Genetic Variability of SNP rs7089580 in latin american populations and its impact on Warfarin dosage

Introduction: genetic variability in genes that encode drug metabolizing enzymes can influence the response to medications and the doses necessary for an adequate therapeutic effect. In the case of warfarin, a widely used anticoagulant, the enzyme CYP2C9 is responsible for metabolizing its active enantiomer, S-warfarin. Method: the frequencies of the T allele of the SNP rs7089580 were analyzed in Latin American populations using data from the 1000 Genomes Project. Tools such as VCFtools were used to determine the frequency of the T allele and the Hardy-Weinberg equilibrium (HW) and linkage disequilibrium (LD) between the SNP rs7089580 and the promoter SNP rs12251841 of the CYP2C9 gene were evaluated. Results: the frequencies of the T allele vary significantly between populations, with the Puerto Rican population presenting the highest frequency (17 %) and the Peruvian population the lowest (4 %). The results show that Latin American populations are in HW equilibrium, suggesting stability in genetic frequencies. Conclusions: the variability in the frequency of the T allele of the SNP rs7089580 in Latin American populations reflects the complex genetic mix of the region. The balance of HW and the strong linkage disequilibrium between the SNPs suggest that rs7089580 may be a useful marker to predict CYP2C9 expression and response to warfarin