Exon 2: Is it the good police in familial mediterranean fever?

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dc.authorid0000-0002-0783-1072
dc.authorid0000-0002-9035-689X
dc.authorid0000-0001-9311-8179
dc.authorid0000-0001-5184-4404
dc.authorid0000-0003-1064-9690
dc.authorid0000-0002-1730-2991
dc.contributor.authorBilge, Nazife Şule Yaşar
dc.contributor.authorSolmaz, Dilek
dc.contributor.authorŞenel, Soner
dc.contributor.authorEmmungil, Hakan
dc.contributor.authorKılıç, Levent
dc.contributor.authorBeş, Cemal
dc.date.accessioned2021-06-23T18:27:13Z
dc.date.available2021-06-23T18:27:13Z
dc.date.issued2019
dc.departmentBAİBÜ, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractObjective: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. Most of the identified disease-causing mutations are located on exon 10. As the number of studies about the effect of the exonal location of the mutation and its phenotypic expression is limited, we aimed to investigate whether the exonic location of the Mediterranean fever (MEFV) mutation has an effect on the clinical manifestation in patients with FMF. Methods: Study population was derived from the main FMF registry that included 2246 patients from 15 different rheumatology clinics. We categorized the mutations according to their exon locations and retrieved the clinical and demographic information from the database. Results: Patients having the MEFV mutations on exon 2 or 10 (n:1526) were divided into three sub- groups according to the location of the MEFV mutations: Group 1 (exon 2 mutations), Group 2 (exon 10 mutations), and Group 3 (both exon 2 and exon 10 mutations). Group 2 patients were of a signifi- cantly younger age at onset, and erysipel-like erythema, arthritis, amyloidosis, and a family history of FMF were more common in this group. Conclusion: Patients with FMF and exon 10 mutations show more severe clinical symptoms and out- come. Exon 2 mutations tend to have a better outcome.en_US
dc.identifier.endpage36en_US
dc.identifier.issn2147-9720
dc.identifier.issn2148-4279
dc.identifier.issue1en_US
dc.identifier.pmid#YOKen_US
dc.identifier.startpage33en_US
dc.identifier.trdizinid310838en_US
dc.identifier.urihttps://app.trdizin.gov.tr/makale/TXpFd09ETTRPQT09
dc.identifier.urihttps://hdl.handle.net/20.500.12491/1623
dc.identifier.volume6en_US
dc.identifier.wosWOS:000463722100007en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.institutionauthorBeş, Cemal
dc.language.isoenen_US
dc.relation.ispartofEuropean Journal of Rheumatologyen_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectE148Q
dc.subjectExon 2
dc.subjectExon 10
dc.subjectFamilial Mediterranean Fever
dc.subjectM694V
dc.titleExon 2: Is it the good police in familial mediterranean fever?en_US
dc.typeArticleen_US

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