Allele Frequency of Thiopurine Methyltransferase and Inosine Triphosphate Pyrophosphatase Gene Polymorphisms in Korean Patients with Inflammatory Bowel Diseases
- Authors
- Cheon, Jae Hee; Kam, Jae Hak; Kim, Bo Young; Kim, Seung Won; Hong, Sung Yi; Eun, Chang Soo; Hong, Seong Soo; Byeon, Jeong-Sik; Kim, Tae Il; Han, Dong Soo; Yang, Suk-Kyun; Lee, Kyoung Ryul; Kim, Won Ho
- Issue Date
- Mar-2009
- Publisher
- H G E UPDATE MEDICAL PUBLISHING S A
- Keywords
- Thiopurine Methyltransferase; Inosine Triphosphate Pyrophosphatase; Genetic Polymorphism; Inflammatory Bowel Disease; Korean
- Citation
- HEPATO-GASTROENTEROLOGY, v.56, no.90, pp.421 - 423
- Indexed
- SCIE
SCOPUS
- Journal Title
- HEPATO-GASTROENTEROLOGY
- Volume
- 56
- Number
- 90
- Start Page
- 421
- End Page
- 423
- URI
- https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/177126
- ISSN
- 0172-6390
- Abstract
- Background/aims
Adverse reactions to thiopurines 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.
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