Indian Journal of Human Genetics
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ORIGINAL ARTICLE
Year : 2012  |  Volume : 18  |  Issue : 3  |  Page : 326-331

Pharmacogenetic typing for oral anti-coagulant response among factor V Leiden mutation carriers


1 Centre of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi; Amity Institute of Biotechnology, Amity University, Uttar Pradesh, India
2 Centre of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India
3 Amity Institute of Biotechnology, Amity University, Uttar Pradesh, India

Correspondence Address:
Ishwar C Verma
Director, Center of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar - 110 060, New Delhi
India
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Source of Support: The research fund for the above work was granted by Sir Ganga Ram Hospital, New Delhi, India, Conflict of Interest: None


DOI: 10.4103/0971-6866.107987

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Context: Factor V Leiden mutation is the most common inherited predisposition for hypercoagulability and thereby a common genetic cause for initiation of oral anti-coagulation therapy. There is a dearth of knowledge of coumarin response profile in such thrombophilic population. Aims: The current pilot study aims to estimate coumarin sensitivity in an Indian cohort with an inherited thrombophilia risk factor (Factor V Leiden mutation carriers) based on the observed frequency of CYP2C9 *2, *3 and VKORC1-1639G >A genotype combinations. Settings and Design: A retrospective study carried out in a tertiary health care center in India. Materials and Methods: Carriers of FVL mutation were genotyped for CYP2C9 (*2, *3) and VKORC1 (-1639G >A) variants by PCR-RFLP technique. Statistical Analysis Used: Chi-square test to analyze difference in expected and observed genotype frequency. Results: Sixty-one (n = 61) unrelated carriers of FVL mutation were observed in the 13 years study period. The allele frequency of CYP2C9 *2, CYP2C9 *3, and VKORC1-1639A in this cohort was 0.06, 0.11, and 0.16, respectively. Six (9.7%) individuals had two of the three variant alleles (heterozygous or homozygous), and 28 (45.9%) were heterozygous for at least one polymorphism. Conclusions: Pre-prescription genotyping for coumarin drugs, if introduced in Indians with inherited thrombophilia (in whom oral anti-coagulant therapy may be necessary), is likely to identify 9.7% (hypersensitive) subjects in whom the optimum anti-coagulation may be achieved with reduced dosages, 44.3% (normal sensitivity) who may require higher dose and also 55.6% (hyper and moderate sensitivity) subjects who are likely to experience bleeding episodes.


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