Identification of susceptibility genes for HLA-associated diseases including Behcet's disease

2014 Fiscal Year Final Research Report

• Project Area: HLA polymorphism, disease and evolution
• Project/Area Number: 22133010
• Research Category: Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
• Allocation Type: Single-year Grants
• Review Section: Biological Sciences
• Research Institution: Yokohama City University
• Principal Investigator: MIZUKI Nobuhisa 横浜市立大学, 医学(系)研究科(研究院), 教授 (90336579)
• Co-Investigator(Kenkyū-buntansha): KAWAGOE Tatsukata 横浜市立大学, 医学部, 助教 (20564800) ; OHNO Shigeaki 北海道大学, 医学研究科, 名誉教授 (50002382)
• Research Collaborator: MEGURO Akira ; TAKEUCHI Masaki ; REMMERS Elaine F.
• Project Period (FY): 2010-04-01 – 2015-03-31
• Keywords: HLA関連遺伝性眼疾患 / ベーチェット病 / サルコイドーシス / 原田病

Outline of Final Research Achievements

The endoplasmic reticulum aminopeptidase 1 (ERAP1) is centrally involved in peptide trimming before HLA class I presentation. This study found that ERAP1 polymorphisms are associated with Behcet's disease and that also identified evidence of a gene-gene interaction between HLA-B*51 and ERAP1 in the disease.
This study showed associations between certain HLA-DRB1/HLA-DQB1 alleles and sarcoidosis in a Japanese population. In addition, We found an association between BTNL2, located in close proximity to HLA-DRB1 and HLA-DQB1, and also clarified whether the BTNL2 association is independent of the HLA risk alleles.

Free Research Field

眼科学