title: Frequency of common CYP3A5 gene variants in healthy Polish newborn infants.
abstract: Cytochrome P450 monooxygenases catalyze the metabolism of approximately 40-60% of widely used drugs with a A6986G CYP3A5 polymorphism determining expresser (A6986, *1) and reduced- expresser (*3) variants with modified drug metabolism activity. In this report, the allele frequency of CYP3A5 *1 and *3 (A6986 or G6986, respectively) was analyzed by the PCR-RFLP technique in a cohort of 200 Polish newborns from the West Pomeranian region. Of the studied group, 1% (n = 2/200) proved homozygous for the CYP3A5*1 allele, 89% (n = 178/200) for the *3 allele, and 10% (n = 20/200) were heterozygous for *1/*3. Similar frequencies were found in other Caucasian European populations. This study provides basic genetic data related to the metabolism of drugs, with a narrow therapeutic window in a Polish population.
authors.affiliation: Department of Laboratory Diagnostics and Molecular Medicine, Pomeranian Medical University, Powstańców Wlkp. 72, PL 70-111 Szczecin, Poland. gra2@op.pl
authors.forename: Grazyna
authors.initials: G
authors.lastname: Adler
authors.forename: Beata
authors.initials: B
authors.lastname: Łoniewska
authors.forename: Miłosz
authors.initials: M
authors.lastname: Parczewski
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Kordek
authors.forename: Andrzej
authors.initials: A
authors.lastname: Ciechanowicz
mesh_terms: D000483:Alleles; D051544:Cytochrome P-450 CYP3A / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011044:Poland; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics
chemical_list: C510164:CYP3A5 protein, human; D051544:Cytochrome P-450 CYP3A