Clinical and molecular evaluation of <i>MEFV</i> gene variants in the Turkish population: a study by the National Genetics Consortium
Makaleler > Tam Makale · 2022
Yazarlar: Munis Dundar, Umut Fahrioglu, Saliha Handan Yildiz, Burcu Bakir-Gungor, Sehime Gulsun Temel, Haluk AKIN, Sevilhan Artan, Tulin Cora, Feride Iffet Sahin, Ahmet Dursun, Ozlem Sezer, Hakan Gurkan, Murat Erdogan, Cumhur GÜNDÜZ, Atil Bisgin, Ozturk Ozdemir, Ayfer Ulgenalp, E. Ferda Percin, Malik Ejder Yildirim, Selahaddin Tekes, Haydar Bagis, Huseyin Yuce, Nilgun Duman, Gokay Bozkurt, Kanay Yararbas, Mahmut Selman Yildirim, Ahmet Arman, Ercan Mihci, Serpil Eraslan, Zuhal Mert Altintas, Huri Sema Aymelek, Hatice Ilgin Ruhi, Abdulgani Tatar, Mahmut Cerkez Ergoren, G. Ozan Cetin, Umut Altunoglu, Ahmet Okay Caglayan, Berrin Yuksel, Yusuf Ozkul, Cetin Saatci, Sercan Kenanoglu, Nilgun Karasu, Bilge Dundar, Firat Ozcelik, Mikail Demir, Betul Seyhan Siniksaran, Hande Kulak, Kubra Kiranatlioglu, Kubra Baysal, Ulviyya Kazimli, Hilal Akalin, Ayca Dundar, Mehmet Boz, Arslan Bayram, Asli Subasioglu, Fatma Kurt Colak, Neslihan Karaduman, Meltem Cerrah Gunes, Nefise Kandemir, Busra Aynekin, Rabia Emekli, Izem Olcay Sahin, Sevda Yesim Ozdemir, Muge Gulcihan Onal, Abdurrahman Soner Senel, Muammer Hakan Poyrazoglu, Ayse Nur Pac Kisaarslan, Sebnem Gursoy, Mevlut Baskol, Mustafa Calis, Huseyin Demir, Gozde Erturk Zararsiz, Mujgan Ozdemir Erdogan, Muhsin Elmas, Mustafa Solak, Memnune Sena Ulu, Adam Thahir, Zafer Aydin, Umut Atasever, Sebnem Ozemri Sag, Lamiya Aliyeva, Adem Alemdar, Berkcan Dogan, Cemre Ornek Erguzeloglu, Niyazi Kaya, Ferda Ozkinay, Muhsin Özgür ÇOĞULU, Asude DURMAZ, Huseyin Onay, Emin Karaca, Mehmet Burak DURMAZ, Ayça AYKUT, Oguz Cilingir, Beyhan Durak Aras, Ebru Erzurumluoglu Gokalp, Serap Arslan, Arda Temena, Konul Haziyeva, Sinem Kocagil, Hasan Bas
FUNCTIONAL & INTEGRATIVE GENOMICS, SCI İndekslerine Giren Dergi, Uluslararası, Wos, 2022, cilt 22, ss 291-315
DOI: 10.1007/s10142-021-00819-3
Özet
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.