2013 Fiscal Year Final Research Report
Genome wide association study for associated gens of autoimmune pancreatitis
| Project/Area Number |
23591012
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Gastroenterology
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| Research Institution | Shinshu University |
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Principal Investigator |
KAWA Shigeyuki 信州大学, 総合健康安全センター, 教授 (10177628)
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| Co-Investigator(Kenkyū-buntansha) |
OTA Masao 信州大学, 医学部, 准教授 (50115333)
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| Project Period (FY) |
2011 – 2013
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| Keywords | 自己免疫性膵炎 / IgG4 / 涙腺唾液腺病変 / 全ゲノム関連解析 / GWAS |
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| Research Abstract |
Autoimmune pancreatitis is a specific type of pancreatitis characterized by high serum IgG4 concentration and abundant IgG4 bearing plasma cell infiltration, and complicated with variety of other organ involvements. We performed genome-wide association study (GWAS) to elucidate the genes that associated with the pathogenesis of AIP. We confirmed SNPs that showed significant differences between AIP and control, and these SNPs revealed 13 candidate genes. Among these, we identified that CLNK and PAX5 genes showed significant association with AIP by fine mapping. Functions of CLNK and PAK5 genes may associated with immunological responses. In addition, we revealed 10 candidate genes that were associated with complication of lachrymal and salivary gland lesions, that represent active state of AIP. Among these, KLF gene showed significant association with this complication.
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[Journal Article] Clinical significance of immunoglobulin G4-associated autoimmune hepatitis2011
Author(s)
Umemura T, Zen Y, Hamano H, Joshita S, Ichijo T, Yoshizawa K, Kiyosawa K, Ota M, Kawa S, Nakanuma Y, Tanaka E
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Journal Title
J Gastroenterol
Volume: 46 (Suppl 1)
Pages: 48-55
Peer Reviewed
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