After Institutional Review Board approval and written informed consent, 144 participants were recruited. Whole blood was collected and DNA was extracted by Phenol chloroform method, followed by Polymerase Chain Reaction and Restriction Fragment Length Polymorphism using standard protocols.
This study was conducted to assess the frequencies of alleles of CYP2C19 (namely *1, *2 and *3) in normal, unrelated, healthy participants from Western India.
The frequencies of CYP2C19*1 and *2 alleles in Western Indian population were found to be 63.8% (95% CI, 0.557, 0.713) and 36.1% (95% CI, 0.308, 0.418) respectively. None of the participants studied showed the presence of CYP2C19*3 allele. The distribution of CYP2C19*1/*1, *1/*2 and *2/*2 genotypes was found to be 39.5% (95% CI, 0.319, 0.477), 48.6% (95% CI, 0.405, 0.567) and 11.8% (95% CI 0.063, 0.206) respectively. The observed CYP2C19 genotype frequencies were consistent with the Hardy–Weinberg equilibrium.
The *2 allele was the most frequently identified mutant allele in the Western Indian population. The frequency is similar to that of South Indian population except that CYP2C19*1/*3 genotype was identified in 2.7% of this group. Our frequencies are different from Caucasians (frequencies of *1, *2 and *3 alleles have been found to be 86%, 14% and 0% respectively) and Africans (frequencies of *1, *2 and *3 alleles have been found to be 81.4%, 17.9% and 0% respectively). The implications of these results are particularly important for the effect and toxicities of drugs, notably the anti-platelet agent clopidogrel.