Abstract
Investigation of the relation between MEFV gene mutations and clinical findings of Behçet’s disease. Genetic features of 100 patients with Behçet’s disease (BD) and 100 healthy controls were analyzed. None of the individuals had a family history of FMF in the patient and control group, and none of the individuals in the control group had a family history of BD. MEFV gene analysis was performed in all the patients with BD and healthy controls; twelve different regions were scanned. In the BD group, mutations were detected in more than one region in 27 patients (27%). Twenty-five patients had heterozygous and two patients had compound heterozygous mutations (M680I-V726A and M694 V-A744S). The most frequent mutation was M694 V with an allelic frequency of 5%. The allelic frequencies of E148Q, M680I (G/C), and V726A were 3, 2, and 2%, respectively. The allelic frequencies of P369S, A744S, and K695R were 1, 1, and 0.5%. MEFV gene analysis revealed mutations in 27 (27%) of the individuals in the control group; the allelic frequency was 14%. The most frequent mutation was E148Q that was detected in 16 individuals. One individual was compound heterozygote (E148Q-M694 V). The allelic frequencies of E148Q, M694 V, V726A, and M680I were 8, 3, 1.5, and 0.5%, respectively. The allelic frequencies of K695R and P369S were 0.5 and 0.5%, respectively. The allelic frequency was similar in the two groups. There was not a significant relation between the mutations in the BD group and clinical findings.
Similar content being viewed by others
References
Behçet H (1937) Über rezidivierende aphthöse, durch ein virus verursachte Geschwure am mund, am auge und an den Genitalien. Dermatol Wochenschr 105:1152–1157
Yurdakul S, Hamuryudan V, Yazici H (2004) Behçet’s syndrome. Curr Opin Rheumatol 16(1):38–42
International FMF Consortium (1997) Ancient missense mutations in a new number of the Roret gene family cause familial Mediterranean fever. Cell 90:797–807
French FMF Consortium (1997) A candidate gene for familial Mediterranean fever. Nat Genet 17(1):25–31
Ben-Chetrit E, Cohen R, Chajek-Shaul T (2002) Familial Mediterranean fever and Behçet’s disease-are they associated? J Rheumatol 29(3):530–534
Birlik M, Tunca M, Hizli N, Soyturk M, Yenicerioglu Y, Ozcan MA et al (1998) Coexistence of familial Mediterranean fever with sacroiliitis and Behçet’s disease: a rare occurrence. Clin Rheumatol 17:397–399
Schwartz T, Langevitz P, Zemer D, Gazit E, Pras M, Livneh A (2000) Behçet’s disease in familial Mediterranean fever: characterization of the association between the two disease. Semin Arthr Rheum 29(5):286–295
Yazici H (2003) Behçet’s syndrome: an update. Curr Rheumatol Rep 5(3):195–199
Fresko I, Masatlioglu S, Melikoglu M et al (2000) The frequency of familial Mediterranean fever among patients with Behçet’s syndrome. Clin Exp Rheumatol 18: 300 (Abstract)
Touitou I, Magne X, Molinari N, Navarro A, Quellec AL, Picco P et al (2000) MEFV mutations in Behçet’s disease. Hum Mutat 16(3):271–272
Atagunduz P, Ergun T, Direskeneli H (2003) MEFV mutations are increased in Behçet’s disease (BD) anda re associated with vascular involvement. Clin Exp Rheumatol 21(Suppl. 30):35–37
Imirzalioglu N, Dursun A, Tastan B, Soysal Y, Yakicier MC (2005) MEFV gene is a probable susceptibility gene for Behçet’s disease. Scand J Rheumatol 34(1):56–58
Rabinovich E, Shinar Y, Leiba M, Ehrenfeld M, Langevitz P, Livneh A (2007) Common FMF alleles may predispose to development of Behçet’s disease with increased risk for venous thrombosis. Scand J Rheumatol 36(1):48–52
Ayesh S, Abuurmaileh H, Nassar S, Al-Shareef W, Abu-Libdeh B, Muhanna A et al (2008) Molecular analysis of MEFV gene mutation among Palestinian patients with Behçet’s disease. Scand J Rheumatol 37(5):370–374
Livneh A, Aksentijevich I, Langevitz P, Torosyan Y, G-Shoham N, Shinar Y et al (2001) A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet’s disease (FMF-BD). Eur J Hum Genet 9:191–196
International Study Group for Behçet’s Disease (1990) Criteria for diagnosis of Behçet’s disease. Lancet 335(8697):1078–1080
Tunca M, Akar S, Onen F, Ozdogan H, Kasapcopur O, Yalcinkaya F et al (2005) Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore) 84(1):1–11
Yilmaz E, Ozen S, Balci B, Duzova A, Topaloglu R, Besbas N et al (2001) Mutation frequency of familial Mediterranean fever and evidence for a high carrier rate in the Turkish population. Eur J Hum Genet 9:553–555
Stoffman N, Magal N, Shohat T, Lotan R, Komon S, Oron A et al (2000) Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups. Eur J Hum Genet 8:307–310
Conflict of interest
The authors declared that they have no conflict of interest.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Yazici, A., Cefle, A. & Savli, H. The frequency of MEFV gene mutations in behcet’s disease and their relation with clinical findings. Rheumatol Int 32, 3025–3030 (2012). https://doi.org/10.1007/s00296-011-2011-y
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00296-011-2011-y