2013 Fiscal Year Final Research Report
Resequencing of the entire HLA region in autoimmune liver diseases
| Project/Area Number |
23590969
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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 |
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| Co-Investigator(Renkei-kenkyūsha) |
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 | HLA / 自己免疫性肝炎 / 原発性胆汁性肝硬変 / 次世代シークエンサー / DNAタイピング |
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| Research Abstract |
We investigated HLA class I A, B, and C and HLA class II DRB1 and DQB1 alleles and haplotypes in Japanese patients with autoimmune hepatitis (AIH) and primary biliary cirrhosis (PBC). HLA-DRB1 DRB1*04:05-DQB1*04:01 haplotype was significantly associated with AIH susceptibility. Conversely, the DRB1*15:01-DQB1*06:02 haplotype was associated with protection from both disease onset. Significant associations were found with PBC susceptibility for the DRB1*08:03-DQB1*06:01. There were significant protective associations with the DRB1*13:02-DQB1*06:04 and DRB1*11:01-DQB1*03:01 haplotypes. The frequency of the DRB1*08:03-DQB1*06:01 haplotype was significantly higher in AIH patients who developed hepatic failure. The frequency of the DRB1*09:01-DQB1*03:03 haplotype was significantly higher in PBC patients who had received orthotopic liver transplantation. We established the role of HLA haplotypes in determining AIH and PBC susceptibility, protection and progression in the Japanese population.
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