Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.
Munis DündarUmut FahriogluSaliha Handan YildizBurcu Bakir-GungorSehime Gulsun TemelHaluk AkinSevilhan ArtanTulin CoraFeride Iffet SahinAhmet DursunOzlem SezerHakan GurkanMurat ErdoganC Nur Semerci GunduzAtil BisginOzturk OzdemirAyfer UlgenalpE Ferda PercinMalik Ejder YildirimSelahaddin TekesHaydar BagisHuseyin YuceNilgun DumanGokay BozkurtKanay YararbasMahmut Selman YildirimAhmet ArmanErcan MihciSerpil EraslanZuhal Mert AltintasHuri Sema AymelekHatice Ilgin RuhiAbdulgani TatarMahmut Cerkez ErgorenG Ozan CetinUmut AltunogluAhmet Okay CaglayanBerrin YukselYusuf OzkulCetin SaatciSercan KenanogluNilgun KarasuBilge DundarFirat OzcelikMikail DemirBetul Seyhan SiniksaranHande KulakKubra KiranatliogluKubra BaysalUlviyya KazimliHilal AkalinAyca DundarMehmet BozArslan BayramAsli SubasiogluFatma Kurt ColakNeslihan KaradumanMeltem Cerrah GunesNefise KandemirBusra AynekinRabia EmekliIzem Olcay SahinSevda Yesim OzdemirMuge Gulcihan OnalAbdurrahman Soner SenelMuammer Hakan PoyrazogluAyse Nur Pac KisaarslanSebnem GursoyMevlut BaskolMustafa CalisHuseyin DemirGozde Erturk ZararsizMujgan Ozdemir ErdoganMuhsin ElmasMustafa SolakMemnune Sena UluAdam ThahirZafer AydinUmut AtaseverSebnem Ozemri SagLamiya AliyevaAdem AlemdarBerkcan DoganCemre Ornek ErguzelogluNiyazi KayaFerda OzkinayOzgur CoguluAsude DurmazHuseyin OnayEmin KaracaBurak DurmazAyca AykutOguz CilingirBeyhan Durak ArasEbru Erzurumluoglu GokalpSerap ArslanArda TemenaKonul HaziyevaSinem KocagilHasan BasEzgi SusamAli Riza KeklikciElif SaracNadir KocakSuleyman NergizYunus Kasim TerziSelin Akad DincerEsra Sidika BaskinGunes Cakmak GencOguzhan BahadirAslihan SanriSerbulent YigitHilmi TozkirSinem YalcintepeNese OzkayinAslihan KirazBurhan BaltaGizem Akinci GonenE Emre KurtGulay Gulec CeylanAhmet Cevdet CeylanSukran ErtenSevcan Tug BozdoganIbrahim BogaMustafa YilmazFatma SilanMehmet KocabeyAltug KocTufan CankayaElcin BoraOzlem Giray BozkayaDerya ErcalMehmet Ali ErgunSezen Guntekin ErgunYesim Sidar DumanSerife Busra BeyazitVeysiye Hulya UzelSerda EmMuhammer Ozgur CevikRecep ErozMercan DemirtasCem Koray FiratZehra Manav KabayegitMustafa AltanLamiya MardanCeyhan SayarSait TumerBurcu TurkgencHilal Keskin KarakoyunBetul TuncSeda KuruAysegul ZamaniBilgen Bilge GeckinliEsra Arslan AtesOzden Altiok ClarkAsli ToyluMert CoskunBanu NurIlmay BilgeOya Uygur BayramicliHakan EmmungilZeynep KomesliMujdat ZeybelFigen GurakanMehmet TasdemirRejin KebudiHalil Gurhan KarabulutTimur TuncaliNuket Yurur KutlayCigdem Yuce KahramanNerin Bahceciler OnderIlke BeyitlerSalih KavukcuPinar TulayOzgur TosunGulten TuncelGamze MocanHamdi KaleZehra Oya UygunerAynur AcarMert AltinayLevent Erdemnull nullPublished in: Functional & integrative genomics (2022)
Familial 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.