%) and 194(38.8%) females with overall mean age of 51.08±9.55 years. The remaining 500(50%) were controls; 290(58%) males and 210(42%) females with overall mean age of 50.9±10.78 years. The mutant Guanine allele was more prevalent in controls 261(52.2%), and had a non-significant correlation with coronary artery disease (p=0.45). Among the cases, the wild Adenine-Adenine genotype had a higher prevalence 402(80.4%) and had a significant correlation with coronary artery disease (p<0.001). The heterozygous genotype Adenine-Guanine was significantly more predominant among the controls 346(69.2%) compared to the cases 66(13.2) (p=0.002). Conclusion: Adenine-1012-Guanine polymorphism in the vitamin-D receptor gene was found to be a protective polymorphism for coronary artery disease in the recessive model. Key Words: Coronary artery disease, Omentin-1, Vitamin-D, Vitamin-D receptor. Author Biography Taseer Ahmed Khan, Department of Physiology, Karachi University, Karachi, Pakistan ASSOCIATE PROFESSOR, PHYSIOLOGY Downloads Full Text Article Published 2022-01-28 How to Cite Nazar, S., Ahmed Khan, T. ., & Sitwat Zehra. (2022). Association of promoter region A-1012G polymorphism (rs4516035) of vitamin-D receptor gene with coronary artery disease. Journal of the Pakistan Medical Association, 72(6), 1137–1141. https://doi.org/10.47391/JPMA.3588 More Citation Formats ACM ACS APA ABNT Chicago Harvard IEEE MLA Turabian Vancouver Download Citation Endnote/Zotero/Mendeley (RIS) BibTeX Issue Vol. 72 No. 6 (2022): June Section Original Article