Pharmacogenetic typing for oral anti-coagulant response among factor V Leiden mutation carriers.
Indian J Hum Genet
;
2012 Sept; 18(3): 326-331
Article
in English
| IMSEAR
| ID: sea-145855
ABSTRACT
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 andDesign:
A retrospective study carried out in a tertiary health care center in India. Materials andMethods:
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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Type of study:
Observational study
/
Prognostic study
/
Risk factors
Language:
English
Journal:
Indian J Hum Genet
Year:
2012
Type:
Article
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