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Evaluating MEFV mutation frequency in Turkish familial Mediterranean fever suspected patients and gender correlation: a retrospective study

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Familial Mediterranean fever (FMF) is the most frequent hereditary inflammatory disease. FMF causes different clinical manifestations in different ethnic groups and countries. In this study, we retrospectively reviewed the records of 1,152 FMF suspected patients (673 female and 479 male) from November 2006 to December 2010. A commercial kit assay for the identification of MEFV (Mediterranean fever) gene mutations based on PCR and reverse-hybridization was used to investigate 12 mutations of the MEFV gene. 52.17% of 1,152 FMF suspected patients had MEFV mutation and 45.25% of them were male. The rate of MEFV mutation among male and female patients were 56.78 and 48.88%, respectively. These results were statistically significant and might support the suggestion that FMF had much more penetrance in male patients (P = 0.009). Not any significant difference was observed between the male and female patients in terms of heterozygote and homozygote mutation carriage rate (P = 0.071). Also not any significant difference was observed between the male and female patients in terms of compound heterozygote mutation carriage rate (P = 0.058).

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  1. Ben-Chetrit E, Touitou İ (2009) Familial Mediterranean fever in the world. Arthritis Rheum 61(10):1447–1453

    Article  PubMed  CAS  Google Scholar 

  2. Yilmaz E, Ozen S, Balcı B, Duzova A, Topaloglu R, Besbas N, Saatci U, Bakkaloglu A, Ozguc M (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

    Article  PubMed  CAS  Google Scholar 

  3. Onen F (2006) Familial Mediterranean fever. Rheumatol Int 26:489–496

    Article  PubMed  Google Scholar 

  4. Ureten K, Gönülalan G, Akbal E, Güneş F, Akyürek Ö, Ozbek M, Oztürk AM (2010) Demographic, clinical and mutational characteristics of Turkish familial Mediterranean fever patients: results of a single center in Central Anatolia. Rheumatol Int 30:911–915

    Article  PubMed  Google Scholar 

  5. Cosan F, Ustek D, Oku B, Duymaz-Tozkir J, Cakiris A, Abaci N, Ocal L, Aral O, Gül A (2010) Association of familial Mediterranean fever-related MEFV variations with ankylosing spondylitis. Arthritis Rheum 62(11):3232–3236

    Article  PubMed  Google Scholar 

  6. Celik S, Erikci AA, Tunca Y, Sayan O, Terekeci HM, Umur EE, Torun D, Tangi F, Top C, Oktenli C (2010) The rate of MEFV gene mutations in hematolymphoid neoplasms. Int J Immunogenet 37(5):387–391

    Article  PubMed  CAS  Google Scholar 

  7. Eisenberg S, Aksentıjevich I, Deng Z, Kastner D, Matzner Y (1998) Diagnosis of familial Mediterranean fever by a molecular genetic method. Ann Intern Med 129:539–542

    PubMed  CAS  Google Scholar 

  8. Ben-Chetrit E, Shoval-Urieli S, Calko S, Abeliovich D, Matzner Y (2002) Molecular diagnosis of FMF: lessons from a study of 446 unrelated individuals. Clin Exp Rheumatol 20(26):25–29

    Google Scholar 

  9. Ozdemir O, Sezgin I, Kurtulgan KH et al (2011) Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers. Mol Biol Rep 38:3195–3200. doi:10.1007/s1103301099917

    Article  PubMed  CAS  Google Scholar 

  10. Dundar M, Emiroğulları FE, Aslihan Kiraz, Taheri S, Baskol M (2011) Common familial Mediterranean fever gene mutations in a Turkish cohort. Mol Bio Rep 38:5065–5069. doi:10.1007/s11033-010-0652-7

    Article  CAS  Google Scholar 

  11. Akin H, Onay H, Turker E, Cogulu O, Ozkinay F (2010) MEFV mutations in patients with familial Mediterranean fever from the Aegean region of Turkey. Mol Bio Rep 37:93–98. doi:10.1007/s11033-009-9543-1

    Article  CAS  Google Scholar 

  12. Touitou İ (2001) The spectrum of Familial Mediterranean Fever (FMF) mutations. Eur J Hum Genet 9:473–483

    Article  PubMed  CAS  Google Scholar 

  13. Yalcinkaya F, Cakar N, Misirlioglu M et al (2000) Genotype–phenotype correlation in a large group of Turkish patients with familial Mediterranean fever: evidence for mutation-independent amyloidosis. Rheumatology 39:67–72

    Article  PubMed  CAS  Google Scholar 

  14. Sayarlıoglu M, Cefle A, Inanç M et al (2005) Characteristics of patients with adult-onset familial Mediterranean in Turkey: analysis of 401 cases. Int J Clin Pract 2:202–205

    Article  Google Scholar 

  15. Dusunsel R, Dursun I, Gündüz Z, Poyrazoğlu HM, Gürgöze KM, Dundar M (2008) Genotype–phenotype correlation in children with familial Mediterranean fever in a Turkish population. Pediatr Int 50:208–212

    Article  PubMed  CAS  Google Scholar 

  16. Bakarat MH, Karnick AM, Majeed HWA, El-Sobki NI, Fenech FF (1986) Familial Mediterranean fever recurrent hereditary polyserositis in Arabs: a study of 175 patients and review of the literature. Q J Med 60:837–847

    Google Scholar 

  17. Rogers D, Shohat M, Peterson GM et al (1989) Familial Mediterranean fever in Armenians. Am J Hum Genet 34:168–172

    CAS  Google Scholar 

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Correspondence to H. Okan Doğan.

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Doğan, H.O., Koca, Y., Erden, G. et al. Evaluating MEFV mutation frequency in Turkish familial Mediterranean fever suspected patients and gender correlation: a retrospective study. Mol Biol Rep 39, 6193–6196 (2012).

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