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

 Cheon JH  ;  Kim JH  ;  Kim BY  ;  Kim SW  ;  Hong SY  ;  Eun CS  ;  Hong SS  ;  Byeon JS  ;  Kim TI  ;  Han DS  ;  Yang SK  ;  Lee KR  ;  Kim WH 
 HEPATO-GASTROENTEROLOGY, Vol.56(90) : 421-423, 2009 
Journal Title
Issue Date
Alleles ; Asian Continental Ancestry Group/genetics ; Azathioprine/adverse effects ; Chromatography, High Pressure Liquid ; Female ; Gene Frequency ; Humans ; Immunosuppressive Agents/adverse effects ; Inflammatory Bowel Diseases/drug therapy ; Inflammatory Bowel Diseases/enzymology* ; Inflammatory Bowel Diseases/genetics* ; Male ; Mercaptopurine/adverse effects ; Methyltransferases/genetics* ; Mutation, Missense ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide* ; Pyrophosphatases/genetics*
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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1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Others (기타) > 1. Journal Papers
Yonsei Authors
Kim, Seung Won(김승원) ORCID logo https://orcid.org/0000-0002-1692-1192
Kim, Won Ho(김원호) ORCID logo https://orcid.org/0000-0002-5682-9972
Kim, Tae Il(김태일) ORCID logo https://orcid.org/0000-0003-4807-890X
Cheon, Jae Hee(천재희) ORCID logo https://orcid.org/0000-0002-2282-8904
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