Skip to main content


The frequency of MEFV gene variations in Adult-onset Still's disease and Gout

  • 646 Accesses


Adult onset-Still's disease (AOSD) and gout are considered as auto-inflammatory disorders. Both diseases run recurrent episodic course and respond to anti-IL 1 treatment. Additionally, increased frequency of MEFV variations in other inflammatory diseases other than FMF such as Behçet's disease, ulcerative colitis and rheumatoid arthritis and raises the possibility that MEFV gene may play a general role in the inflammatory pathway. Therefore in this study, we explored the MEFV exon 2 and 10 variations in a group of AOSD and gout patients and compared the frequencies between disease groups and healthy controls.

Patients and methods

We studied all consecutive 42 patients with FMF (mean age: 33.3 ± 15.2), 28 patients with adult onset Still's disease (mean age: 37.9±8.4), 29 patients with gout (mean age: 50.3 ± 9.7), and 44 healthy controls (mean age: 33.6±10.2).

Genomic DNA was isolated from venous blood, using basic salting-out technique. PCR amplifications were done in three sets of primers covering exon 2 and exon 10 regions. Gel purified products were Sanger sequenced and chromatograms were analysed using Genious Software by two independent researchers. MEFV variation frequencies were calculated using chi-square analysis.


The frequency of common exon 2 variation E148Q was found to be similar between the study groups (FMF: 5%, AOSD: 4%, gout: 3% and healthy controls: 3%). In exon 2, only R202Q variation was significantly more frequent in FMF group (43%) compared to other groups (18-25%) (P=0.004).

There was also significant difference in pathogenic exon 10 variations between FMF and other groups. The most prominent of these variations, M694V, was significantly more common in FMF group (49%), compared to AOSD (2%), gout (7 %) and healthy controls (1 %) (P<0.0001). The frequency of non-synonymous variations such as D102D-G138G-A165A, the common haplotype, was more likely to be more common in FMF group (66%) compared to AOSD (22%), gout (30%) and healthy controls (38%) (p< 0.05).


AOSD and gout do not seem to be associated with MEFV gene mutations.

Author information

Correspondence to S Ugurlu or E Seyahi.

Rights and permissions

This article is published under an open access license. Please check the 'Copyright Information' section for details of this license and what re-use is permitted. If your intended use exceeds what is permitted by the license or if you are unable to locate the licence and re-use information, please contact the Rights and Permissions team.

About this article

Verify currency and authenticity via CrossMark

Cite this article

Ugurlu, S., Emekli, A., Turanli, E.T. et al. The frequency of MEFV gene variations in Adult-onset Still's disease and Gout. Pediatr Rheumatol 13, P15 (2015).

Download citation


  • Rheumatoid Arthritis
  • Ulcerative Colitis
  • Gout
  • Common Haplotype
  • General Role