Original Article

Rheumatology International

, Volume 33, Issue 7, pp 1675-1680

First online:

The association of TNFRSF1A gene and MEFV gene mutations with adult onset Still’s disease

  • Fulya CosanAffiliated withDivision of Rheumatology, Department of Internal Medicine, Faculty of Medicine, Kocaeli UniversityDivision of Genetics, Institute for Experimental Medical Research, Istanbul University Email author 
  • , Zeliha EmrenceAffiliated withDivision of Genetics, Institute for Experimental Medical Research, Istanbul University
  • , Gokhan ErbagAffiliated withDivision of Rheumatology, Department of Internal Medicine, Faculty of Medicine, Kocaeli University
  • , Hulya AzakliAffiliated withDivision of Genetics, Institute for Experimental Medical Research, Istanbul University
  • , Baris YilmazerAffiliated withDivision of Rheumatology, Department of Internal Medicine, Faculty of Medicine, Kocaeli University
  • , Ayten YaziciAffiliated withDivision of Rheumatology, Department of Internal Medicine, Faculty of Medicine, Kocaeli University
  • , Sema Sirma EkmekciAffiliated withDivision of Genetics, Institute for Experimental Medical Research, Istanbul University
  • , Neslihan AbaciAffiliated withDivision of Genetics, Institute for Experimental Medical Research, Istanbul University
  • , Duran UstekAffiliated withDivision of Genetics, Institute for Experimental Medical Research, Istanbul University
    • , Ayse CefleAffiliated withDivision of Rheumatology, Department of Internal Medicine, Faculty of Medicine, Kocaeli University

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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.

Keywords

Adult onset Still’s disease Familial Mediterranean fever TRAPS TNFRSF1A gene MEFV gene