Exome-wide association study on Hashimoto encephalopathy with thyroiditis

2015 Fiscal Year Final Research Report

• Project/Area Number: 26670481
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Collagenous pathology/Allergology
• Research Institution: Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology
• Principal Investigator: Tanaka Masashi 地方独立行政法人東京都健康長寿医療センター(東京都健康長寿医療センター研究所), 東京都健康長寿医療センター研究所, 協力研究員 (60155166)
• Co-Investigator(Kenkyū-buntansha): Makoto Yoneda 福井県立大学, 看護福祉学部, 教授 (70270551)
• Project Period (FY): 2014-04-01 – 2016-03-31
• Keywords: 橋本脳症 / 慢性甲状腺炎 / エクソーム解析 / HLA-DRA / 抗N末端α-エノラーゼ / 関連解析

Outline of Final Research Achievements

Hashimoto encephalopathy associated with thyroiditis is an autoimmune disease characterized by dementia and psychological symptoms. In the present study, we analyzed 240K functional SNPs in the whole exome region. In autopsied cases, chronic lymphocytic thyroiditis was associated with polymorphisms in the HLA-DRA locus. Comparison between the anti-NAE Ab-positive Hashimoto encephalopathy group and the anti-NAE Ab-negative Hashimoto thyroiditis group revealed several missense mutations in the genes encoding proteins that potentially influence their antigenicity. These studies would pave the way to identification of genetic polymorphisms associated with pathogenesis, subtype classification, and variations in response to steroid therapy of Hashimoto encephalopathy.

Free Research Field

ゲノム医学