Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever

2016 Fiscal Year Final Research Report

• Project/Area Number: 26860477
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: General internal medicine(including psychosomatic medicine)
• Research Institution: Shinshu University
• Principal Investigator: KISHIDA Dai 信州大学, 学術研究院医学系(医学部附属病院), 助教 (50467180)
• Research Collaborator: NAKAMURA Akinori 信州大学, 医学部, 特任教授 (10303471) ; YAZAKI Masahide 信州大学, 学術研究院医学系, 准教授 (70372513)
• Project Period (FY): 2014-04-01 – 2017-03-31
• Keywords: 家族性地中海熱 / 自己炎症疾患 / MEFV遺伝子 / 遺伝型 / 表現型 / コルヒチン

Outline of Final Research Achievements

Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent self-limiting fever and serositis that mainly affects Mediterranean populations. We analyzed patients clinically diagnosed as having FMF to examine the precise genotype-phenotype correlation in a large cohort of Japanese FMF patients.
The most frequent mutation in Japanese patients was E148Q, followed by M694I, L110P, P369S, and R408Q. The clinical features with M694I were associated with more severe clinical course compared to those seen with E148Q. P369S/R408Q showed variable phenotypes with regard to both clinical manifestations and severity. Patients with M694I showed a very favorable response to colchicine therapy, while those with P369S and R408Q did not.
Clinical features and efficacy of treatment in Japanese FMF patients vary widely according to the specific MEFV gene mutation, and therefore genetic analysis should be performed for diagnosis in cases of Japanese FMF.

Free Research Field

自己炎症疾患