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Titolo:
Genetic heterogeneity within ulcerative colitis determined by an interleukin-1 receptor antagonist gene polymorphism and antineutrophil cytoplasmic antibodies
Autore:
Papo, M; Quer, JC; Gutierrez, C; Broch, M; Casellas, F; Pastor, RM; Olona, M; Richart, C;
Indirizzi:
Univolovira & Virgili, Sch Med, Hosp Univ Tarragona Joan XXIII, Gastroenter Univ Rovira & Virgili Tarragona Spain Tarragona Joan XXIII, Gastroenter
Titolo Testata:
EUROPEAN JOURNAL OF GASTROENTEROLOGY & HEPATOLOGY
fascicolo: 4, volume: 11, anno: 1999,
pagine: 413 - 420
SICI:
0954-691X(199904)11:4<413:GHWUCD>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
INFLAMMATORY BOWEL-DISEASE; NECROSIS-FACTOR-ALPHA; MAJOR HISTOCOMPATIBILITY COMPLEX; HLA CLASS-II; CROHNS-DISEASE; FACTOR TNF; NEUTROPHIL AUTOANTIBODIES; SUSCEPTIBILITY LOCUS; DIAGNOSTIC ROLE; ASSOCIATION;
Keywords:
anti-neutrophil cytoplasmic antibodies; cytokine gene polymorphisms; inflammatory bowel disease; ulcerative colitis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
53
Recensione:
Indirizzi per estratti:
Indirizzo: Papo, M Hosp3007, XXIII, Gastroenterol Sect, C Dr Mallafre Guasch No 4, Tarragona 4 Hosp Joan XXIII C Dr Mallafre Guasch No 4 Tarragona Spain 43007 4
Citazione:
M. Papo et al., "Genetic heterogeneity within ulcerative colitis determined by an interleukin-1 receptor antagonist gene polymorphism and antineutrophil cytoplasmic antibodies", EUR J GASTR, 11(4), 1999, pp. 413-420

Abstract

Background Although there is strong evidence implicating genetic predisposition in the pathogenesis of the chronic inflammatory bowel diseases, the number and identity of susceptibility genes remain uncertain. Cytokine genesare tentative candidate loci, but data regarding association studies in different populations are conflicting. Aims To determine potential associations of interleukin-1 receptor antagonist (IL-1ra), tumour necrosis factor alpha (TNF alpha), and tumour necrosisfactor beta (TNF beta) gene polymorphisms with ulcerative colitis or subsets of ulcerative colitis in a Spanish population. Methods Genotyping for IL-1ra, TNF alpha and TNF beta gene polymorphisms was performed by the polymerase chain reaction in 95 patients with ulcerative colitis and 74 healthy controls. A variable number of tandem repeats (VNTR) in the IL-1ra gene, and a single base pair polymorphism in the TNF alphagene promoter region (-308) and in the first intron of the TNF beta gene were analysed. Anti-neutrophil cytoplasmic antibodies (ANCA) were detected using an indirect immunofluorescence assay. Results There were no significant differences between ulcerative colitis patients and controls in either polymorphism analysed, nor between ulcerative colitis subgroups as a function of the clinical disease pattern. However,when stratified by their ANCA status, perinuclear ANCA (p-ANCA) ulcerativecolitis showed an increased frequency of the genotype 1,2 of the IL-1ra gene compared with ANCA-negative ulcerative colitis (52% versus 28%; P = 0.02, P-corr = 0.1). Furthermore, p-ANCA ulcerative colitis had a statisticallysignificant increase of this genotype compared with cytoplasmic ANCA (c-ANCA)/ANCA-negative ulcerative colitis (52% versus 26.5%; P = 0.01, P-corr = 0.05). Conclusions In the Spanish population studied, the polymorphisms analysed in the IL-1ra, TNF alpha and TNF beta genes are unlikely to be important inthe overall susceptibility to ulcerative colitis. However, the combinationof a subclinical (p-ANCA) and a genetic (IL-1ra gene) marker identified a distinct ulcerative colitis subgroup (p-ANCA; IL-1ra genotype 1,2). These findings provide further evidence of genetic heterogeneity within ulcerativecolitis, and support the concept that ANCA may represent a subclinical marker of genetic heterogeneity. Eur J Gastroenterol Hepatol 11:413-420 (C) 1999 Lippincott Williams & Wilkins.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/11/20 alle ore 22:07:39