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Volumn 77, Issue 1, 2010, Pages 32-35

Prevalence and significance of MEFV gene mutations in a cohort of patients with rheumatoid arthritis

Author keywords

Familial Mediterranean fever; MEFV gene mutations; Rheumatoid arthritis

Indexed keywords

C REACTIVE PROTEIN; GENOMIC DNA;

EID: 73449102470     PISSN: 1297319X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jbspin.2009.08.006     Document Type: Article
Times cited : (38)

References (40)
  • 2
    • 59149100653 scopus 로고    scopus 로고
    • MEFV mutations in Japanese rheumatoid arthritis patients
    • Migita K., Nakamura T., Maeda Y., et al. MEFV mutations in Japanese rheumatoid arthritis patients. Clin Exp Rheumatol 26 (2008) 1091-1094
    • (2008) Clin Exp Rheumatol , vol.26 , pp. 1091-1094
    • Migita, K.1    Nakamura, T.2    Maeda, Y.3
  • 3
    • 21344474580 scopus 로고    scopus 로고
    • Severe disease in patients with rheumatoid arthritis carrying a mutation in the Mediterranean fever gene
    • Rabinovich E., Livneh A., Langevitz P., et al. Severe disease in patients with rheumatoid arthritis carrying a mutation in the Mediterranean fever gene. Ann Rheum Dis 64 (2005) 1009-1014
    • (2005) Ann Rheum Dis , vol.64 , pp. 1009-1014
    • Rabinovich, E.1    Livneh, A.2    Langevitz, P.3
  • 4
    • 0031897168 scopus 로고    scopus 로고
    • Familial Mediterranean fever clinical and genetic features in druzes and in Iraqi jews: a preliminary study
    • Touitou I., Ben-Chetrit E., Notarnicola C., et al. Familial Mediterranean fever clinical and genetic features in druzes and in Iraqi jews: a preliminary study. J Rhumatol 25 (1998) 916-919
    • (1998) J Rhumatol , vol.25 , pp. 916-919
    • Touitou, I.1    Ben-Chetrit, E.2    Notarnicola, C.3
  • 5
    • 0031977279 scopus 로고    scopus 로고
    • Assessment of Pyrin gene mutations in Turks with familial Mediterranean fever (FMF)
    • Chen X., Fischel-Ghodsian N., Cercek A., et al. Assessment of Pyrin gene mutations in Turks with familial Mediterranean fever (FMF). Hum Mutat 11 (1998) 456-460
    • (1998) Hum Mutat , vol.11 , pp. 456-460
    • Chen, X.1    Fischel-Ghodsian, N.2    Cercek, A.3
  • 6
    • 6344280348 scopus 로고    scopus 로고
    • Increased frequency of familial Mediterranean fever in Central Anatolia, Turkey
    • Onen F., Sumer H., Turkay S., et al. Increased frequency of familial Mediterranean fever in Central Anatolia, Turkey. Clin Exp Rheumatol 22 (2004) S31-S33
    • (2004) Clin Exp Rheumatol , vol.22
    • Onen, F.1    Sumer, H.2    Turkay, S.3
  • 7
    • 6344258644 scopus 로고    scopus 로고
    • The prevalence of familial Mediterranean fever in the Turkish province of Denizli: a field study with a zero patient design
    • Cobankara V., Fidan G., Türk T., et al. The prevalence of familial Mediterranean fever in the Turkish province of Denizli: a field study with a zero patient design. Clin Exp Rheumatol 22 (2004) S27-S30
    • (2004) Clin Exp Rheumatol , vol.22
    • Cobankara, V.1    Fidan, G.2    Türk, T.3
  • 8
    • 38149055646 scopus 로고    scopus 로고
    • MEFV mutations in patients with familial Mediterranean fever in the Black Sea region of Turkey: Samsun experience
    • [corrected]
    • Yigit S., Bagci H., Ozkaya O., et al. MEFV mutations in patients with familial Mediterranean fever in the Black Sea region of Turkey: Samsun experience. J Rheumatol 35 (2008) 106-113 [corrected]
    • (2008) J Rheumatol , vol.35 , pp. 106-113
    • Yigit, S.1    Bagci, H.2    Ozkaya, O.3
  • 9
    • 0034879079 scopus 로고    scopus 로고
    • Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population
    • Yilmaz E., Ozen S., Balci B., et al. Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population. Eur J Hum Genet 9 (2001) 553-555
    • (2001) Eur J Hum Genet , vol.9 , pp. 553-555
    • Yilmaz, E.1    Ozen, S.2    Balci, B.3
  • 10
    • 33744762729 scopus 로고    scopus 로고
    • Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations
    • Lachmann H.J., Sengül B., Yavuzşen T.U., et al. Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations. Rheumatology (Oxford) 45 (2006) 746-750
    • (2006) Rheumatology (Oxford) , vol.45 , pp. 746-750
    • Lachmann, H.J.1    Sengül, B.2    Yavuzşen, T.U.3
  • 11
    • 0036922638 scopus 로고    scopus 로고
    • The significance of paired MEFV mutations in individuals without symptoms of familial Mediterranean fever
    • Tunca M., Akar S., Hawkins P.N., et al. The significance of paired MEFV mutations in individuals without symptoms of familial Mediterranean fever. Eur J Hum Genet 10 (2002) 786-789
    • (2002) Eur J Hum Genet , vol.10 , pp. 786-789
    • Tunca, M.1    Akar, S.2    Hawkins, P.N.3
  • 12
    • 0026653798 scopus 로고
    • Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16
    • Pras E., Aksentijevich I., Gruberg L., et al. Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16. N Engl J Med 326 (1992) 1509-1513
    • (1992) N Engl J Med , vol.326 , pp. 1509-1513
    • Pras, E.1    Aksentijevich, I.2    Gruberg, L.3
  • 13
    • 16944365196 scopus 로고    scopus 로고
    • A candidate gene for familial Mediterranean fever
    • The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 17 (1997) 25-31
    • (1997) Nat Genet , vol.17 , pp. 25-31
    • The French FMF Consortium1
  • 14
    • 34547138176 scopus 로고    scopus 로고
    • The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing
    • Papin S., Cuenin S., Agostini L., et al. The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing. Cell Death Differ 14 (2007) 1457-1466
    • (2007) Cell Death Differ , vol.14 , pp. 1457-1466
    • Papin, S.1    Cuenin, S.2    Agostini, L.3
  • 15
    • 0033625291 scopus 로고    scopus 로고
    • Behçet's disease in Familial Mediterranean fever: characterization of the association between the two diseases
    • Schwartz T., Langevitz P., Zemer D., et al. Behçet's disease in Familial Mediterranean fever: characterization of the association between the two diseases. Semin Arthritis Rheum 29 (2000) 286-295
    • (2000) Semin Arthritis Rheum , vol.29 , pp. 286-295
    • Schwartz, T.1    Langevitz, P.2    Zemer, D.3
  • 16
    • 0034268002 scopus 로고    scopus 로고
    • MEFV Mutations in Behçet's disease
    • Touitou I., Magne X., Molinari N., et al. MEFV Mutations in Behçet's disease. Hum Mutat 16 (2000) 271-272
    • (2000) Hum Mutat , vol.16 , pp. 271-272
    • Touitou, I.1    Magne, X.2    Molinari, N.3
  • 17
    • 15944398723 scopus 로고    scopus 로고
    • MEFV gene is a probable susceptibility gene for Behçet's disease
    • Imirzalioglu N., Dursun A., Tastan B., et al. MEFV gene is a probable susceptibility gene for Behçet's disease. Scand J Rheumatol 34 (2005) 56-58
    • (2005) Scand J Rheumatol , vol.34 , pp. 56-58
    • Imirzalioglu, N.1    Dursun, A.2    Tastan, B.3
  • 18
    • 0043195798 scopus 로고    scopus 로고
    • Mutations in the gene for familial Mediterranean fever: do they predispose to inflammation?
    • Ozen S., Bakkaloglu A., Yilmaz, et al. Mutations in the gene for familial Mediterranean fever: do they predispose to inflammation?. J Rheumatol 30 (2003) 2014-2018
    • (2003) J Rheumatol , vol.30 , pp. 2014-2018
    • Ozen, S.1    Bakkaloglu, A.2    Yilmaz3
  • 19
    • 34547748859 scopus 로고    scopus 로고
    • An unexpectedly high frequency of MEFV mutations in patients with anti-citrullinated protein antibody-negative palindromic rheumatism
    • Cañete J.D., Arostegui J.I., Queiró R., et al. An unexpectedly high frequency of MEFV mutations in patients with anti-citrullinated protein antibody-negative palindromic rheumatism. Arthritis Rheum 56 (2007) 2784-2788
    • (2007) Arthritis Rheum , vol.56 , pp. 2784-2788
    • Cañete, J.D.1    Arostegui, J.I.2    Queiró, R.3
  • 20
    • 67349174682 scopus 로고    scopus 로고
    • Clinical significance of MEFV mutations in ankylosing spondylitis
    • Durmus D., Alayli G., Cengiz K., et al. Clinical significance of MEFV mutations in ankylosing spondylitis. Joint Bone Spine 76 (2009) 260-264
    • (2009) Joint Bone Spine , vol.76 , pp. 260-264
    • Durmus, D.1    Alayli, G.2    Cengiz, K.3
  • 21
    • 0034728080 scopus 로고    scopus 로고
    • Inflammatory bowel disease in non-Ashkenazi Jews with Familial Mediterranean fever
    • Cattan D., Notarnicola C., Molinari N., et al. Inflammatory bowel disease in non-Ashkenazi Jews with Familial Mediterranean fever. Lancet 355 (2000) 378-379
    • (2000) Lancet , vol.355 , pp. 378-379
    • Cattan, D.1    Notarnicola, C.2    Molinari, N.3
  • 22
    • 33746257521 scopus 로고    scopus 로고
    • Inflammatory/demyelinating central nervous system involvement in familial Mediterranean fever (FMF): coincidence or association?
    • Akman-Demir G., Gul A., Gurol E., et al. Inflammatory/demyelinating central nervous system involvement in familial Mediterranean fever (FMF): coincidence or association?. J Neurol 253 (2006) 928-934
    • (2006) J Neurol , vol.253 , pp. 928-934
    • Akman-Demir, G.1    Gul, A.2    Gurol, E.3
  • 23
    • 0023945481 scopus 로고
    • The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis
    • Arnett F.C., Edworthy S.M., Bloch D.A., et al. The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum 31 (1988) 315-324
    • (1988) Arthritis Rheum , vol.31 , pp. 315-324
    • Arnett, F.C.1    Edworthy, S.M.2    Bloch, D.A.3
  • 24
    • 13444263261 scopus 로고    scopus 로고
    • Disease activity measurement of rheumatoid arthritis: Comparison of the simplified disease activity index (SDAI) and the disease activity score including 28 joints (DAS28) in daily routine
    • Leeb B.F., Andel I., Sautner J., et al. Disease activity measurement of rheumatoid arthritis: Comparison of the simplified disease activity index (SDAI) and the disease activity score including 28 joints (DAS28) in daily routine. Arthritis Rheum 53 (2005) 56-60
    • (2005) Arthritis Rheum , vol.53 , pp. 56-60
    • Leeb, B.F.1    Andel, I.2    Sautner, J.3
  • 25
    • 5044222307 scopus 로고    scopus 로고
    • Assessing damage in individual joints in rheumatoid arthritis: a new method based on the Larsen system
    • Zangger P., Kachura J.R., Bombardier C., et al. Assessing damage in individual joints in rheumatoid arthritis: a new method based on the Larsen system. Joint Bone Spine 71 (2004) 389-396
    • (2004) Joint Bone Spine , vol.71 , pp. 389-396
    • Zangger, P.1    Kachura, J.R.2    Bombardier, C.3
  • 26
    • 0032190074 scopus 로고    scopus 로고
    • Diagnosis of familial Mediterranean fever by a molecular genetics method
    • Eisenberg S., Aksentijevich I., Deng Z., et al. Diagnosis of familial Mediterranean fever by a molecular genetics method. Ann Intern Med 129 (1998) 539-542
    • (1998) Ann Intern Med , vol.129 , pp. 539-542
    • Eisenberg, S.1    Aksentijevich, I.2    Deng, Z.3
  • 27
    • 0034164558 scopus 로고    scopus 로고
    • Genetic screening of fourteen MUtations in Jordanian Familial Mediterranean Fever patients
    • Medlej-Hashim M., Rawashdeh M., Chouery E., et al. Genetic screening of fourteen MUtations in Jordanian Familial Mediterranean Fever patients. Hum Mutat 15 (2000) 384
    • (2000) Hum Mutat , vol.15 , pp. 384
    • Medlej-Hashim, M.1    Rawashdeh, M.2    Chouery, E.3
  • 28
    • 4544341107 scopus 로고    scopus 로고
    • The PYRIN connection: novel players in innate immunity and inflammation
    • Stehlik C., and Reed J.C. The PYRIN connection: novel players in innate immunity and inflammation. J Exp Med 200 (2004) 551-558
    • (2004) J Exp Med , vol.200 , pp. 551-558
    • Stehlik, C.1    Reed, J.C.2
  • 29
    • 0000194347 scopus 로고    scopus 로고
    • Pyrin E148Q is prevalent globally and may upregulate the inflammatory response non-specifically. Abstracts of the familial Mediterranean fever II international conference, 3-7 May 2000, Antalya, Turkey
    • Hawkins P.N., Gillmore J.D., Booth S.E., et al. Pyrin E148Q is prevalent globally and may upregulate the inflammatory response non-specifically. Abstracts of the familial Mediterranean fever II international conference, 3-7 May 2000, Antalya, Turkey. Clin Exp Rheumatol 18 (2000) A-4
    • (2000) Clin Exp Rheumatol , vol.18
    • Hawkins, P.N.1    Gillmore, J.D.2    Booth, S.E.3
  • 30
    • 0344609221 scopus 로고    scopus 로고
    • Acute phase response and evolution of Familial Mediterranean fever
    • Tunca M., Kirkali G., Soyturk M., et al. Acute phase response and evolution of Familial Mediterranean fever. Lancet 353 (1999) 1415
    • (1999) Lancet , vol.353 , pp. 1415
    • Tunca, M.1    Kirkali, G.2    Soyturk, M.3
  • 31
    • 12344314454 scopus 로고    scopus 로고
    • Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study
    • Tunca M., Akar S., Onen F., et al. Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore) 84 (2005) 1-11
    • (2005) Medicine (Baltimore) , vol.84 , pp. 1-11
    • Tunca, M.1    Akar, S.2    Onen, F.3
  • 32
    • 0034658465 scopus 로고    scopus 로고
    • The gene for familial Mediterranean fever. MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators
    • Centola M., Wood G., Frucht D.M., et al. The gene for familial Mediterranean fever. MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. Blood 95 (2000) 3223-3231
    • (2000) Blood , vol.95 , pp. 3223-3231
    • Centola, M.1    Wood, G.2    Frucht, D.M.3
  • 33
    • 8444230096 scopus 로고    scopus 로고
    • Lipopolysaccharide-induced expression of multiple alternatively spliced MEFV transcripts in human synovial fibroblasts: a prominent splice isoform lacks the C-terminal domain that is highly mutated in familial Mediterranean fever
    • Diaz A., Hu C., Kastner D.L., et al. Lipopolysaccharide-induced expression of multiple alternatively spliced MEFV transcripts in human synovial fibroblasts: a prominent splice isoform lacks the C-terminal domain that is highly mutated in familial Mediterranean fever. Arthritis Rheum 50 (2004) 3679-3689
    • (2004) Arthritis Rheum , vol.50 , pp. 3679-3689
    • Diaz, A.1    Hu, C.2    Kastner, D.L.3
  • 34
    • 0036636094 scopus 로고    scopus 로고
    • Apoptosis as a therapeutic tool in rheumatoid arthritis
    • Pope R.M. Apoptosis as a therapeutic tool in rheumatoid arthritis. Nat Rev Immunol 2 (2002) 527-535
    • (2002) Nat Rev Immunol , vol.2 , pp. 527-535
    • Pope, R.M.1
  • 35
    • 34249720998 scopus 로고    scopus 로고
    • Cytokines in the pathogenesis of rheumatoid arthritis
    • McInnes I.B., and Schett G. Cytokines in the pathogenesis of rheumatoid arthritis. Nat Rev Immunol 7 (2007) 429-442
    • (2007) Nat Rev Immunol , vol.7 , pp. 429-442
    • McInnes, I.B.1    Schett, G.2
  • 36
    • 9644260350 scopus 로고    scopus 로고
    • Does immune activation continue during an attack-free period in familial Mediterranean fever?
    • Musabak U., Sengul A., Oktenli C., et al. Does immune activation continue during an attack-free period in familial Mediterranean fever?. Clin Exp Immunol 138 (2004) 526-533
    • (2004) Clin Exp Immunol , vol.138 , pp. 526-533
    • Musabak, U.1    Sengul, A.2    Oktenli, C.3
  • 37
    • 33845329906 scopus 로고    scopus 로고
    • Relationship between HLA-DR. HLA-DQ alleles and MEFV gene mutations in familial Mediterranean fever (FMF) patients
    • Kinikli G., Bektas M., Misirlioglu M., et al. Relationship between HLA-DR. HLA-DQ alleles and MEFV gene mutations in familial Mediterranean fever (FMF) patients. Turk J Gastroenterol 16 (2005) 143-146
    • (2005) Turk J Gastroenterol , vol.16 , pp. 143-146
    • Kinikli, G.1    Bektas, M.2    Misirlioglu, M.3
  • 38
    • 28844436713 scopus 로고    scopus 로고
    • HLA-DR genotypes in familial rheumatoid arthritis: increased frequency of protective and neutral alleles in a multicase family
    • Zsilák S., Gál J., Hodinka L., et al. HLA-DR genotypes in familial rheumatoid arthritis: increased frequency of protective and neutral alleles in a multicase family. J Rheumatol 32 (2005) 2299-2302
    • (2005) J Rheumatol , vol.32 , pp. 2299-2302
    • Zsilák, S.1    Gál, J.2    Hodinka, L.3
  • 39
    • 20944443397 scopus 로고    scopus 로고
    • Prevalence of rheumatoid arthritis in Antalya, Turkey
    • Kacar C., Gilgil E., Tuncer T., et al. Prevalence of rheumatoid arthritis in Antalya, Turkey. Clin Rheumatol 24 (2005) 212-214
    • (2005) Clin Rheumatol , vol.24 , pp. 212-214
    • Kacar, C.1    Gilgil, E.2    Tuncer, T.3
  • 40
    • 38049153308 scopus 로고    scopus 로고
    • Anti-cyclic citrullinated peptide antibodies in rheumatoid arthritis and Behçet's disease
    • Koca S.S., Akbulut H., Dag S., et al. Anti-cyclic citrullinated peptide antibodies in rheumatoid arthritis and Behçet's disease. Tohoku J Exp Med 213 (2007) 297-304
    • (2007) Tohoku J Exp Med , vol.213 , pp. 297-304
    • Koca, S.S.1    Akbulut, H.2    Dag, S.3


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