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: Alica Chocholova, Andrea Soltysova, Gabriel Minarik, Iveta Cierna, Sabina Sufliarska, Beata Mladosievicova
• Journal: Nucleosides, nucleotides & nucleic acids (Nucleosides Nucleotides Nucleic Acids) Vol. 32 Issue 5 Pg. 239-46 ( 2013) ISSN: 1532-2335 [Electronic] United States
• PMID: 23581716 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Methyltransferases
• thiopurine methyltransferase

Topics

• Adolescent
• Case-Control Studies
• Child
• Female
• Gene Frequency
• Genotype
• Health
• Healthy Volunteers
• Humans
• Inflammatory Bowel Diseases (enzymology, genetics)
• Male
• Methyltransferases (genetics)
• Polymorphism, Single Nucleotide
• Slovakia
• Young Adult