Home Bratislava Medical Journal 2013 Bratislava Medical Journal Vol.114, No.6, p.330-332, 2013

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Published Monthly, in English
Founded: 1919
ISSN 0006-9248
(E)ISSN 1336-0345

Impact factor 1.2

 

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Bratislava Medical Journal Vol.114, No.6, p.330-332, 2013

Title: Prevalence of mutations in thiopurine S-methyltransferase gene among Slovak IBD patients
Author: B. Desatova, T. Hlavaty, D. Balakova, I. Pav, P. Celec, M. Gregus, M. Zakuciova, M. Hlista, M. Horakova, L. Kadasi, M. Huorka, M. Batovsky

Abstract:  Thiopurine S-methyltransferase (TPMT) plays an important role in the metabolism of thiopurines. It has been suggested that TPMT genetic polymorphisms lead to dose-related hematopoietic toxicity. Since there are major ethnic differences in the prevalence of particular TPMT variants, it is important for each country to study their own prevalence in order to estimate the role of TPMT variants-related thiopurines toxicity in population suffering from particular inflammatory bowel disease (IBD).
Aims: The aim of this study was to determine the frequency of the four most common allelic variants of TPMT gene in the population of Slovak IBD patients.
Methods: TPMT genetic polymorphisms (TPMT*2, TPMT*3A, TPMT*3B, TPMT*3C) were amplified using PCR and consequently genotyped with genetic analyzer. The allele frequencies of particular allelic variants were calculated and compared with other Caucasian populations reported so far.
Results: Three hundred and thirty IBD patients were included; 196/132/2 cases of Crohn´s disease/ulcerative colitis/unclassified colitis; 180 (55 %) males. Ninety-three percent of patients were homozygous for wild-type TPMT variant. Heterozygous genotype of any of the studied polymorphisms was present in 6 % of patients while only one patient was homozygous for TPMT*3A allele (0.3 %). The most prevalent mutant allele was that of TPMT*3A (3.2 %). The distribution of most common allelic variants of TPMT gene among Slovak IBD patients was in accordance with previously reported prevalence in Caucasian populations.
Conclusion: This study shows the prevalence of TPMT genetic polymorphisms in population of Slovak IBD patients. As in other Caucasian populations, the most common mutant allelic variant is that of TPMT*3A while the prevalence of homozygosity is relatively low (Tab. 3, Ref. 22).

Keywords: thiopurine S-methyltransferase, thiopurines toxicity, genetic polymorphisms.
Year: 2013, Volume: 114, Issue: 6 Page From: 330, Page To: 332
doi:10.4149/BLL_2013_069


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