title: The association of TNFRSF1A gene and MEFV gene mutations with adult onset Still's disease.
abstract: Adult 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 ± 14; mean disease duration 3.3 ± 2.3; mean age of the disease onset 35.1 ± 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.
authors.affiliation: Division of Rheumatology, Department of Internal Medicine, Faculty of Medicine, Kocaeli University, Umuttepe, 42000 Kocaeli, Turkey. fulcosan@gmail.com
authors.forename: Fulya
authors.initials: F
authors.lastname: Cosan
authors.forename: Zeliha
authors.initials: Z
authors.lastname: Emrence
authors.forename: Gokhan
authors.initials: G
authors.lastname: Erbag
authors.forename: Hulya
authors.initials: H
authors.lastname: Azakli
authors.forename: Baris
authors.initials: B
authors.lastname: Yilmazer
authors.forename: Ayten
authors.initials: A
authors.lastname: Yazici
authors.forename: Sema Sirma
authors.initials: SS
authors.lastname: Ekmekci
authors.forename: Neslihan
authors.initials: N
authors.lastname: Abaci
authors.forename: Duran
authors.initials: D
authors.lastname: Ustek
authors.forename: Ayse
authors.initials: A
authors.lastname: Cefle
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005091:Exons; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016017:Odds Ratio; D010641:Phenotype; D000071198:Pyrin; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics*; D012307:Risk Factors; D016706:Still's Disease, Adult-Onset / Q000235:genetics* / Q000276:immunology; D014421:Turkey
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin; D047888:Receptors, Tumor Necrosis Factor, Type I; C506235:TNFRSF1A protein, human