Abstract

VKORC1 GENE POLYMORPHISM STUDY USING PCR-RFLP OF C.1639G>A LOCUS IN RURAL MAHARASHTRA POPULATION

Sajja Suguna*, Nandal D.H
, Kiran Kumar Vattam, G.D. Patil, Rahul Kunkulol

ABSTRACT

Introduction: The dose requirements for oral anticoagulants in thromboembolic events are influenced by promoter polymorphism in the VKORC1 gene. However, limited data are available on the influence of the polymorphism in various Indian populations. Objectives: The present study aimed to detect the VKORC1 polymorphism & its genotype distribution in study population. Materials and Methods: Fifty healthy subjects from the west rural Maharashtra region were genotyped for VKORC1-1639 G>A by polymerase chain reaction and restriction fragment length polymorphism. Results: The VKORC1 - 1639G>A allele frequency in the study population (n = 50) was observed. GA, GG, AA were found in range of 12 %, 6%, 82%. These findings are in concurrence with the effect of the polymorphism present at promoter region on vitamin K epoxide reductase activity. Conclusion: This VKORC1-1639 G>A status can be indicative of establishing the therapeutic dose of oral anticoagulants in west rural Maharashtra population in India. The subjects with a wild type genotype required the maximum drug dose as suggested for full functionality of the enzyme. Heterozygous group were found to have an intermediate drug dose and the patients with a variant homozygous genotype had the minimum maintenance drug dose requirement

Keywords: Allele frequency, drug dose, genotype, polymorphism, VKORC1.