Background: Jnflammatory bowcl dianaac (1130) has beon associatcd with .acvcral pclymcrphisrns in genea lik&y involvcd in innate irnmunc teSponscs and intcgrity o1’ epitheliai mucosal barrier. A majnt role in aclult Crohnts dboase (CT)) has bccn clclincci l’or 3 polymorphisms in the CARDIS gcIlc, whcreas variants in the SLC22ÀI, 3LC2245, anci DLCM genea could hevc a minor contribution to IBD susccptibility. Methods: Wc annlyzod a pane] ol’ 6 polyrnorphisms within thcse genca in 227 Italian carly-onset TBD patìcnts (134 CD, 93 ulceratìw colitìs [IJC]; ago ar cliaguosìs sia years) aix! 166 unaffixied contro! subjectn. Rcsults: Each CAÌWIS variant was found to ho inctependently aaaooiatod with CD. Afier the gcnoiypes nt the 3 polyniorphisms werc onmhincd, 37.3% patienta carricci at 1o.ast 1 varinnt conipnred with 9.2% controL sobjccts oc1ds ratio, 5.87; 95% CL 311—11.1;? 0.001). The combineti frcquency ci’ CARD!5 varianta was eisa highor in IJC chiklren comparcd with controi subjeccs (14% va 9.2%), hut this clifferonce was oot significant. Howcvcr, 4ItD (5 vnrinnt wcrc associatcd with carlicr onsel ai’ ZJC, cix! the mutation rato wa signìficantly bigher in UC patients with onaet at or beforo 6 ycars of ago coniparoet with control subjects (27.6% vs 9.2%) (oddn ratio = 3.76; 95% Ci 1,42—9.94; 1” 0.01). C7.4RDIS varianta ciao werc associated with bel CD invotvcment miti a higher rate af oxtraintestinai mttnifstntiona in TJC. Miele etici genotype frequencica at .S’LC22A enti T.N.GS polyn&orphisrns were not tignilicantly dutfcrent between casca and controla, Conclusiona: Our results demonatrate that iii the Irniiait population, the major CARDIS polymoqjliixnis aro associsteci with suscepdbiliiy to early-onset CD enti with ileal involvcnicnt and sugqest a previously unrcportecl nasocintion with veiy caTly-onsct, severe UC.
Relationship between CARD15, SLC22A4/5, and DLG5 polymorphism and early-onset inflammatory bowel disease; an italian multicentric study. (I.F.3.912) / A.FERRARIS; B.TORRES; D.KNAFELZ; A.BARABINO; P.LIONETTI; DE' ANGELIS G.L.; G.IACONO; B.PAPADATOU; G.D'AMATO; V.DI CIOMMO; B.DALLAPICCOLA; M.CASTRO. - In: INFLAMMATORY BOWEL DISEASES. - ISSN 1078-0998. - 12(2006), pp. 355-361. [10.1097/01.mib.0000217338.23065.58]