Identification of susceptibility genes for Kawasaki disease
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- ONOUCHI Yoshihiro
- Laboratory for Cardiovascular disease, Center for Genomic Medicine, RIKEN
Bibliographic Information
- Other Title
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- 川崎病の罹患感受性遺伝子の同定
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Abstract
Kawasaki disease is an acute febrile illness of infants and children with unknown etiology. Coronary artery lesions occurring in 20-25% of untreated patients of KD has made KD a leading cause of acquired heart diseases of childhood in developed countries. High prevalence in East Asian countries is one of the epidemiological features of KD and has suggested genetic factors underlying the disease pathogenesis. We tried to identify genetic variants relevant to KD susceptibility by sibpair linkage study and linkage diseuilibrium mapping with SNPs and found that inositol 1,4,5-trisphosphate 3-kianse C gene is a susceptibility gene for KD. We also found the negative regulatory role of ITPKC in TCR signaling and the mechanism by which the responsible SNP in intron 1 of the gene affects transcripts level of ITPKC. Our findings highlighted the importance of Ca2+/NFAT pathway in the pathogenesis of KD and shed light on the possibility of immuno-suppressants targeting the pathway as a therapeutic strategy for KD.<br>
Journal
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- Japanese Journal of Clinical Immunology
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Japanese Journal of Clinical Immunology 33 (2), 73-80, 2010
The Japan Society for Clinical Immunology
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Details 詳細情報について
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- CRID
- 1390001204648696064
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- NII Article ID
- 10027753409
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- NII Book ID
- AN00357971
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- ISSN
- 13497413
- 09114300
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- Text Lang
- ja
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- Data Source
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- JaLC
- Crossref
- CiNii Articles
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- Abstract License Flag
- Disallowed