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

DC Field Value Language
dc.contributor.author천재희-
dc.contributor.author김원호-
dc.contributor.author김태일-
dc.contributor.author김승원-
dc.date.accessioned2015-04-24T17:07:51Z-
dc.date.available2015-04-24T17:07:51Z-
dc.date.issued2009-
dc.identifier.issn0172-6390-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/104818-
dc.description.abstractBACKGROUND/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.-
dc.description.statementOfResponsibilityopen-
dc.relation.isPartOfHEPATO-GASTROENTEROLOGY-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/2.0/kr/-
dc.subject.MESHAlleles-
dc.subject.MESHAsian Continental Ancestry Group/genetics-
dc.subject.MESHAzathioprine/adverse effects-
dc.subject.MESHChromatography, High Pressure Liquid-
dc.subject.MESHFemale-
dc.subject.MESHGene Frequency-
dc.subject.MESHHumans-
dc.subject.MESHImmunosuppressive Agents/adverse effects-
dc.subject.MESHInflammatory Bowel Diseases/drug therapy-
dc.subject.MESHInflammatory Bowel Diseases/enzymology*-
dc.subject.MESHInflammatory Bowel Diseases/genetics*-
dc.subject.MESHMale-
dc.subject.MESHMercaptopurine/adverse effects-
dc.subject.MESHMethyltransferases/genetics*-
dc.subject.MESHMutation, Missense-
dc.subject.MESHPolymerase Chain Reaction-
dc.subject.MESHPolymorphism, Single Nucleotide*-
dc.subject.MESHPyrophosphatases/genetics*-
dc.titleAllele frequency of thiopurine methyltransferase and inosine triphosphate pyrophosphatase gene polymorphisms in Korean patients with inflammatory bowel diseases-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Internal Medicine (내과학)-
dc.contributor.googleauthorCheon JH-
dc.contributor.googleauthorKim JH-
dc.contributor.googleauthorKim BY-
dc.contributor.googleauthorKim SW-
dc.contributor.googleauthorHong SY-
dc.contributor.googleauthorEun CS-
dc.contributor.googleauthorHong SS-
dc.contributor.googleauthorByeon JS-
dc.contributor.googleauthorKim TI-
dc.contributor.googleauthorHan DS-
dc.contributor.googleauthorYang SK-
dc.contributor.googleauthorLee KR-
dc.contributor.googleauthorKim WH-
dc.admin.authorfalse-
dc.admin.mappingfalse-
dc.contributor.localIdA00774-
dc.contributor.localIdA01079-
dc.contributor.localIdA04030-
dc.relation.journalcodeJ00984-
dc.identifier.pmid19579612-
dc.contributor.alternativeNameCheon, Jae Hee-
dc.contributor.alternativeNameKim, Won Ho-
dc.contributor.alternativeNameKim, Tae Il-
dc.contributor.affiliatedAuthorKim, Won Ho-
dc.contributor.affiliatedAuthorKim, Tae Il-
dc.contributor.affiliatedAuthorCheon, Jae Hee-
dc.citation.volume56-
dc.citation.number90-
dc.citation.startPage421-
dc.citation.endPage423-
dc.identifier.bibliographicCitationHEPATO-GASTROENTEROLOGY, Vol.56(90) : 421-423, 2009-
dc.identifier.rimsid41945-
dc.type.rimsART-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Others (기타) > 1. Journal Papers

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