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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.authorARMAN, AHMET
dc.contributor.authorGEÇKİNLİ, BİLGEN BİLGE
dc.contributor.authorsDÜNDAR M., FAHRİOGLU U., Yildiz S. H., Bakir-Gungor B., TEMEL Ş. G., AKIN H., ARTAN S., Cora T., ŞAHİN F. İ., DURSUN A., et al.
dc.date.accessioned2023-02-15T06:11:21Z
dc.date.available2023-02-15T06:11:21Z
dc.date.issued2022-06-01
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.
dc.identifier.citationDÜNDAR M., FAHRİOGLU U., Yildiz S. H., Bakir-Gungor B., TEMEL Ş. G., AKIN H., ARTAN S., Cora T., ŞAHİN F. İ., DURSUN A., et al., "Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium", FUNCTIONAL & INTEGRATIVE GENOMICS, cilt.22, sa.3, ss.291-315, 2022
dc.identifier.doi10.1007/s10142-021-00819-3
dc.identifier.endpage315
dc.identifier.issn1438-793X
dc.identifier.issue3
dc.identifier.startpage291
dc.identifier.urihttps://hdl.handle.net/11424/286303
dc.identifier.volume22
dc.language.isoeng
dc.relation.ispartofFUNCTIONAL & INTEGRATIVE GENOMICS
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectTıbbi Genetik
dc.subjectYaşam Bilimleri
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectTemel Bilimler
dc.subjectMedicine
dc.subjectHealth Sciences
dc.subjectInternal Medicine Sciences
dc.subjectMedical Genetics
dc.subjectLife Sciences
dc.subjectMolecular Biology and Genetics
dc.subjectNatural Sciences
dc.subjectGENETİK VE KALITIM
dc.subjectMoleküler Biyoloji ve Genetik
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectGENETICS & HEREDITY
dc.subjectMOLECULAR BIOLOGY & GENETICS
dc.subjectLife Sciences (LIFE)
dc.subjectGenetics
dc.subjectMolecular Biology
dc.subjectGenetics (clinical)
dc.subjectFamilial Mediterranean fever
dc.subjectGenotype-phenotype correlations
dc.subjectMEFV
dc.subjectNational Genetics Consortium
dc.subjectFAMILIAL MEDITERRANEAN FEVER
dc.subjectPROTEIN ASC
dc.subjectKAPPA-B
dc.subjectMUTATIONS
dc.subjectPYRIN
dc.subjectAUTOINFLAMMATION
dc.subjectASSOCIATIONS
dc.subjectAMYLOIDOSIS
dc.subjectPREVALENCE
dc.subjectACTIVATION
dc.titleClinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
dc.typearticle
dspace.entity.typePublication
local.avesis.idcd169be6-fe9e-4955-9f97-fb13b3622339
local.indexed.atWOS
local.indexed.atPUBMED
local.indexed.atSCOPUS
relation.isAuthorOfPublicationaeb6705c-76c3-423f-bf49-bf3e1bb0edf1
relation.isAuthorOfPublication5f812a34-2d87-4040-b76f-0b90c1c695ae
relation.isAuthorOfPublication.latestForDiscoveryaeb6705c-76c3-423f-bf49-bf3e1bb0edf1

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