Increased frequency of mutations in the gene responsible for familial Mediterranean fever (MEFV) in a cohort of patients with ulcerative colitis: Evidence for a potential disease-modifying effect?

Digestive Diseases and Sciences

Volumn 51, Issue 4, 2006, Pages 687-692

  Giaglis, Stavros ^a   Mimidis, Konstantinos ^a   Papadopoulos, Vassilios ^a   Thomopoulos, Konstantinos ^b   Sidiropoulos, Prodromos ^c   Rafail, Stavros ^a   Nikolopoulou, Vassiliki ^b   Fragouli, Eleni ^c   Kartalis, Georgios ^a   Tzioufas, Athanasios ^d   Boumpas, Dimitrios ^c   Ritis, Konstantinos ^a,e  

^a DEMOCRITUS UNIVERSITY OF THRACE   (Greece)

^b UNIVERSITY OF PATRAS   (Greece)

^c UNIVERSITY OF CRETE   (Greece)

^d UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^e NONE   (Greece)

Author keywords

Extraintestinal manifestations; FMF; MEFV; Ulcerative colitis

Indexed keywords

GENE PRODUCT; PROTEIN MEFV; RIBONUCLEASE; UNCLASSIFIED DRUG;

ADULT; ARTHRITIS; ARTICLE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; COHORT ANALYSIS; CONTROLLED STUDY; CORRELATION ANALYSIS; DISEASE ASSOCIATION; DISEASE COURSE; EXON; FAMILIAL MEDITERRANEAN FEVER; FEMALE; FREQUENCY ANALYSIS; GENE FREQUENCY; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOTE; HUMAN; LONGITUDINAL STUDY; MALE; PRIORITY JOURNAL; RHEUMATOID ARTHRITIS; RNA ANALYSIS; RNA CLEAVAGE; TISSUE DISTRIBUTION; ULCERATIVE COLITIS;

ADULT; CASE-CONTROL STUDIES; COHORT STUDIES; COLITIS, ULCERATIVE; CYTOSKELETAL PROTEINS; FAMILIAL MEDITERRANEAN FEVER; FEMALE; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION TO DISEASE; GREECE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; POINT MUTATION; PROBABILITY; REFERENCE VALUES; SENSITIVITY AND SPECIFICITY; SEVERITY OF ILLNESS INDEX;

EID: 33645883525     PISSN: 01632116     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10620-006-3192-1     Document Type: Article

References (24)

1. Livneh A, Langevitz P, Zemer D, et al.: Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 40:1879-1885, 1997
2. The French FMF Consortium: A candidate gene for familial Mediterranean fever. Nat Genet 17:25-31, 1997
3. The International FMF Consortium: Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 90:797-807, 1997
4. Sarrauste de Menthiere C, Terriere S, Pugnere D, Ruiz M, Demaille J, Touitou I: INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations. Nucleic Acids Res 31:282-285, 2003
5. Ritis K, Giaglis S, Spathari N, et al.: Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients. Ann Rheum Dis 63:438-443, 2004
6. Konstantopoulos K, Kanta A, Deltas C, et al.: Familial Mediterranean fever associated pyrin mutations in Greece. Ann Rheum Dis 62:479-181, 2003
7. Hiller S, Kohl A, Fiorito F, Herrmann et al.: NMR structure of the apoptosis- and inflammation-related NALP1 pyrin domain. Structure (Camb) 11:1199-205, 2003
8. McDermott MF: A common pathway in periodic fever syndromes. Trends Immunol 25:457-460, 2004
9. Chae JJ, Komarow HD, Cheng J, et al.: Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis. Mol Cell 11:591-604, 2003
10. McDermott MF, Aksentijevich I: The autoinflammatory syndromes. Curr Opin Allergy Clin Immunol 2:511-516, 2002
11. Stehlik C, Lee SH, Dorfleutner A, Stassinopoulos A, Sagara J, Reed JC: Apoptosis-associated speck-like protein containing acaspase recruitment domain is a regulator of procaspase-1 activation. J Immunol 171:6154-6163, 2003
12. Podolsky DK: Inflammatory bowel disease. N Engl J Med 347:417-429, 2002
13. Farrell RJ, Peppercorn MA: Ulcerative colitis. Lancet 359:331-340, 2002
14. Cattan D, Notarnicola C, Molinari N, Touitou I: Inflammatory bowel disease in non-Ashkenazi Jews with familial Mediterranean fever. Lancet 355:378-379, 2000
15. Lichtenberger GS, Flavell RA, Alexopoulou L: Innate immunity and apoptosis in IBD. Inflamm Bowel Dis 10(Suppl 1):58-62, 2004
16. Fidder H, Chowers Y, Ackerman Z, et al.: The familial Mediterranean fever (MEVF) gene as a modifier of Crohn's disease. Am J Gastroenterol 100:338-343, 2005
17. Karban A, Dagan E, Eliakim R, et al.: Prevalence and significance of mutations in the familial Mediterranean fever gene in patients with Crohn's disease. Genes Immun 6:134-139, 2005
18. Hommes DW, van Deventer SJ: Endoscopy in inflammatory bowel diseases. Gastroenterology 126:1561-1573, 2004
19. Goldrick MM, Kimball GR, Liu Q, Martin LA, Sommer SS, Tseng JY: NIRCA: a rapid robust method for screening for unknown point mutations. BioTechniques 21:106-112, 1996
20. Aldea A, Calafell F, Arostegui JI, et al.: The West Side Story: MEFV haplotype in Spanish FMF patients and controls, and evidence of high LD and a recombination "hotspot" at the MEFV locus. Hum Mutat 23:399-406, 2004
21. Tunca M, Kirkali G, Soyturk M, Akar S, Pepys MB, Hawkins PN: Acute phase response and evolution of familial Mediterranean fever. Lancet 353:1415, 1999
22. Fidder HH, Chowers Y, Lidar M, Sternberg M, Langevitz P, Livneh A: Crohn disease in patients with familial Mediterranean fever. Medicine (Baltimore) 81:411-116, 2002
23. Mor A, Gal R, Livneh A: Abdominal and digestive system associations of familial Mediterranean fever: Am J Gastroenterol 98:2594-2604, 2003
24. Diaz A, Hu C, Kastner DL, et al.: Lipopolysaccharide-induced expression of multiple alternatively spliced MEFV transcripts in human synovial fibroblasts. Arthritis Rheum 50:3679-3689, 2004