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Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells

التفاصيل البيبلوغرافية
العنوان: Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells
المؤلفون: Bhuwan, Khatri, Kandice L, Tessneer, Astrid, Rasmussen, Farhang, Aghakhanian, Tove Ragna, Reksten, Adam, Adler, Ilias, Alevizos, Juan-Manuel, Anaya, Lara A, Aqrawi, Eva, Baecklund, Johan G, Brun, Sara Magnusson, Bucher, Maija-Leena, Eloranta, Fiona, Engelke, Helena, Forsblad-d'Elia, Stuart B, Glenn, Daniel, Hammenfors, Juliana, Imgenberg-Kreuz, Janicke Liaaen, Jensen, Svein Joar Auglænd, Johnsen, Malin V, Jonsson, Marika, Kvarnström, Jennifer A, Kelly, He, Li, Thomas, Mandl, Javier, Martín, Gaétane, Nocturne, Katrine Brække, Norheim, Øyvind, Palm, Kathrine, Skarstein, Anna M, Stolarczyk, Kimberly E, Taylor, Maria, Teruel, Elke, Theander, Swamy, Venuturupalli, Daniel J, Wallace, Kiely M, Grundahl, Kimberly S, Hefner, Lida, Radfar, David M, Lewis, Donald U, Stone, C Erick, Kaufman, Michael T, Brennan, Joel M, Guthridge, Judith A, James, R Hal, Scofield, Patrick M, Gaffney, Lindsey A, Criswell, Roland, Jonsson, Per, Eriksson, Simon J, Bowman, Roald, Omdal, Lars, Rönnblom, Blake, Warner, Maureen, Rischmueller, Torsten, Witte, A Darise, Farris, Xavier, Mariette, Marta E, Alarcon-Riquelme, Caroline H, Shiboski, Marie, Wahren-Herlenius, Wan-Fai, Ng, Kathy L, Sivils, Indra, Adrianto, Gunnel, Nordmark, Christopher J, Lessard
المصدر: Nature communications. 13(1)
سنة النشر: 2021
مصطلحات موضوعية: Sjogren's Syndrome, Humans, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study
الوصف: Sjögren's disease is a complex autoimmune disease with twelve established susceptibility loci. This genome-wide association study (GWAS) identifies ten novel genome-wide significant (GWS) regions in Sjögren's cases of European ancestry: CD247, NAB1, PTTG1-MIR146A, PRDM1-ATG5, TNFAIP3, XKR6, MAPT-CRHR1, RPTOR-CHMP6-BAIAP6, TYK2, SYNGR1. Polygenic risk scores yield predictability (AUROC = 0.71) and relative risk of 12.08. Interrogation of bioinformatics databases refine the associations, define local regulatory networks of GWS SNPs from the 95% credible set, and expand the implicated gene list to40. Many GWS SNPs are eQTLs for genes within topologically associated domains in immune cells and/or eQTLs in the main target tissue, salivary glands.
تدمد: 2041-1723
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::06cf8bec799422c3df0cd65ff6519afb
https://pubmed.ncbi.nlm.nih.gov/36316359
حقوق: OPEN
رقم الأكسشن: edsair.pmid..........06cf8bec799422c3df0cd65ff6519afb
قاعدة البيانات: OpenAIRE
الوصف
تدمد:20411723