| Project/Area Number |
26860477
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
General internal medicine(including psychosomatic medicine)
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| Research Institution | Shinshu University |
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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)
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| 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)
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| Project Period (FY) |
2014-04-01 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2016: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2015: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2014: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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| 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 / 遺伝子診断 / 月経 / 自己炎症性疾患 / 臨床像 / 民族差 |
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| 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.
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