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Phenotype-genotype profiles in Crohn's disease predicted by genetic markers in autophagy-related genes (GOIA study II).

2013Journal article Restricted access
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dc.contributor.authorDurães, C
dc.contributor.authorMachado, J
dc.contributor.authorPortela, F
dc.contributor.authorRodrigues, S
dc.contributor.authorLago, P
dc.contributor.authorCravo, M
dc.contributor.authorMinistro, P
dc.contributor.authorMarques, M
dc.contributor.authorCremers, I
dc.contributor.authorFreitas, J
dc.contributor.authorCotter, J
dc.contributor.authorTavares, L
dc.contributor.authorMatos, L
dc.contributor.authorMedeiros, I
dc.contributor.authorSousa, R
dc.contributor.authorRamos, J
dc.contributor.authorDeus, JR, et al.
dc.date.accessioned2014-03-03T15:00:57Z
dc.date.available2014-03-03T15:00:57Z
dc.date.issued2013
dc.description.abstractBACKGROUND: About 70 loci are associated with susceptibility to Crohn's disease (CD), particularly in pathways of innate immunity, autophagy, and pathogen recognition. Phenotype-genotype associations are inconsistent. METHODS: CD susceptibility polymorphisms ATG16L1 rs2241880, ICAM1 rs5498, IL4 rs2070874, IL17F rs763780, IRGM rs13361189, ITLN1 rs2274910, LRRK2 rs11175593, and TLR4 rs4986790 were genotyped in a Portuguese population (511 CD patients, 626 controls) and assessed for association with CD clinical characteristics. RESULTS: There is a significant association of CD with the single nucleotide polymorphisms (SNPs) in ATG16L1 (odds ratio [OR] 1.36 [1.15-1.60], P = 2.7 × 10(-6) for allele G), IRGM (OR 1.56 [1.21-1.93], P = 3.9 × 10(-4) for allele C), and ITLN1 (OR 1.55 [1.28-1.88], P = 4.9 × 10(-4) for allele C). These SNPs are associated with ileal location (OR, respectively, 1.49, 1.52, and 1.70), ileocolonic location (OR, respectively, 1.31, 1.57, and 1.68), and involvement of the upper digestive tract (OR, respectively for ATG16L1 and IRGM, 1.96 and 1.95). The risk genotype GG in ATG16L1 is associated with patients who respond to steroids (OR 1.89), respond to immunosuppressants (OR 1.77), and to biologic therapy (OR 1.89). The SNPs in ITLN1 and IRGM are both associated with a positive response to biologic therapy. The risk for ileal, ileocolonic, and upper digestive tract locations increases with the number of risk alleles (OR for three alleles, respectively, 7.10, 3.54, and 12.07); the OR for positive response to biologic therapy is 3.66. CONCLUSIONS: A multilocus approach using autophagy-related genes provides insight into CD phenotype-genotype associations and genetic markers for predicting therapeutic responses.por
dc.identifier.citationInflamm Bowel Dis. 2013 Feb;19(2):230-9por
dc.identifier.issn1536-4844
dc.identifier.urihttp://hdl.handle.net/10400.10/1090
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherLippincott Williams and Wilkinspor
dc.subjectCrohn diseasepor
dc.subjectDoença de Crohnpor
dc.subjectAutophagypor
dc.subjectAutofagiapor
dc.subjectPhenotypepor
dc.subjectFenótipopor
dc.subjectGenotypepor
dc.subjectGenótipopor
dc.subjectPortugalpor
dc.titlePhenotype-genotype profiles in Crohn's disease predicted by genetic markers in autophagy-related genes (GOIA study II).por
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceNew Yorkpor
oaire.citation.endPage239por
oaire.citation.startPage230por
oaire.citation.titleInflammatory Bowel Diseasespor
oaire.citation.volume19por
rcaap.rightsclosedAccesspor
rcaap.typearticlepor

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