ArticleIrish journal of medical science2023
R202Q prevalence in clinically diagnosed Familial Mediterranean Fever patients: 9 years of data analysis from 1570 patients living Central Black Sea region, Turkey.
Article in Irish journal of medical science, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 6 citations in OpenAlex.
- MEFV variant spectrum and exploratory in silico stratification of uncommon variants in 611 individuals tested for suspected familial Mediterranean fever in the Eastern Black Sea region of Türkiye.BMC genomic data · 2026Article
- Characterizing Protracted Febrile Myalgia: Fasciitis and Vasculitis of the Fascia and Muscle as Novel Histopathological Features.Journal of clinical medicine · 2024Article
- Late-onset familial Mediterranean fever: A case series of missed diagnoses in pleural effusions.Sage open chronic diseaseArticle
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2 authors at 1 institution in 1 country.
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Abstract
introductionFamilial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent self-limiting fever, peritonitis, arthritis, and erysipelas-like-erythema, common among ethnic groups such as Turkish, Armenian, Arab, and Jewish. The disease is caused by mutations in the MEFV gene encoding the Pyrin. This study examines the genotypes of FMF patients from Amasya, Turkey.
methodAccording to the Tel Hashomer criteria, one thousand five hundred seventy patients (871 female, 699 male, mean age 21.2 ± 15.5 years) living in Amasya Province and the surroundings were screened for sequence variants in the entire MEFV gene. Besides, mutation types and alleles were evaluated with clinical findings.
resultsMEFV mutations and polymorphisms were found in 1413 of the 1570 patients (90%). Among these patients, 5 (0.3%) were double homozygous, 152 (9.7%) were homozygous, 373 (23.8%) were double heterozygous, and 882 (56.2%) were heterozygous. The most frequent genotype was R202Q (960, 43.5%) followed by M694V (n = 412, 18.7%), E148Q (n = 321, 14.6%), and M680I (n = 200, 9.1%). The most common clinical symptoms were abdominal pain (96.4%) and fever (91.3%).
conclusionsThe fact that the R202Q genotype, which is compatible with the known FMF clinic, is frequently seen shows that it should be included in routine molecular screenings of the patients. Functional studies of the R202Q variant pyrin protein should be performed to understand FMF better. Finally, it is unclear whether the R202Q genotype might be regarded as a mutation while being approved as a polymorphism in the inFevers database.
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