title: Allele and genotype frequencies of CYP2C9 within an Iranian population (Mazandaran).
abstract: Cytochrome P450 2C9 (CYP2C9) is a polymorphic enzyme responsible for the metabolism of different drugs, some with low therapeutic index. The frequency of functionally important mutations and alleles of the gene coding for CYP2C9 shows wide ethnic variations. The present study aimed to determine the prevalence of the most common allelic variants of the CYP2C9 enzyme and to predict the genotype frequency in the Mazandarani ethnic group among the Iranian population. Genotyping of CYP2C9 allelic variants was carried out in 103 unrelated subjects by polymerase chain reaction and restriction fragment length pattern analysis. The frequencies for CYP2C9 alleles *1, *2, and *3 were 78%, 12%, and 10%, respectively. No subjects were found carrying the CYP2C19*11 allele. The frequencies of CYP2C9 genotypes *1/*1, *1/*2, *1/*3, *2/*2, *2/*3, and *3/*3 were 61%, 19%, 16%, 1.5%, 2.5%, and 0.0%, respectively. The result of the present study showed that the two inactive alleles of CYP2C9 accounted for 22% of CYP2C9 alleles in our sample versus 1.5%-29% reported in other populations. The frequencies of the studied alleles resulted in significant differences between our sample and African and Eastern Asian populations.
authors.affiliation: Molecular and Cell Biology Research Centre, Faculty of Medicine, Mazandaran University of Medical Sciences, Sari, Iran.
authors.forename: Seyed Mohammad Bagher
authors.initials: SM
authors.lastname: Hashemi-Soteh
authors.forename: Naghi
authors.initials: N
authors.lastname: Shahabi-Majd
authors.forename: Ali-Reza
authors.initials: AR
authors.lastname: Gholizadeh
authors.forename: Mohammad-Reza
authors.initials: MR
authors.lastname: Shiran
mesh_terms: D000483:Alleles; D001189:Aryl Hydrocarbon Hydroxylases / Q000235:genetics*; D065729:Cytochrome P-450 CYP2C9; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007492:Iran / Q000208:ethnology; D008297:Male; D012150:Polymorphism, Restriction Fragment Length
chemical_list: C450260:CYP2C9 protein, human; D065729:Cytochrome P-450 CYP2C9; D001189:Aryl Hydrocarbon Hydroxylases