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• W2517593543 abstract "<h3>Background</h3> Large-scale genetic studies have reported several <i>loci</i> associated with specific disorders involving uveitis. Our aim was to identify genetic risk factors that might predispose to uveitis per se, independent of the clinical diagnosis, by performing a dense genotyping of immune-related <i>loci</i>. <h3>Methods</h3> 613 cases and 3693 unaffected controls from three European case/control sets were genotyped using the Immunochip array. Only patients with non-infectious non-anterior uveitis and without systemic features were selected. To perform a more comprehensive analysis of the human leucocyte antigen (HLA) region, SNPs, classical alleles and polymorphic amino acid variants were obtained via imputation. A meta-analysis combining the three case/control sets was conducted by the inverse variance method. <h3>Results</h3> The highest peak belonged to the HLA region. A more detailed analysis of this signal evidenced a strong association between the classical allele HLA-A*2902 and birdshot chorioretinopathy (p=3.21E-35, OR=50.95). An omnibus test yielded HLA-A 62 and 63 as relevant amino acid positions for this disease. In patients with intermediate and posterior uveitis, the strongest associations belonged to the rs7197 polymorphism, within <i>HLA-DRA</i> (p=2.07E-11, OR=1.99), and the HLA-DR15 haplotype (DRB1*1501: p=1.16E-10, OR=2.08; DQA1*0102: p=4.37E-09, OR=1.77; DQB1*0602: p=7.26E-10, OR=2.02). Outside the HLA region, the <i>MAP4K4</i>/<i>IL1R2 locus</i> reached statistical significance (rs7608679: p=8.38E-07, OR=1.42). Suggestive associations were found at five other loci. <h3>Conclusions</h3> We have further interrogated the association between the HLA region and non-infectious non-anterior uveitis. In addition, we have identified a new non-HLA susceptibility factor and proposed additional risk <i>loci</i> with putative roles in this complex condition." @default.
• W2517593543 created "2016-09-16" @default.
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• W2517593543 date "2016-09-08" @default.
• W2517593543 modified "2023-10-18" @default.
• W2517593543 title "New insights into the genetic component of non-infectious uveitis through an Immunochip strategy" @default.
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• W2517593543 doi "https://doi.org/10.1136/jmedgenet-2016-104144" @default.
• W2517593543 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27609017" @default.
• W2517593543 hasPublicationYear "2016" @default.
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