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- TERAO Chikashi
- Center for Genomic Medicine, Kyoto University Graduate School of Medicine
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- YOSHIFUJI Hajime
- Department of Rheumatology and Clinical Immunology, Kyoto University Graduate School of Medicine
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- MIMORI Tsuneyo
- Department of Rheumatology and Clinical Immunology, Kyoto University Graduate School of Medicine
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- MATSUDA Fumihiko
- Center for Genomic Medicine, Kyoto University Graduate School of Medicine
Bibliographic Information
- Other Title
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- 高安動脈炎疾患感受性HLAアレルおよびアミノ酸
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Abstract
Takayasu arteritis (TAK) is a systemic vasculitis affecting aorta and its large branches which were firstly reported from Japan. TAK develops mainly in young females and the number of patients with TAK in Japan is estimated about 6,000 to 10,000. This low prevalence has made genetic studies of TAK difficult to elucidate its genetic background. The HLA region, especially HLA-B locus, is the strongest susceptibility locus to TAK. The association between TAK and HLA-B*52:01 has been established beyond ethnicity. Recently, two different Japanese research groups identified HLA-B67:01, a relatively rare allele in East Asian population, as a novel susceptibility allele. At the same time, two amino acid variations, namely, histidine at position 171 and phenylalanine at position 67 were reported as susceptibility and protective variations, respectively. Since these positions of amino acid are in the peptide binding grooves of HLA-B protein, changes of peptide-binding in MHC class I seem to play a critical role on susceptibility to TAK. Furthermore, the importance of these two amino acid variations would explain the lack of susceptibility effect of HLA-B*51:01 to TAK, which shares most of amino acid sequences with HLA-B*52:01 except for two amino acids including the position 67.
Journal
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- Japanese Journal of Clinical Immunology
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Japanese Journal of Clinical Immunology 37 (3), 166-170, 2014
The Japan Society for Clinical Immunology