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

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dc.contributor.authorDundar, Munis
dc.contributor.authorFahrioglu, Umut
dc.contributor.authorYildiz, Saliha Handan
dc.contributor.authorBakir-Gungor, Burcu
dc.contributor.authorTemel, Sehime Gulsun
dc.contributor.authorAkin, Haluk
dc.contributor.authorArtan, Sevilhan
dc.date.accessioned2024-02-23T13:55:58Z
dc.date.available2024-02-23T13:55:58Z
dc.date.issued2022
dc.departmentNEÜen_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.doi10.1007/s10142-021-00819-3
dc.identifier.endpage315en_US
dc.identifier.issn1438-793X
dc.identifier.issn1438-7948
dc.identifier.issue3en_US
dc.identifier.pmid35098403en_US
dc.identifier.scopus2-s2.0-85124087398en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage291en_US
dc.identifier.urihttps://doi.org/10.1007/s10142-021-00819-3
dc.identifier.urihttps://hdl.handle.net/20.500.12452/11037
dc.identifier.volume22en_US
dc.identifier.wosWOS:000748447100001en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringer Heidelbergen_US
dc.relation.ispartofFunctional & Integrative Genomicsen_US
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.typeArticleen_US

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