Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
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.
Anahtar kelimeler
Sürdürülebilir Kalkınma Amaçları
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SKA 16: Barış, Adalet ve Güçlü Kurumlar
Atıf için künye
DÜNDAR, M., FAHRİOGLU, U., Yildiz, S. H., Bakir-Gungor, B., TEMEL, Ş. G., AKIN, H., ARTAN, S., Cora, T., ŞAHİN, F. İ., DURSUN, A., Sezer, O., GÜRKAN, H., Erdogan, M., SEMERCİ GÜNDÜZ, C. N., BİŞGİN, A., ÖZDEMİR, Ö., ÜLGENALP, A., PERÇİN, F. E., YILDIRIM, M. E., … Erdem, L. (2022). Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium. FUNCTIONAL & INTEGRATIVE GENOMICS, 22(3), 291–315. https://doi.org/10.1007/s10142-021-00819-3
BibTeX
@article{dundar2022-233365,
author = {DÜNDAR, MUNİS and FAHRİOGLU, UMUT and Yildiz, Saliha Handan and Bakir-Gungor, Burcu and TEMEL, ŞEHİME GÜLSÜN and AKIN, HALUK and ARTAN, SEVİLHAN and Cora, Tulin and ŞAHİN, FERİDE İFFET and DURSUN, AHMET and Sezer, Ozlem and GÜRKAN, HAKAN and Erdogan, Murat and SEMERCİ GÜNDÜZ, CAVİDAN NUR and BİŞGİN, ATIL and ÖZDEMİR, ÖZTÜRK and ÜLGENALP, AYFER and PERÇİN, FERDA EMRİYE and YILDIRIM, MALİK EJDER and TEKEŞ, SELAHADDİN and BAĞIŞ, HAYDAR and YÜCE, HÜSEYİN and DUMAN, NİLGÜN and BOZKURT, GÖKAY and Yararbas, Kanay and YILDIRIM, MAHMUT SELMAN and ARMAN, AHMET and MIHÇI, ERCAN and Eraslan, Serpil and ALTINTAŞ, ZUHAL and Aymelek, Huri Sema and ILGIN RUHİ, HATİCE and Tatar, Abdulgani and Ergoren, Mahmut Cerkez and ÇETİN, GÖKHAN OZAN and Altunoglu, Umut and ÇAĞLAYAN, AHMET OKAY and Yuksel, Berrin and ÖZKUL, YUSUF and SAATÇİ, ÇETİN and Kenanoglu, Sercan and KARASU, NİLGÜN and Dundar, Bilge and ÖZÇELİK, FIRAT and DEMİR, MİKAİL and Siniksaran, Betul Seyhan and KULAK ABAY, HANDE and Kiranatlioglu, Kubra and BAYSAL, KÜBRA and KAZIMLI, ULVIYYA and AKALIN, HİLAL and Dundar, Ayca and Boz, Mehmet and Bayram, Arslan and SUBAŞIOĞLU, Aslı and ÇOLAK, Fatma and KARADUMAN, NESLİHAN and Gunes, Meltem Cerrah and KANDEMİR, NEFİSE and Aynekin, Busra and Emekli, Rabia and Sahin, Izem Olcay and ÖZDEMİR, Sevda Yeşim and ÖNAL, MÜGE GÜLCİHAN and ŞENEL, ABDURRAHMAN SONER and POYRAZOĞLU, MUAMMER HAKAN and PAÇ KISAARSLAN, AYŞENUR and GÜRSOY, ŞEBNEM and BAŞKOL, MEVLÜT and ÇALIŞ, MUSTAFA and DEMİR, HÜSEYİN and Zararsiz, Gozde Erturk and ÖZDEMİR ERDOĞAN, MÜJGAN and Elmas, Muhsin and Solak, Mustafa and Ulu, Memnune Sena and Thahir, Adam and AYDIN, ZAFER and Atasever, Umut and ÖZEMRİ SAĞ, ŞEBNEM and ALIYEVA, LAMIYA and ALEMDAR, ADEM and DOĞAN, BERKCAN and Erguzeloglu, Cemre Ornek and Kaya, Niyazi and ÖZKINAY, FERİŞTAH FERDA and ÇOĞULU, MUHSİN ÖZGÜR and DURMAZ, ASUDE and Onay, Huseyin and KARACA, EMİN and Durmaz, Burak and AYKUT, AYÇA and ÇİLİNGİR, OĞUZ and DURAK ARAS, BEYHAN and ERZURUMLUOĞLU GÖKALP, EBRU and Arslan, Serap and Temena, Arda and Haziyeva, Konul and KOCAGİL, SİNEM and BAŞ, HASAN and SUSAM, EZGİ and KEKLİKCİ, ALİ RIZA and Sarac, Elif and KOÇAK, NADİR and NERGİZ, SÜLEYMAN and TERZİ, YUNUS KASIM and Dincer, Selin Akad and Baskin, Esra Sidika and Genc, Gunes Cakmak and BAHADIR, Oğuzhan and Sanri, Aslihan and Yigit, Serbulent and TOZKIR, HİLMİ and YALÇINTEPE, SİNEM and Ozkayin, Nese and Kiraz, Aslihan and Balta, Burhan and Gonen, Gizem Akinci and KURT, EMİN EMRE and GÜLEÇ CEYLAN, GÜLAY and CEYLAN, AHMET CEVDET and ERTEN, ŞÜKRAN and TUĞ BOZDOĞAN, SEVCAN and BOĞA, İBRAHİM and YILMAZ, MUSTAFA and SILAN, FATMA and KOCABEY, MEHMET and KOÇ, ALTUĞ and ÇANKAYA, TUFAN and BORA, ELÇİN and GİRAY BOZKAYA, ÖZLEM and Ercal, Derya and ERGÜN, MEHMET ALİ and Ergun, Sezen Guntekin and SIDAR DUMAN, YEŞİM and BEYAZIT, ŞERİFE BÜŞRA and Uzel, Veysiye Hulya and EM, SERDA and ÇEVİK, MUHAMMER ÖZGÜR and Eroz, Recep and Demirtas, Mercan and FIRAT, CEM KORAY and Kabayegit, Zehra Manav and Altan, Mustafa and Mardan, Lamiya and Sayar, Ceyhan and Tumer, Sait and Turkgenc, Burcu and Karakoyun, Hilal Keskin and Tunc, Betul and Kuru, Seda and Zamani, Aysegul and GEÇKİNLİ, BİLGEN BİLGE and Ates, Esra Arslan and ALTIOK CLARK, ÖZDEN and TOYLU, ASLI and COŞKUN, MERT and NUR, BANU and Bilge, Ilmay and Bayramicli, Oya Uygur and EMMUNGİL, HAKAN and Komesli, Zeynep and Zeybel, Mujdat and Gurakan, Figen and Tasdemir, Mehmet and Kebudi, Rejin and KARABULUT, HALİL GÜRHAN and TUNCALI, TİMUR and KUTLAY, NÜKET and Yüce Kahraman, Çiğdem and Onder, Nerin Bahceciler and Beyitler, Ilke and KAVUKÇU, SALİH and Tulay, Pinar and TOSUN, ÖZGÜR and Tuncel, Gulten and Mocan, Gamze and Kale, Hamdi and Uyguner, Zehra Oya and Acar, Aynur and Altinay, Mert and Erdem, Levent},
title = {Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium},
journal = {FUNCTIONAL & INTEGRATIVE GENOMICS},
year = {2022},
volume = {22},
number = {3},
pages = {291--315},
issn = {1438-793X},
doi = {10.1007/s10142-021-00819-3},
url = {https://akademik.atauni.edu.tr/yayinlar/233365-clinical-and-molecular-evaluation-of-mefv-gene-variants-in-the-turkish}
}