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dc.contributor.authorWolff, Anette Susanne Bøeen_US
dc.contributor.authorMitchell, Anna L.en_US
dc.contributor.authorCordell, Heather J.en_US
dc.contributor.authorShort, Andreaen_US
dc.contributor.authorSkinningsrud, Beateen_US
dc.contributor.authorOllier, Williamen_US
dc.contributor.authorBadenhoop, Klausen_US
dc.contributor.authorMeyer, Gesineen_US
dc.contributor.authorFalorni, Albertoen_US
dc.contributor.authorKämpe, Olleen_US
dc.contributor.authorUndlien, Dag Eriken_US
dc.contributor.authorPearce, Simon H.S.en_US
dc.contributor.authorHusebye, Eystein Sverreen_US
dc.PublishedGenes and Immunity 2015, 16(6):430-436eng
dc.description.abstractIn common with several other autoimmune diseases, autoimmune Addison’s disease (AAD) is thought to be caused by a combination of deleterious susceptibility polymorphisms in several genes, together with undefined environmental factors and stochastic events. To date, the strongest genomic association with AAD has been with alleles at the HLA locus, DR3–DQ2 and DR4. The contribution of other genetic variants has been inconsistent. We have studied the association of 16 single-nucleotide polymorphisms (SNPs) within the CD28–CTLA-4–ICOS genomic locus, in a cohort comprising 691 AAD patients of Norwegian and UK origin with matched controls. We have also performed a meta-analysis including 1002 patients from European countries. The G-allele of SNP rs231775 in CTLA-4 is associated with AAD in Norwegian patients (odds ratio (OR)=1.35 (confidence interval (CI) 1.10–1.66), P=0.004), but not in UK patients. The same allele is associated with AAD in the total European population (OR=1.37 (CI 1.13–1.66), P=0.002). A three-marker haplotype, comprising PROMOTER_1661, rs231726 and rs1896286 was found to be associated with AAD in the Norwegian cohort only (OR 2.43 (CI 1.68–3.51), P=0.00013). This study points to the CTLA-4 gene as a susceptibility locus for the development of AAD, and refines its mapping within the wider genomic locus.en_US
dc.publisherNature Publishing Groupeng
dc.rightsAttribution CC BY-NC-SAeng
dc.titleCTLA-4 as a genetic determinant in autoimmune Addison's diseaseen_US
dc.typePeer reviewed
dc.typeJournal article
dc.rights.holderCopyright 2015 The Authors

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