| Project/Area Number |
13470506
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Human genetics
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| Research Institution | The University of Tokyo |
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Principal Investigator |
TOKUNAGA Katsushi The University of Tokyo, Graduate School of Medicine, Professor, 大学院・医学系研究科, 教授 (40163977)
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| Co-Investigator(Kenkyū-buntansha) |
NIEDA Mie MEDINET CO., LTD, Laboratory of Molecular Immunology, Senior Researcher, 分子免疫学研究所, 主任研究員
YABE Toshio Tokyo Metropolitan Red Cross Blood Center, Research Section 1, Senior Researcher, 技術部研究一課, 係長(研究職)
TSUCHIYA Naoyuki The University of Tokyo, Graduate School of Medicine, Associate Professor, 大学院・医学系研究科, 助教授 (60231437)
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| Project Period (FY) |
2001 – 2003
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| Project Status |
Completed (Fiscal Year 2003)
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| Budget Amount *help |
¥11,400,000 (Direct Cost: ¥11,400,000)
Fiscal Year 2003: ¥3,100,000 (Direct Cost: ¥3,100,000)
Fiscal Year 2002: ¥3,700,000 (Direct Cost: ¥3,700,000)
Fiscal Year 2001: ¥4,600,000 (Direct Cost: ¥4,600,000)
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| Keywords | Class I antigen receptor / NK receptor / KIR gene family / NKG2 gene family / LILR gene family / HLA genes / rheumatic diseases / Tapasin遺伝子 / NKレセプター / NKT細胞 / α-GalCer |
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| Research Abstract |
Polymorphisms of human genes of KIR, NKG2, LILR families and NKp30 have been investigated. On the KIR family, profiles and haplotypes of 17 different KIR genes were analyzed. Concerning the NKG2A, NKG2C and NKp30 gene polymorphisms, 11, 4 and 5 different alleles have been identified, respectively. Moreover, we found the frequent occurrence of NKG2C gene deletion. We further elucidated the breakpoints of the deletion by nucleotide sequencing, and then established a system for detecting heterozygotes with deletion. The ILT2 gene in the LILR family was also found to have many alleles, and some of them showed significant associations with rheumatoid arthritis (RA). Association studies on herpes zoster and post-herpetic neuralgia (PHN) have been performed, and a specific HLA haplotype was shown to predispose susceptibility to PHN. Furthermore, we found that a new case of HLA class I deficiency was caused by a partial deletion of the Tapasin gene. In this case, decrease of the expression levels of class I molecules was less than that in the TAP1 gene deletion.
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