Study on genetic polymorphisms and phenotypic frequency distribution of CYP2C9, CYP2C19 and CYP2D6 in Han Chinese population

Abstract

Purpose Genetic mutations and phenotypic changes of CYP2C9, CYP2C19 and CYP2D6 are vital for individual variations in clinical drug responses. Elucidating the mutating frequencies and phenotypic distributions of these genes shall facilitate the implementation of preemptive pharmacogenetic testing. We analyzed the gene polymorphisms and phenotypic frequencies of CYP2C9, CYP2C19 and CYP2D6 in Han Chinese population. Methods Tests of CYP2C9, CYP2C19 and CYP2D6 were performed in over 3200 (3276-3293) samples in Han Chinese population; furthermore, systematic review was employed for analyzing the mutation frequency and phenotypic distribution of CYP2C9 and CYP2C19 in Han Chinese population. Results Among 9062 samples, the mutation frequency of CYP2C9 was 11.49% and the frequency of phenotypic changes 7.1%; in 8222 samples, the mutation frequency of CYP2C19 was 66.07% and the frequency of phenotypic changes 63.75%; among 3931 samples, the mutation frequency of CYP2D6 was 88.04% and the frequency of phenotypic changes 3.87%. Among 2690 samples, gene mutations and phenotypic distributions of CYP2C9, CYP2C19 and CYP2D6 were simultaneously examined and it was found that 96.36% samples became mutated and the frequency of phenotypic changes was 66.51%. Conclusions In Han Chinese population, the gene mutations and phenotypic changes of CYP2C9, CYP2C19 and CYP2D6 are all relatively frequent. Prior to dosing, preemptive pharmacogenetic testing of CYP2C9, CYP2C19 and CYP2D6 is recommended.