title: Thiopurine S-Methyltransferase gene polymorphisms in a healthy Slovak population and pediatric patients with inflammatory bowel disease.
abstract: Thiopurine methyltransferase (TPMT) is a key component in thiopurine metabolism. There is an insufficient evidence about the distribution of the genotype frequencies of TPMT variants and frequencies of TPMT alleles associated with intermediate and deficient activity in a healthy Slovak population and pediatric patients with inflammatory bowel disease (IBD). TPMT variant alleles (*1,*2, *3A, *3B, and *3C) were determined in 114 children treated for IBD and in 281 healthy volunteers. Mutant alleles were present in 9/114 (7.89%) in the IBD patients and in 23/281 (8.19%) of probands. The distribution of the most frequent variants of TPMT gene was similar in a healthy population and patients with IBD.
authors.affiliation: Bone Marrow Transplantation Unit, Comenius University Children's Hospital, and Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia.
authors.forename: Alica
authors.initials: A
authors.lastname: Chocholova
authors.forename: Andrea
authors.initials: A
authors.lastname: Soltysova
authors.forename: Gabriel
authors.initials: G
authors.lastname: Minarik
authors.forename: Iveta
authors.initials: I
authors.lastname: Cierna
authors.forename: Sabina
authors.initials: S
authors.lastname: Sufliarska
authors.forename: Beata
authors.initials: B
authors.lastname: Mladosievicova
mesh_terms: D000293:Adolescent; D016022:Case-Control Studies; D002648:Child; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006262:Health; D064368:Healthy Volunteers; D006801:Humans; D015212:Inflammatory Bowel Diseases / Q000201:enzymology* / Q000235:genetics*; D008297:Male; D008780:Methyltransferases / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D018154:Slovakia; D055815:Young Adult
chemical_list: D008780:Methyltransferases; C022745:thiopurine methyltransferase