Document Detail

Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population.
MedLine Citation:
PMID:  15946879     Owner:  NLM     Status:  MEDLINE    
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.
Tohru Maeda; Satoshi Sumi; Akihito Ueta; Yumiko Ohkubo; Tetsuya Ito; Anthony M Marinaki; Yukihisa Kurono; Shinsaku Hasegawa; Hajime Togari
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  85     ISSN:  1096-7192     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:  2005 Aug 
Date Detail:
Created Date:  2005-08-01     Completed Date:  2005-10-27     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  271-9     Citation Subset:  IM    
Department of Hospital Pharmacy, Nagoya City University Hospital, 1 Kawasumi, Mizuho-cho, Mizuho-ku, Nagoya, Aichi 467-8602, Japan.
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MeSH Terms
Asian Continental Ancestry Group / genetics*
Child, Preschool
DNA / blood
Deficiency Diseases
Gene Frequency
Metabolism, Inborn Errors / genetics*
Polymerase Chain Reaction
Polymorphism, Genetic*
Pyrophosphatases / blood,  deficiency,  genetics*
Reg. No./Substance:
9007-49-2/DNA; EC 3.6.1.-/Pyrophosphatases; EC 3.6.1.-/inosine triphosphatase

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