• Mustafa Çapraz and Muhammed Emin Düz.
• Sabuncuoğlu Şerefeddin Training and Research Hospital, Internal Medicine, Amasya University, Amasya, Turkey.
• Ir J Med Sci. 2023 Oct 1; 192 (5): 227322782273-2278.

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.© 2022. The Author(s), under exclusive licence to Royal Academy of Medicine in Ireland.

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