FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W1518982247> ?p ?o ?g. }

• W1518982247 endingPage "269" @default.
• W1518982247 startingPage "S" @default.
• W1518982247 abstract "Background: Proteases and protease inhibitors affect several components that contribute to mucosal barrier integrity, and therefore may be important players in the pathophysiology of Inflammatory Bowel Disease (IBD). Aim: We aimed to elucidate if and which proteases/ protease inhibitors are involved in IBD pathogenesis. Methods: In a first step, a systematic review was performed of all relevant published genetic studies in Crohn's disease (CD) and ulcerative colitis (UC), to prioritize all known proteases/protease inhibitors based on the amount of available genetic evidence for association with IBD. In a second step, the topranked genes for CD and UC were followed up in a genetic association study. A total of 185 haplotype tagging SNPs in 23 genes were genotyped in an exploratory cohort of 650 CD (CD1), 721 UC (UC1), and 542 healthy controls (HC1). Replication of SNPs with puncorrected<0.1 was performed in 4 independent cohorts: CD2 (n=634), UC2 (n=528), HC2 (n=900); CD3 (n=377), UC3 (n=290), HC3(n=354); CD4 (n=432), UC4 (n=432); and CD5 (n=227), UC5 (n=141). Cases and controls were compared according to the additive genetic model. False Discovery Rate (FDR) correction was applied to correct for multiple testing (R 2.9.1). Results: All SNPs showing significant associations (pFDR<0.05) in the combined cohort [CD1-5 (n=2320) vs HC1-3 (n=1796), and UC1-5 (n=2112) vs HC1-3] are shown in Table 1. Strongest evidence was found in CD for CYLD, located 9kb downstream of CARD15, with 2 risk increasing and 2 protective SNPs. To test whether the signal seen in CYLD is driven by thewell-established CARD15 association, logistic regressionwas performed. CARD15 data were available in 1135 CD and 674 HC. The final model included both CARD15 and CYLD, pointing to independent signals from both genes (pCYLDrs12324931<0.001, OR=2.1[1.6-2.8]; pCARD15rs2066845<0.001, OR=2.9[1.8-4.8]; pCARD15rs2066847<0.001, OR= 3.7[2.5-5.5]). Patients without CARD15 variants showed significant association with rs12324931 (p=0.005, OR=2.9[1.3-6.6]). Another interesting outcome is the strong signal seen in CD for USP40, located near ATG16L1. Logistic regression analysis in CD1 (versus HC1), showed that rs10929178 and rs12472244 (USP40), and rs2241880 (ATG16L1) are independently associated with risk for CD (p=0.009, OR[0.6-0.9]; p=0.05, OR[0.8-1.0]; and p=0.009, OR[0.6-0.9] respectively). Conclusions: We provide strong evidence for association of CYLD on 16q12.1 in CD patients, which is independent from CARD15. CYLD, a cytoplasmic deubiquitinating enzyme, is a key negative regulator of NF-κB, and has been shown to be significantly down-regulated in the intestine of IBD patients. Moreover, we identified several variants in other protease/protease inhibitor genes which are implicated in either CD (USP40, a ubiquitin-specific peptidase), UC (DAG1, MST1, PSMB8), or both (APEH, USP3). Table 1" @default.
• W1518982247 created "2016-06-24" @default.
• W1518982247 creator A5005601386 @default.
• W1518982247 creator A5011571431 @default.
• W1518982247 creator A5019638425 @default.
• W1518982247 creator A5034143227 @default.
• W1518982247 creator A5035504682 @default.
• W1518982247 creator A5051714890 @default.
• W1518982247 creator A5051903151 @default.
• W1518982247 creator A5052113690 @default.
• W1518982247 creator A5069067500 @default.
• W1518982247 creator A5069192514 @default.
• W1518982247 creator A5072194821 @default.
• W1518982247 creator A5073171691 @default.
• W1518982247 creator A5080256471 @default.
• W1518982247 creator A5081674539 @default.
• W1518982247 creator A5084577908 @default.
• W1518982247 creator A5085445477 @default.
• W1518982247 creator A5087437075 @default.
• W1518982247 date "2011-05-01" @default.
• W1518982247 modified "2023-10-14" @default.
• W1518982247 title "The Protease Genes Cyld and USP40 Are Associated With Crohn's Disease: Results From a European Consortium" @default.
• W1518982247 cites W2165872127 @default.
• W1518982247 doi "https://doi.org/10.1016/s0016-5085(11)61076-7" @default.
• W1518982247 hasPublicationYear "2011" @default.
• W1518982247 type Work @default.
• W1518982247 sameAs 1518982247 @default.
• W1518982247 citedByCount "0" @default.
• W1518982247 crossrefType "journal-article" @default.
• W1518982247 hasAuthorship W1518982247A5005601386 @default.
• W1518982247 hasAuthorship W1518982247A5011571431 @default.
• W1518982247 hasAuthorship W1518982247A5019638425 @default.
• W1518982247 hasAuthorship W1518982247A5034143227 @default.
• W1518982247 hasAuthorship W1518982247A5035504682 @default.
• W1518982247 hasAuthorship W1518982247A5051714890 @default.
• W1518982247 hasAuthorship W1518982247A5051903151 @default.
• W1518982247 hasAuthorship W1518982247A5052113690 @default.
• W1518982247 hasAuthorship W1518982247A5069067500 @default.
• W1518982247 hasAuthorship W1518982247A5069192514 @default.
• W1518982247 hasAuthorship W1518982247A5072194821 @default.
• W1518982247 hasAuthorship W1518982247A5073171691 @default.
• W1518982247 hasAuthorship W1518982247A5080256471 @default.
• W1518982247 hasAuthorship W1518982247A5081674539 @default.
• W1518982247 hasAuthorship W1518982247A5084577908 @default.
• W1518982247 hasAuthorship W1518982247A5085445477 @default.
• W1518982247 hasAuthorship W1518982247A5087437075 @default.
• W1518982247 hasBestOaLocation W15189822471 @default.
• W1518982247 hasConcept C104317684 @default.
• W1518982247 hasConcept C126322002 @default.
• W1518982247 hasConcept C181199279 @default.
• W1518982247 hasConcept C203014093 @default.
• W1518982247 hasConcept C2776714187 @default.
• W1518982247 hasConcept C2779134260 @default.
• W1518982247 hasConcept C2779280984 @default.
• W1518982247 hasConcept C54355233 @default.
• W1518982247 hasConcept C55493867 @default.
• W1518982247 hasConcept C71924100 @default.
• W1518982247 hasConcept C86803240 @default.
• W1518982247 hasConceptScore W1518982247C104317684 @default.
• W1518982247 hasConceptScore W1518982247C126322002 @default.
• W1518982247 hasConceptScore W1518982247C181199279 @default.
• W1518982247 hasConceptScore W1518982247C203014093 @default.
• W1518982247 hasConceptScore W1518982247C2776714187 @default.
• W1518982247 hasConceptScore W1518982247C2779134260 @default.
• W1518982247 hasConceptScore W1518982247C2779280984 @default.
• W1518982247 hasConceptScore W1518982247C54355233 @default.
• W1518982247 hasConceptScore W1518982247C55493867 @default.
• W1518982247 hasConceptScore W1518982247C71924100 @default.
• W1518982247 hasConceptScore W1518982247C86803240 @default.
• W1518982247 hasIssue "5" @default.
• W1518982247 hasLocation W15189822471 @default.
• W1518982247 hasOpenAccess W1518982247 @default.
• W1518982247 hasPrimaryLocation W15189822471 @default.
• W1518982247 hasRelatedWork W1584294269 @default.
• W1518982247 hasRelatedWork W1972654344 @default.
• W1518982247 hasRelatedWork W1976676963 @default.
• W1518982247 hasRelatedWork W2025062623 @default.
• W1518982247 hasRelatedWork W2078916521 @default.
• W1518982247 hasRelatedWork W2082482010 @default.
• W1518982247 hasRelatedWork W2357611842 @default.
• W1518982247 hasRelatedWork W2383988748 @default.
• W1518982247 hasRelatedWork W2438546874 @default.
• W1518982247 hasRelatedWork W2621172328 @default.
• W1518982247 hasVolume "140" @default.
• W1518982247 isParatext "false" @default.
• W1518982247 isRetracted "false" @default.
• W1518982247 magId "1518982247" @default.
• W1518982247 workType "article" @default.