ArticleMolecular genetics & genomic medicine2015
Global epidemiology of Familial Mediterranean fever mutations using population exome sequences.
Article in Molecular genetics & genomic medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 47 citations in OpenAlex.
- Before calling it FMF: MEFV variants of uncertain significance in autoinflammatory disease.Rheumatology (Oxford, England) · 2026Article
- Increasing Importance of Genotype-Phenotype Correlations Associated with Common and Rare MEFV Gene Mutations in FMF Patients in the Last Thirty Years.Journal of clinical medicine · 2025Article
- Prolonged Peritoneal Attack: A Rare but Crucial Clinical Presentation of Familial Mediterranean Fever.Cureus · 2024Article
- Post COVID recurrent fever in children with polymorphisms in the innate immunity regulator, pyrin; MEFV gene.The journal of allergy and clinical immunology. In practice · 2023Article
- ＜Editors' Choice＞ Myelodysplastic syndrome with trisomy 8 presenting periodic fever and multipleNagoya journal of medical science · 2023Article
- Immunogenic Potential of the Mediterranean Fever Gene in Patients with Coronavirus Disease: A Cross-Sectional Study.Iranian journal of medical sciences · 2023Article
- The unsolved mystery of MEFV variants variable expressivity in Familial Mediterranean Fever.Internal and emergency medicine · 2022Article
- Features predicting colchicine efficacy in treatment of children with undefined systemic autoinflammatory disease: A retrospective cohort study.European journal of rheumatology · 2022Article
- Atypical Familial Mediterranean Fever in a Japanese Boy with HeterozygousCase reports in pediatrics · 2021Article
- Familial Mediterranean Fever and COVID-19: Friends or Foes?Frontiers in immunology · 2020Review
- Familial Mediterranean Fever: Assessing the Overall Clinical Impact and Formulating Treatment Plans.Mediterranean journal of hematology and infectious diseases · 2019Review
- Clinical and genetic heterogeneity in a large cohort of Armenian patients with late-onset familial Mediterranean fever.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Familial Mediterranean fever in Jordanian Children: single centre experience.Mediterranean journal of rheumatology · 2018Article
- Five Cases of Familial Mediterranean Fever in Japan: The Relationship with MEFV Mutations.Internal medicine (Tokyo, Japan) · 2018Article
- CBL mutation and MEFV single-nucleotide variant are important genetic predictors of tumor reduction in glucocorticoid-treated patients with chronic myelomonocytic leukemia.International journal of hematology · 2018Article
- Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever andClinical case reports · 2017Article
- Autoinflammation: When is familial Mediterranean fever 'severe'?Nature reviews. Rheumatology · 2016Article
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial Mediterranean fever (FMF) is an inherited disorder characterized by recurrent episodes of fever accompanied by sterile peritonitis, arthritis, and pleuritis. Many mutations in the MEFV gene have been identified as causing FMF. However, accompanying epidemiological information remains quite scarce except in some Mediterranean countries, and the degree of penetrance has been a subject of controversy. Here, I established a genetic epidemiology of full FMF mutations using two population exome studies. Of 57 mutations associated with FMF, 22 were detected in a total of 9007 individuals from two exome sequences. Exome-based epidemiology revealed the carrier rates of FMF in 28 populations in 19 countries by individual mutation and showed strong population specificity for the MEFV mutations. Unexpectedly high carrier rates suggested that some mutations are benign variants with no pathological significance and highlighted the need for caution in analyzing MEFV mutations. Similar approach could be used to uncover the incomplete or no penetrance of mutations in most inherited disorders.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.