VKORC1 gene polymorphism (-1639G>A) in warfarin therapy patients of Pakistani population Authors Muhammad Bilal Ghafoor Department of Haematology, University of Health Sciences, Lahore, Pakistan Faiza Yasmeen Department of Haematology, University of Health Sciences, Lahore, Pakistan Abdul Wadood Khalid Department of Pathology, Punjab Institute of Cardiology (PIC), Lahore, Pakistan Ghulam Mustafa Department of Haematology, University of Health Sciences, Lahore, Pakistan Shagufta Khaliq Department of Human Genetics and Molecular Biology, University of Health Sciences, Lahore Pakistan Shahida Mohsin Department of Haematology, University of Health Sciences, Lahore, Pakistan DOI: https://doi.org/10.47391/JPMA.01042 Abstract Objective: To observe vitamin K epoxide reductase complex subunit 1-1639 G>A polymorphism in patients resistant to warfarin therapy, and to calculate the allele frequency of the polymorphism in local patients. Method: The cross-sectional case-control study was conducted at the Punjab Institute of Cardiology, Lahore, from 2013 to 2014, and comprised patients with heart valve replacement. Thy were divided into warfarin-resistant group 1 taking 10mg/day, 70mg/week, and control group 2 taking a standard dose of 5mg/day, 35mg/week. The vitamin K epoxide reductase complex subunit 1-1639 G>A polymorphism analysis was done by polymerase chain reaction, followed by restriction fragment length polymorphism technique. Data was analysed using SPSS 20. Results: Of the 146 patients, there were 73(50%) in each of the two groups. In group 1, there were 37(50.68%) males and 36(49.32%) were females with an overall mean age of 33±12 years, while group 2 had 36(49.32%) males and 37(50.68%) females with an overall mean age of 37±13 years. There were no significant differences in mean values of age, serum cholesterol, triglycerides and albumin levels between the groups (p>0.05). The G allele was the most frequently found in both groups, with 140(96%) in group-1 and 137(94%) in group-2. Overall, the homozygous GG genotype was significantly higher in the sample 132(90.4%) (p<0.05). Conclusions: There was evidence found that vitamin K epoxide reductase complex subunit 1-1639 G>A polymorphism alone may not be the dominant genetic factor associated with warfarin response variability. Key Words: Warfarin, VKORC1 gene, Single nucleotide polymorphism, PCR-RFLP. Published 2022-02-03 How to Cite Muhammad Bilal Ghafoor, Faiza Yasmeen, Abdul Wadood Khalid, Ghulam Mustafa, Shagufta Khaliq, & Shahida Mohsin. (2022). VKORC1 gene polymorphism (-1639G>A) in warfarin therapy patients of Pakistani population. Journal of the Pakistan Medical Association, 72(3). https://doi.org/10.47391/JPMA.01042 More Citation Formats ACM ACS APA ABNT Chicago Harvard IEEE MLA Turabian Vancouver Download Citation Endnote/Zotero/Mendeley (RIS) BibTeX Issue Vol. 72 No. 3 (2022): MARCH Section RESEARCH ARTICLE