ArticleArthritis research & therapy2014
Genotype-phenotype correlation in Japanese patients with familial Mediterranean fever: differences in genotype and clinical features between Japanese and Mediterranean populations.
Article in Arthritis research & therapy, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed, 95 citations in OpenAlex.
- Musculoskeletal manifestations occur predominantly in patients with later-onset familial Mediterranean fever: Data from a multicenter, prospective national cohort study in Japan.Arthritis research & therapy · 2018Trial
- Familial Mediterranean Fever Presenting with Recurrent Abdominal Pain without Periodic Fever Following COVID-19.Internal medicine (Tokyo, Japan) · 2026Article
- Anti-citrullinated Protein Antibody-positive Arthralgia Associated with an L110P-E148Q Double Heterozygote: A Case-based Review.Internal medicine (Tokyo, Japan) · 2026Review
- Dermoscopic Findings of a Rare Variant of Elastolytic Giant Cell Granuloma: Papular Form.Acta dermato-venereologica · 2026Article
- The clinical significance of the Mediterranean fever gene MEFV variants in Castleman disease.Communications medicine · 2026Article
- Towards a basis for vascular versus intestinal phenotype differences; East Meets West in Behcet's disease.Frontiers in immunology · 2026Review
- Identification of pathogenicJournal of rheumatic diseases · 2025Article
- Elderly-onset Familial Mediterranean Fever Carrying MEFV Exon 10 Variants in a Japanese Patient.Internal medicine (Tokyo, Japan) · 2025Article
- A patient with P369S/R408Q variants in the MEFV gene presented with clinical features of Kikuchi disease and Mollaret meningitis, successfully treated with colchicine.BMC neurology · 2024Article
- New and future perspectives in familial Mediterranean fever and other autoinflammatory diseases.Archives of rheumatology · 2024Article
- Molecular analyses of MEFV gene mutation variants in Turkish population.Molecular biology reports · 2024Article
- Associations ofHeliyon · 2024Article
- Neuromyelitis optica spectrum disorder with a familial Mediterranean fever gene E84K mutation.Journal of neurology · 2023Article
- Familial Mediterranean Fever in Spain: Time Trend and Spatial Distribution of the Hospitalizations.International journal of environmental research and public health · 2023Article
- Two Cases of Familial Mediterranean Fever Involving MEFV Variants: The Importance of Differentiating the Diagnosis from COVID-19.Internal medicine (Tokyo, Japan) · 2023Article
- ＜Editors' Choice＞ Myelodysplastic syndrome with trisomy 8 presenting periodic fever and multipleNagoya journal of medical science · 2023Article
- Recurrent Fever with Oral Lesions in Egyptian Children: A Familial Mediterranean Fever Diagnosis Not to Be Missed.Children (Basel, Switzerland) · 2022Article
- Clinical perspectives and therapeutic strategies: pediatric autoinflammatory disease-a multi-faceted approach to fever of unknown origin of childhood.Inflammation and regeneration · 2022Review
- A patient with familial Mediterranean fever mimicking diarrhea-dominant irritable bowel syndrome who successfully responded to treatment with colchicine: a case report.Journal of medical case reports · 2022Article
- Familial Mediterranean Fever: How to Interpret Genetic Results? How to Treat? A Quarter of a Century After the Association with the Mefv Gene.Current rheumatology reports · 2022Review
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionFamilial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent self-limiting fever and serositis that mainly affects Mediterranean populations. Many patients with FMF have been reported in Japan due to increasing recognition of this condition and the availability of genetic analysis for the gene responsible, MEFV. The present study was performed to elucidate the clinical characteristics of Japanese FMF patients and to examine the precise genotype-phenotype correlation in a large cohort of Japanese FMF patients.
methodsWe analyzed the MEFV genotypes and clinical manifestations in 116 patients clinically diagnosed as having FMF and with at least one mutation.
resultsThe most frequent mutation in Japanese patients was E148Q (40.2%), followed by M694I (21.0%), L110P (18.8%), P369S (5.4%), and R408Q (5.4%). In contrast, common mutations seen in Mediterranean patients, such as M694V, V726A, and M680I, were not detected in this population. 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.
conclusionsClinical 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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