Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

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dc.authorid0000-0001-6405-1112en_US
dc.authorid0000-0002-3037-2353en_US
dc.contributor.authorDündar, Munis
dc.contributor.authorFahrioğlu, Umut
dc.contributor.authorYıldız, Saliha Handan
dc.contributor.authorGüngör, Burcu Bakır
dc.contributor.authorTemel, Sehime Gülsün
dc.contributor.authorAkın, Haluk
dc.contributor.authorTekeş, Selahaddin
dc.contributor.authorÜzel, Veysiye Hülya
dc.contributor.authorEm, Serda
dc.date.accessioned2023-03-13T10:58:11Z
dc.date.available2023-03-13T10:58:11Z
dc.date.issued2022en_US
dc.departmentDicle Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalıen_US
dc.description.abstractFamilial Mediterranean fever (FMF) is a monogenic autoinflammatory disorder with recurrent fever, abdominal pain, serositis, articular manifestations, erysipelas-like erythema, and renal complications as its main features. Caused by the mutations in the MEditerranean FeVer (MEFV) gene, it mainly affects people of Mediterranean descent with a higher incidence in the Turkish, Jewish, Arabic, and Armenian populations. As our understanding of FMF improves, it becomes clearer that we are facing with a more complex picture of FMF with respect to its pathogenesis, penetrance, variant type (gain-of-function vs. loss-of-function), and inheritance. In this study, MEFV gene analysis results and clinical findings of 27,504 patients from 35 universities and institutions in Turkey and Northern Cyprus are combined in an effort to provide a better insight into the genotype-phenotype correlation and how a specific variant contributes to certain clinical findings in FMF patients. Our results may help better understand this complex disease and how the genotype may sometimes contribute to phenotype. Unlike many studies in the literature, our study investigated a broader symptomatic spectrum and the relationship between the genotype and phenotype data. In this sense, we aimed to guide all clinicians and academicians who work in this field to better establish a comprehensive data set for the patients. One of the biggest messages of our study is that lack of uniformity in some clinical and demographic data of participants may become an obstacle in approaching FMF patients and understanding this complex disease.en_US
dc.identifier.citationDündar, M., Fahrioğlu, U., Yıldız, S.H., Güngör, B.B., Temel, S.G., Akın, H. ve diğerleri. (2022). Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium. Functional & Integrative Genomics, 22(3), 291-315.en_US
dc.identifier.doi10.1007/s10142-021-00819-3
dc.identifier.endpage315en_US
dc.identifier.issue3en_US
dc.identifier.pmid35098403
dc.identifier.scopus2-s2.0-85124087398
dc.identifier.scopusqualityN/A
dc.identifier.startpage291en_US
dc.identifier.urihttps://link.springer.com/article/10.1007/s10142-021-00819-3
dc.identifier.urihttps://hdl.handle.net/11468/11378
dc.identifier.volume22en_US
dc.identifier.wosWOS:000748447100001
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorTekeş, Selahaddin
dc.institutionauthorÜzel, Veysiye Hülya
dc.institutionauthorEm, Serda
dc.language.isoenen_US
dc.publisherSpringer Heidelbergen_US
dc.relation.ispartofFunctional & Integrative Genomics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectFamilial Mediterranean feveren_US
dc.subjectGenotype-phenotype correlationsen_US
dc.subjectMEFVen_US
dc.subjectNational Genetics Consortiumen_US
dc.titleClinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortiumen_US
dc.titleClinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
dc.typeArticleen_US

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