Dundar, MunisFahrioglu, UmutYildiz, Saliha HandanBakir-Gungor, BurcuTemel, Sehime GulsunAkin, HalukArtan, SevilhanCora, TulinSahin, Feride IffetDursun, AhmetSezer, OzlemGurkan, HakanErdogan, MuratGunduz, C. Nur SemerciBisgin, AtilOzdemir, OzturkUlgenalp, AyferPercin, E. FerdaYildirim, Malik EjderTekes, SelahaddinBagis, HaydarYuce, HuseyinDuman, NilgunBozkurt, GokayYararbas, KanayYildirim, Mahmut SelmanArman, AhmetMihci, ErcanEraslan, SerpilAltintas, Zuhal MertAymelek, Huri SemaRuhi, Hatice IlginTatar, AbdulganiErgoren, Mahmut CerkezCetin, G. OzanAltunoglu, UmutCaglayan, Ahmet OkayYuksel, BerrinOzkul, YusufSaatci, CetinKenanoglu, SercanKarasu, NilgunDundar, BilgeOzcelik, FiratDemir, MikailSiniksaran, Betul SeyhanKulak, HandeKiranatlioglu, KubraBaysal, KubraKazimli, UlviyyaAkalin, HilalDundar, AycaBoz, MehmetBayram, ArslanSubasioglu, AsliColak, Fatma KurtKaraduman, NeslihanGunes, Meltem CerrahKandemir, NefiseAynekin, BusraEmekli, RabiaSahin, Izem OlcayOzdemir, Sevda YesimOnal, Muge GulcihanSenel, Abdurrahman SonerPoyrazoglu, Muammer HakanKisaarslan, Ayse Nur PacGursoy, SebnemBaskol, MevlutCalis, MustafaDemir, HuseyinZararsiz, Gozde ErturkErdogan, Mujgan OzdemirElmas, MuhsinSolak, MustafaUlu, Memnune SenaThahir, AdamAydin, ZaferAtasever, UmutSag, Sebnem OzemriAliyeva, LamiyaAlemdar, AdemDogan, BerkcanErguzeloglu, Cemre OrnekKaya, NiyaziOzkinay, FerdaCogulu, OzgurDurmaz, AsudeOnay, HuseyinKaraca, EminDurmaz, BurakAykut, AycaCilingir, OguzAras, Beyhan DurakGokalp, Ebru ErzurumluogluArslan, SerapTemena, ArdaHaziyeva, KonulKocagil, SinemBas, HasanSusam, EzgiKeklikci, Ali RizaSarac, ElifKocak, NadirNergiz, SuleymanTerzi, Yunus KasimDincer, Selin AkadBaskin, Esra SidikaGenc, Gunes CakmakBahadir, OguzhanSanri, AslihanYigit, SerbulentTozkir, HilmiYalcintepe, SinemOzkayin, NeseKiraz, AslihanBalta, BurhanGonen, Gizem AkinciKurt, E. EmreCeylan, Gulay GulecCeylan, Ahmet CevdetErten, SukranBozdogan, Sevcan TugBoga, IbrahimYilmaz, MustafaSilan, FatmaKocabey, MehmetKoc, AltugCankaya, TufanBora, ElcinBozkaya, Ozlem GirayErcal, DeryaErgun, Mehmet AliErgun, Sezen GuntekinDuman, Yesim SidarBeyazit, Serife BusraUzel, Veysiye HulyaEm, SerdaCevik, Muhammer OzgurEroz, RecepDemirtas, MercanFirat, Cem KorayKabayegit, Zehra ManavAltan, MustafaMardan, LamiyaSayar, CeyhanTumer, SaitTurkgenc, BurcuKarakoyun, Hilal KeskinTunc, BetulKuru, SedaZamani, AysegulGeckinli, Bilgen BilgeAtes, Esra ArslanClark, Ozden AltiokToylu, AsliCoskun, MertNur, BanuBilge, IlmayBayramicli, Oya UygurEmmungil, HakanKomesli, ZeynepZeybel, MujdatGurakan, FigenTasdemir, MehmetKebudi, RejinKarabulut, Halil GurhanTuncali, TimurKutlay, Nuket YururKahraman, Cigdem YuceOnder, Nerin BahcecilerBeyitler, IlkeKavukcu, SalihTulay, PinarTosun, OzgurTuncel, GultenMocan, GamzeKale, HamdiUyguner, Zehra OyaAcar, AynurAltinay, MertErdem, Levent2024-10-032024-10-032022-01-311438-793Xhttps://doi.org/10.1007/s10142-021-00819-3https://link.springer.com/article/10.1007/s10142-021-00819-3https://hdl.handle.net/11452/45801Familial 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.eninfo:eu-repo/semantics/closedAccessFamilial mediterranean feverProtein ascKappa-bMutationsPyrinAutoinflammationAssociationsAmyloidosisPrevalenceActivationFamilial mediterranean feverGenotype-phenotype correlationsMefvNational genetics consortiumGenetics & heredityArticle00074844710000129131522310.1007/s10142-021-00819-3