Dundar Munis, Fahrioglu Umut, Yildiz Saliha Handan, Bakir-Gungor Burcu, Temel Sehime Gulsun, Akin Haluk, Artan Sevilhan, Cora Tulin, Sahin Feride Iffet, Dursun Ahmet, Sezer Ozlem, Gurkan Hakan, Erdogan Murat, Gunduz C Nur Semerci, Bisgin Atil, Ozdemir Ozturk, Ulgenalp Ayfer, Percin E Ferda, Yildirim Malik Ejder, Tekes Selahaddin, Bagis Haydar, Yuce Huseyin, Duman Nilgun, Bozkurt Gokay, Yararbas Kanay, Yildirim Mahmut Selman, Arman Ahmet, Mihci Ercan, Eraslan Serpil, Altintas Zuhal Mert, Aymelek Huri Sema, Ruhi Hatice Ilgin, Tatar Abdulgani, Ergoren Mahmut Cerkez, Cetin G Ozan, Altunoglu Umut, Caglayan Ahmet Okay, Yuksel Berrin, Ozkul Yusuf, Saatci Cetin, Kenanoglu Sercan, Karasu Nilgun, Dundar Bilge, Ozcelik Firat, Demir Mikail, Siniksaran Betul Seyhan, Kulak Hande, Kiranatlioglu Kubra, Baysal Kubra, Kazimli Ulviyya, Akalin Hilal, Dundar Ayca, Boz Mehmet, Bayram Arslan, Subasioglu Asli, Colak Fatma Kurt, Karaduman Neslihan, Gunes Meltem Cerrah, Kandemir Nefise, Aynekin Busra, Emekli Rabia, Sahin Izem Olcay, Ozdemir Sevda Yesim, Onal Muge Gulcihan, Senel Abdurrahman Soner, Poyrazoglu Muammer Hakan, Kisaarslan Ayse Nur Pac, Gursoy Sebnem, Baskol Mevlut, Calis Mustafa, Demir Huseyin, Zararsiz Gozde Erturk, Erdogan Mujgan Ozdemir, Elmas Muhsin, Solak Mustafa, Ulu Memnune Sena, Thahir Adam, Aydin Zafer, Atasever Umut, Sag Sebnem Ozemri, Aliyeva Lamiya, Alemdar Adem, Dogan Berkcan, Erguzeloglu Cemre Ornek, Kaya Niyazi, Ozkinay Ferda, Cogulu Ozgur, Durmaz Asude, Onay Huseyin, Karaca Emin, Durmaz Burak, Aykut Ayca, Cilingir Oguz, Aras Beyhan Durak, Gokalp Ebru Erzurumluoglu, Arslan Serap, Temena Arda, Haziyeva Konul, Kocagil Sinem, Bas Hasan, Susam Ezgi, Keklikci Ali Riza, Sarac Elif, Kocak Nadir, Nergiz Suleyman, Terzi Yunus Kasim, Dincer Selin Akad, Baskin Esra Sidika, Genc Gunes Cakmak, Bahadir Oguzhan, Sanri Aslihan, Yigit Serbulent, Tozkir Hilmi, Yalcintepe Sinem, Ozkayin Nese, Kiraz Aslihan, Balta Burhan, Gonen Gizem Akinci, Kurt E Emre, Ceylan Gulay Gulec, Ceylan Ahmet Cevdet, Erten Sukran, Bozdogan Sevcan Tug, Boga Ibrahim, Yilmaz Mustafa, Silan Fatma, Kocabey Mehmet, Koc Altug, Cankaya Tufan, Bora Elcin, Bozkaya Ozlem Giray, Ercal Derya, Ergun Mehmet Ali, Ergun Sezen Guntekin, Duman Yesim Sidar, Beyazit Serife Busra, Uzel Veysiye Hulya, Em Serda, Cevik Muhammer Ozgur, Eroz Recep, Demirtas Mercan, Firat Cem Koray, Kabayegit Zehra Manav, Altan Mustafa, Mardan Lamiya, Sayar Ceyhan, Tumer Sait, Turkgenc Burcu, Karakoyun Hilal Keskin, Tunc Betul, Kuru Seda, Zamani Aysegul, Geckinli Bilgen Bilge, Ates Esra Arslan, Clark Ozden Altiok, Toylu Asli, Coskun Mert, Nur Banu, Bilge Ilmay, Bayramicli Oya Uygur, Emmungil Hakan, Komesli Zeynep, Zeybel Mujdat, Gurakan Figen, Tasdemir Mehmet, Kebudi Rejin, Karabulut Halil Gurhan, Tuncali Timur, Kutlay Nuket Yurur, Kahraman Cigdem Yuce, Onder Nerin Bahceciler, Beyitler Ilke, Kavukcu Salih, Tulay Pinar, Tosun Ozgur, Tuncel Gulten, Mocan Gamze, Kale Hamdi, Uyguner Zehra Oya, Acar Aynur, Altinay Mert, Erdem Levent
Department of Medical Genetics, Faculty of Medicine, Erciyes University, Kayseri, 38039, Turkey.
Department of Medical Biology, Faculty of Medicine, Near East University, 99138, Nicosia, Cyprus.
Funct Integr Genomics. 2022 Jun;22(3):291-315. doi: 10.1007/s10142-021-00819-3. Epub 2022 Jan 31.
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.
家族性地中海热（FMF）是一种单基因自身炎症性疾病，主要特征为反复发热、腹痛、浆膜炎、关节表现、丹毒样红斑和肾脏并发症。它由地中海热（MEFV）基因突变引起，主要影响地中海血统的人，在土耳其、犹太、阿拉伯和亚美尼亚人群中发病率较高。随着我们对FMF的认识不断提高，越来越清楚的是，在其发病机制、外显率、变异类型（功能获得型与功能丧失型）和遗传方面，我们正面临着一幅更为复杂的FMF图景。在本研究中，我们将来自土耳其和北塞浦路斯35所大学和机构的27504例患者的MEFV基因分析结果和临床发现相结合，以便更好地洞察基因型与表型的相关性，以及特定变异如何导致FMF患者出现某些临床发现。我们的结果可能有助于更好地理解这种复杂疾病以及基因型有时如何影响表型。与文献中的许多研究不同，我们的研究调查了更广泛的症状谱以及基因型与表型数据之间的关系。从这个意义上说，我们旨在指导该领域的所有临床医生和学者，以便为患者更好地建立一个全面的数据集。我们研究的最大信息之一是，参与者某些临床和人口统计学数据缺乏一致性可能成为诊治FMF患者和理解这种复杂疾病的障碍。
