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

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

Issue

Section

Original Article