Mediterranean Fever Gene Mutations and Messenger Ribonucleic Acid Expressions in Pediatric Patients With Familial Mediterranean Fever in the Trakya Region of Turkey

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dc.authoridGürkan, Hakan/0000-0002-8967-6124
dc.authorwosidGürkan, Hakan/AAF-2866-2020
dc.contributor.authorTozkir, Hilmi
dc.contributor.authorGusrkan, Hakan
dc.contributor.authorOzkayin, Nese
dc.contributor.authorSut, Necdet
dc.date.accessioned2024-06-12T11:01:46Z
dc.date.available2024-06-12T11:01:46Z
dc.date.issued2014
dc.departmentTrakya Üniversitesien_US
dc.description.abstractObjectives: This study aims to investigate the possible relationship between Mediterranean fever (MEFV) gene mutations and messenger ribonucleic acid (mRNA) expressions and to identify the link between phenotype and genotype of pediatric patients with Familial Mediterranean fever (FMF). Patients and methods: Seventy-one pediatric FMF patients who were identified with FMF symptoms and diagnosed with FMF according to Tel Hashomer criteria were included at Trakya University, Faculty of Medicine, Department of Paediatric Nephrology. The control group consisted of 73 healthy pediatric participants. Genomic deoxyribonucleic acid was isolated from whole blood samples and the following mutations of MFEV gene were analyzed: E148Q, P369S, H478Y, H479L, S675N, G678E, M680L, M680I (G>A and G>C), T681I, I692del, M694V, M694L, M694I, M695R, M695M, R717S, I720M, V722M, V726A, A744S and R761H. Total RNA isolation from leukocytes was performed and MEFV mRNA expression levels of the patients were compared by using real-time quantitative polymerase chain reaction method. beta 2 microglobulin was selected as the control gene. The comparison of mRNA expression levels among the patients was performed using the Delta CT method. Results: The most common clinical findings were abdominal pain, fever and vomiting. The mutation detection rate in the patient group was OR=4.1 (95% CI: 1.8-9.0) times higher than that of the control group. The MEFV mRNA expression level of the patients with MEFV gene mutations was lower compared to the control group, indicating statistical significance. Conclusion: Our study results support the findings of previous studies indicating that the MEFV mRNA expression levels of pediatric FMF patients with MEFV gene mutation are lower than the MEFV mRNA expression levels of healthy controls.en_US
dc.description.sponsorshipTrakya University Scientific Research Projects Unit [TUBAP 2009-129]en_US
dc.description.sponsorshipThis study is supported by Trakya University Scientific Research Projects Unit (TUBAP 2009-129)en_US
dc.identifier.doi10.5606/ArchRheumatol.2014.3622
dc.identifier.endpage125en_US
dc.identifier.issn2148-5046
dc.identifier.issn1309-0283
dc.identifier.issue2en_US
dc.identifier.scopus2-s2.0-84903517311en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage118en_US
dc.identifier.trdizinid168353en_US
dc.identifier.urihttps://doi.org/10.5606/ArchRheumatol.2014.3622
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/168353
dc.identifier.urihttps://hdl.handle.net/20.500.14551/21016
dc.identifier.volume29en_US
dc.identifier.wosWOS:000209741200007en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isoenen_US
dc.publisherTurkish League Against Rheumatismen_US
dc.relation.ispartofArchives Of Rheumatologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectFamilial Mediterranean Feveren_US
dc.subjectInflammationen_US
dc.subjectMessenger Ribonucleic Aciden_US
dc.subjectMutationen_US
dc.subjectAssociationen_US
dc.subjectFmfen_US
dc.subjectSpectrumen_US
dc.subjectRnaen_US
dc.titleMediterranean Fever Gene Mutations and Messenger Ribonucleic Acid Expressions in Pediatric Patients With Familial Mediterranean Fever in the Trakya Region of Turkeyen_US
dc.typeArticleen_US

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