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Tsoi, Lam C; Stuart, Philip E; Tian, Chao; Gudjonsson, Johann E; Das, Sayantan; Zawistowski, Matthew; Ellinghaus, Eva; Barker, Jonathan N; Chandran, Vinod; Dand, Nick; Duffin, Kristina Callis; Enerbäck, Charlotta; Esko, Tõnu; Franke, Andre; Gladman, Dafna D; Hoffmann, Per; Kingo, Külli; Kõks, Sulev; Krueger, Gerald G; Lim, Henry W; Metspalu, Andres; Mrowietz, Ulrich; Mucha, Sören; Rahman, Proton; Reis, Andre; Tejasvi, Trilokraj; Trembath, Richard; Voorhees, John J; Weidinger, Stephan; Weichenthal, Michael; Wen, Xiaoquan; Eriksson, Nicholas; Kang, Hyun M; Hinds, David A; Nair, Rajan P; Abecasis, Gonçalo R; Elder, James T
Nature communications, 05/2017, Letnik: 8, Številka: 1Journal Article
Psoriasis is a complex disease of skin with a prevalence of about 2%. We conducted the largest meta-analysis of genome-wide association studies (GWAS) for psoriasis to date, including data from eight different Caucasian cohorts, with a combined effective sample size >39,000 individuals. We identified 16 additional psoriasis susceptibility loci achieving genome-wide significance, increasing the number of identified loci to 63 for European-origin individuals. Functional analysis highlighted the roles of interferon signalling and the NFκB cascade, and we showed that the psoriasis signals are enriched in regulatory elements from different T cells (CD8 T-cells and CD4 T-cells including T 0, T 1 and T 17). The identified loci explain ∼28% of the genetic heritability and generate a discriminatory genetic risk score (AUC=0.76 in our sample) that is significantly correlated with age at onset (p=2 × 10 ). This study provides a comprehensive layout for the genetic architecture of common variants for psoriasis.
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in: SICRIS
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