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Associations between sarcoidosis clinical course and ANXA11 rs1049550 C/T, BTNL2 rs2076530 G/A, and HLA class I and II alleles

2018-02Journal article Restricted access
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dc.contributor.authorMorais, A.
dc.contributor.authorLima, B.
dc.contributor.authorAlves, H.
dc.contributor.authorMelo, N.
dc.contributor.authorMota, P.C.
dc.contributor.authorMarques, A.
dc.contributor.authorDelgado, L.
dc.date.accessioned2017-03-03T18:55:48Z
dc.date.available2017-03-03T18:55:48Z
dc.date.issued2018-02
dc.description.abstractBackground: A genetic background may be responsible for the different clinical courses in sarcoidosis. We analyzed associations between sarcoidosis clinical course and HLA class I/II alleles and susceptibility gene SNPs ANXA11 rs1049550 C/T and BTNL2 rs2076530 G/A in a Portuguese population, investigating possible gene–gene interactions. Methods: We studied 138 unrelated Caucasian sarcoidosis patients (78 women, 56.5%; mean age, 37.2 ± 12.1 years). Disease that persisted after 2 years was considered chronic. Samples were genotyped for ANXA11 rs1049550 C/T and BTNL2 rs2076530 G/A SNPs using TaqMan Real-Time PCR Assays. HLA class I/II alleles were typed using PCR sequence-specific primers. Results: Sixty-six patients experienced disease resolution and 72 (52%) developed chronic disease. Comparison of rs1049550 and rs2076530 allele frequencies showed no significant differences. Only the HLA DRB1*03 allele was significantly associated with disease resolution (21.2% vs 4.9% for chronic disease; RR = 0.35; P < .01 after Bonferroni correction). In the logistic regression models evaluating the association between HLA alleles and chronic sarcoidosis adjusted for rs1049550 and rs2076530, only DRB1*03 was significantly associated with disease resolution. No significant interactions were found in any of the logistic regression analyses. Conclusions: In this population of Caucasian patients with sarcoidosis, only DRB1*03 was associated with disease resolution after 2 years’ follow-up, with no significant interactions found for susceptibility gene SNPs ANXA11 rs1049550 or BTNL2 rs2076530.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationClin Respir J. 2018 Feb;12(2):532-537. doi: 10.1111/crj.12559. Epub 2016 Oct 4.pt_PT
dc.identifier.doi10.1111/crj.12559pt_PT
dc.identifier.issn1752-6981
dc.identifier.urihttp://hdl.handle.net/10400.18/4476
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherJohn Wiley and Sonspt_PT
dc.relation.publisherversionhttp://onlinelibrary.wiley.com/doi/10.1111/crj.12559/epdfpt_PT
dc.subjectSarcoidosispt_PT
dc.subjectPortuguese Populationpt_PT
dc.titleAssociations between sarcoidosis clinical course and ANXA11 rs1049550 C/T, BTNL2 rs2076530 G/A, and HLA class I and II allelespt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage6pt_PT
oaire.citation.startPage1pt_PT
oaire.citation.titleClinical Respiratory Journalpt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT

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