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Protective effect of an ERAP1 haplotype in ankylosing spondylitis: investigating non-MHC genes in HLA-B27-positive individuals

2013-09-17Journal article Restricted access
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dc.contributor.authorBettencourt, B.F.
dc.contributor.authorRocha, F.L.
dc.contributor.authorAlves, H.
dc.contributor.authorAmorim, R.
dc.contributor.authorCaetano Lopes, J.
dc.contributor.authorVieira Sousa, E.
dc.contributor.authorPimentel Santos, F.
dc.contributor.authorLima, M.
dc.contributor.authorPorto, G.
dc.contributor.authorBranco, J.C.
dc.contributor.authorFonseca, J.E.
dc.contributor.authorBruges Armas, J.
dc.date.accessioned2014-10-30T12:54:23Z
dc.date.available2015-03-01T01:30:06Z
dc.date.issued2013-09-17
dc.descriptionH. Alves - INSA/Departamento Promoção da Saúde e Prevenção de Doenças Não Transmissíveis (Porto)por
dc.description.abstractOBJECTIVE: The association of non-MHC genes with AS has been recently suggested. We aimed to investigate the association of the ERAP1, IL23R and TNFSF15 regions and the susceptibility to and protection from AS in HLA-B27-positive individuals. METHODS: A total of 200 unrelated AS patients and 559 healthy unrelated subjects, all HLA-B27 positive, were tested. Twenty single nucleotide polymorphisms (SNPs) were investigated in and near IL23R (nine SNPs), in ERAP1 (five SNPs) and in TNFSF15 (six SNPs). RESULTS: ERAP1 rs30187 [odds ratio (OR) = 1.5, P = 4.7 × 10(-3)] had the strongest association with AS susceptibility. A protective effect was found in three of the ERAP1 SNPs: rs17482078 (OR = 0.7, P = 2.8 × 10(-2)), rs10050860 (OR = 0.7, P = 2.3 × 10(-2)), rs2287987 (OR = 0.6, P = 1.3 × 10(-2)). The ERAP1 haplotype rs17482078/rs10050860/rs30187/rs2287987-CCTT showed an association with AS susceptibility (P = 6.8 × 10(-3)) and a protective effect was identified in rs17482078/rs10050860/rs30187/rs2287987-TTCC (P = 3.1 × 10(-2)). Significant association with AS susceptibility was found in one IL23R marker (rs1004819, P = 4.3 × 10(-2), OR = 1.3). No associations were observed in the TNFSF15 region. CONCLUSION: The identification of a new protection haplotype in ERAP1 and the lack of association of the TNFSF15 region can provide new insights into the understanding of the mechanisms underlying the susceptibility to and protection from AS.por
dc.description.sponsorshipThis work was partially funded by a grant from the DRCT (Science and Technology Regional Board) from the Autonomous Government of Azores, Portugal (DRCT M2.1.2/I/014/2007).por
dc.identifier.citationRheumatology (Oxford). 2013 Dec;52(12):2168-76. doi: 10.1093/rheumatology/ket269. Epub 2013 Sep 17.por
dc.identifier.doiket269
dc.identifier.issn1462-0324
dc.identifier.urihttp://hdl.handle.net/10400.18/2412
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherOxford University Press (OUP)/ British Society for Rheumatologypor
dc.relation.publisherversionhttp://rheumatology.oxfordjournals.org/content/52/12/2168.abstractpor
dc.subjectERAP1por
dc.subjectIL23Rpor
dc.subjectTNFSF15por
dc.subjectAnkylosing Spondylitispor
dc.subjectProtection Haplotypepor
dc.titleProtective effect of an ERAP1 haplotype in ankylosing spondylitis: investigating non-MHC genes in HLA-B27-positive individualspor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage2176por
oaire.citation.startPage2168por
oaire.citation.volume52(12)por
rcaap.rightsrestrictedAccesspor
rcaap.typearticlepor

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