Allele frequency of thiopurine methyltransferase and inosine triphosphate pyrophosphatase gene polymorphisms in korean patients with inflammatory bowel diseases

Joe Hee Cheon, Jae Hak Kim, Bo Young Kim, Seung Won Kim, Sung Yi Hong, Chang Soo Eun, Seong Soo Hong, Jeong Sik Byeon, Toe Il Kim, Dong Soo Han, Suk Kyun Yang, Kyoung Ryul Lee, Won Ho Kim

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Abstract

Background/Aims: Adverse reactions to thiop-urines may be predisposed by thiopurine methyltransferase (TPMT) or inosine triphosphate pyrophosphatase (ITPA) gene mutations. Methodology: We examined the frequencies of TPMT and ITPA gene polymorphisms in 812 Korean patients with inflammatory bowel diseases using denaturing high performance liquid chromatography and direct sequencing. Results: The allele frequencies of TPMT*2, TPMT*3A, TPMT*3B, and TPMT*3C were 0, 0, 0, and 0.010 (17/1624), respectively. For the ITPA polymorphism, 173 subjects were heterozygous and 5 were homozygous for the 94C>A missense mutation (allele frequency of A, 0.113). Moreover, the 87T>C, IVS2+21A>C, and IVS2+53C>T polymorphisms were found in one patient each (1/1624), respectively. Of these, 87T>C and IVS2+53C>T were novel single nucleotide polymorphisms of the ITPA gene whose clinical significance should be further evaluated. Conclusions: Our data describe TPMT and ITPA gene mutation patterns among Koreans and provide a basis for screening studies to identify patients at high risk for myelotoxicity from thiopurine drugs.

Original languageEnglish
Pages (from-to)421-423
Number of pages3
JournalHepato-gastroenterology
Volume56
Issue number90
Publication statusPublished - 2009 Mar 1

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All Science Journal Classification (ASJC) codes

  • Hepatology
  • Gastroenterology

Cite this

Cheon, J. H., Kim, J. H., Kim, B. Y., Kim, S. W., Hong, S. Y., Eun, C. S., Hong, S. S., Byeon, J. S., Kim, T. I., Han, D. S., Yang, S. K., Lee, K. R., & Kim, W. H. (2009). Allele frequency of thiopurine methyltransferase and inosine triphosphate pyrophosphatase gene polymorphisms in korean patients with inflammatory bowel diseases. Hepato-gastroenterology, 56(90), 421-423.