Investigation of CYP2C19 allele and genotype frequencies in Iranian population using experimental and computational approaches

CytochromeP4502C19 is a genetically polymorphic gene with prominent role in drug metabolism. Regarding its critical medical importance, this study was conducted to achieve accurate CYP2C19allele frequencies in Iranian population and hereby paving the way for a tailor-made CYP2C19 DNA test. Iran is a large multi-ethnic country, however, its population structure for CYP2C19 alleles is calculated as nearly zero (Fwc (st) = 0.001). The Study was conducted on 691 individuals in Tehran, the conurbation in which total population structure is significantly eroded by massive immigration and DNA was analyzed by TaqMan SNP genotyping assay. A cumulative meta-analysis was then conducted to achieve less than five percent variation range in allele frequencies with 99.9% confidence level. High degree of Hardy-Weinberg equilibrium in pooled data proved the authenticity of meta-analysis. By cumulative meta-analysis the average frequencies of CYP2C19*2 and CYP2C19*3 alleles were calculated as 0.125[99.9% CI, 0.112-0.139] and 0.006[99.9% CI, 0.004-0.009], respectively. According to the solid frequency data obtained by pooling the data and meta-analysis and comparing with other ethnicities, Iranian population's CYP2C19 allele frequencies completely differ from other Asian ethnicities and matches African and European ethnicities the most. Since this is the biggest CYP2C19 allele frequency study in the Middle East, the results of this study will also be useful in cross-population and regional CYP2C19 genetic variation studies.