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dc.contributor.authorEkmekci, Sema Sirma
dc.contributor.authorUstek, Duran
dc.contributor.authorAzakli, Hulya
dc.contributor.authorYazıcı, Ayten
dc.contributor.authorAbaci, Neslihan
dc.contributor.authorYilmazer, Baris
dc.contributor.authorÇefle, Ayşe
dc.contributor.authorCosan, Fulya
dc.contributor.authorErbag, Gokhan
dc.contributor.authorEmrence, Zeliha
dc.date.accessioned2020-08-13T07:41:43Z
dc.date.available2020-08-13T07:41:43Z
dc.date.issued2013
dc.identifier.citationCosan F., Emrence Z., Erbag G., Azakli H., Yilmazer B., Yazıcı A., Ekmekci S. S. , Abaci N., Ustek D., Çefle A., "The Association Of Tnfrsf1A Gene And Mefv Gene Mutations With Adult Onset Still'S Disease", Rheumatology Internatıonal, Vol.33, Pp.1675-1680, 2013
dc.identifier.issn0172-8172
dc.identifier.urihttp://hdl.handle.net/20.500.12627/651
dc.description.abstractAdult onset Still's disease (ASD) is a systemic inflammatory disorder of unknown etiology. ASD is characterized by fever with unknown etiology, rash, arthritis, and involvement of several organ systems. FMF and TRAPS are two important autoinflammatory diseases which characterized with recurrent inflammatory attacks. We aimed in this study to investigate the MEFV gene and TNFRSF1A gene variations in ASD. Twenty consecutive Turkish ASD patients (14 female and 6 male; mean age 38.45 +/- A 14; mean disease duration 3.3 +/- A 2.3; mean age of the disease onset 35.1 +/- A 14.4) and 103 healthy controls of Turkish origin were analyzed. All ASD patients were genotyped for the 4 MEFV mutations (M694V, E148Q, V726A, M680I) and TNFRSF1A gene exon 2-3 and exon 4-5 by using sequence analysis. The healthy controls are genotyped using PCR-RFLP method for intron 4 variation. The results of MEFV gene mutations screening show an increase in the MEFV mutation rate in ASD group, but it was not significantly different (p = 0.442, OR 1.64, 95 % CI 0.409-6.589). T-C polymorphism (rs1800692) was the only variation in the intron 4 of TNFRSF1A gene that we observed at the ASD patients. The frequency of TT genotype was 15 %, TC: 45 %, and CC: 40 % in ASD patients and the frequencies were 22, 41, and 37 % in healthy controls, respectively. When we analyzed the allele difference between both groups, there was no difference (p = 0.54, OR 1.24, 0.619-2.496-2.654). The variations in MEFV may have role in ASD pathogenesis. Our findings suggest that there is no significant association between ASD and TNFRSF1A variations.
dc.language.isoeng
dc.subjectRheumatology
dc.titleThe association of TNFRSF1A gene and MEFV gene mutations with adult onset Still's disease
dc.typearticle
dc.contributor.departmentAziz Sancar Deneysel Tıp Araştırma Enstitüsü,Genetik,Genetik Anabilim Dalı
dc.contributor.authorID0000-0002-9962-4010; 0000-0003-4809-6366
dc.identifier.volume33
dc.identifier.issue7
dc.identifier.startpage1675
dc.identifier.endpage1680


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