Linked Life Data

15946879

Source:http://linkedlifedata.com/resource/pubmed/id/15946879

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2005-8-1
pubmed:abstractText
Inosine triphosphate pyrophosphohydrolase (ITPase) is an enzyme that catalyzes the conversion of inosine triphosphate (ITP) to inosine monophosphate and pyrophosphate. In Caucasian populations it is reported that the frequency of cases showing decreased ITPase activity is 5%. The structure of ITPA gene along with five single nucleotide polymorphisms has been reported in Caucasians. We examined ITPase activity and frequency of two polymorphisms (94C>A and IVS2+21A>C) in 100 Japanese individuals. Among these individuals, we observed that three cases with zero activity were homozygote for 94C>A, and were accompanied by abnormal accumulation of ITP in erythrocytes. The cases included in the low ITPase activity group were heterozygote for 94C>A polymorphism. The activity of the heterozygote cases was approximately 27% of the mean value of the wild type. The allele frequency of the 94C>A polymorphism was 0.155, which was 2.6 times higher than that of the Caucasians (0.06). The IVS2+21A>C was not detected in Japanese cases, although it occurred with a frequency of 0.130 in Caucasians. Furthermore, we identified a novel mutation IVS2+68T>G in intron 2 in the case with the lowest enzyme activity in the 94C>A wild type. Since the frequency of ITPA 94C>A polymorphism is higher in the Japanese population than that in Caucasians, it is more important to examine ITPA 94C>A polymorphism in the Japanese population to prevent thiopurine drug toxicity. Pretherapeutic screening of individuals for ITPA polymorphisms should be considered for safer and more tolerable treatment with thiopurine drugs.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
1096-7192
pubmed:author
pubmed:issnType
Print
pubmed:volume
85
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
271-9
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2005
pubmed:articleTitle
Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population.
pubmed:affiliation
Department of Hospital Pharmacy, Nagoya City University Hospital, 1 Kawasumi, Mizuho-cho, Mizuho-ku, Nagoya, Aichi 467-8602, Japan. phmaeda@med.nagoya-cu.ac.jp
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't