Genetic variants of

Background: At least 500 genetic polymorphisms associated with the CYP2C19 and CYP2C18 enzymes have been identified, yet few polymorphisms have been measured in the Saudi population. Therefore, this study was aimed at determining the frequencies of numerous unmeasured Research design and methods: A multicenter cross-sectional study was conducted to determine the frequency of 141 CYP2C19 and CYP2C18 genetic variants. Blood samples from 374 Saudi adults were genotyped. GenomeStudio software was used for genotype calling for all samples. Bioinformatics analyses were performed for variant annotation. We excluded the rs4244285 variant since our main objective was to determine the frequency of numerous unmeasured or poorly documented CYP2C19 and CYP2C18 genetic variants in KSA. Including rs12769205 mitigated the haplotype analysis concern. Both rs4244285 and rs12769205 are CYP2C19∗2 key variations linked to loss of function. Results: Of the 141 variants associated with the CYP2C19 and CYP2C18 genes measured in 374 participants, 53 were detected, and the other 88 were not detected. Five detected variants had high frequencies: rs7067866, rs7916649, rs4917623, rs12248560, and rs11188072. Several detected variants were associated with clinical effects and appeared to influence drug metabolism. Conclusions: This study investigated the presence of many previously undescribed CYP2C19 and CYP2C18 genetic variants in the Middle Eastern population. Tens of previously unmeasured CYP2C19 and CYP2C18 variants were identified in the Saudi population. Our findings have potential to contribute to pharmacogenomics and personalized medicine, and to support clinical decision-making.