title: Polymorphisms of the TPMT gene in the Czech healthy population and patients with inflammatory bowel disease.
abstract: Genetic variation in thiopurine S-methyltransferase (TPMT) is a major factors for wide variation in the metabolism and safety of thiopurine drugs. We investigated the frequency of functional gene polymorphisms in 396 patients with inflammatory bowel disease and 300 healthy subjects. Frequencies of functionally deficient alleles TPMT*2, TPMT*3A, TPMT*3B, and TPMT*3B in the patient group were 0.1%, 4.3%, 0.1%, and 0.4%, respectively, and were similar to those of healthy subjects in the Czech population. Our results provide necessary information for pharmacoeconomic studies in the Czech Republic.
authors.affiliation: Clinical Pharmacology Unit, Department of Pharmacology, First Faculty of Medicine Charles University, General Teaching Hospital, Prague, Czech Republic. oslan@lf1.cuni.cz
authors.forename: Ondrej
authors.initials: O
authors.lastname: Slanar
authors.forename: Martin
authors.initials: M
authors.lastname: Bortlík
authors.forename: Helena
authors.initials: H
authors.lastname: Buzková
authors.forename: Robert
authors.initials: R
authors.lastname: Donoval
authors.forename: Kristina
authors.initials: K
authors.lastname: Pechandová
authors.forename: Ivan
authors.initials: I
authors.lastname: Sebesta
authors.forename: Milan
authors.initials: M
authors.lastname: Lukás
authors.forename: Frantisek
authors.initials: F
authors.lastname: Perlík
mesh_terms: D001379:Azathioprine / Q000627:therapeutic use; D016022:Case-Control Studies; D018153:Czech Republic; D005787:Gene Frequency; D005838:Genotype; D006262:Health; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000188:drug therapy / Q000201:enzymology* / Q000235:genetics*; D008780:Methyltransferases / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: D008780:Methyltransferases; C022745:thiopurine methyltransferase; D001379:Azathioprine