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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: Khatri, Bhuwan, Tessneer, Kandice L, Rasmussen, Astrid, Aghakhanian, Farhang, Reksten, Tove Ragna, Adler, Adam, Alevizos, Ilias, Anaya, Juan-Manuel, Aqrawi, Lara A, Baecklund, Eva, Brun, Johan G, Bucher, Sara Magnusson, Eloranta, Maija-Leena, Engelke, Fiona, Forsblad-d'Elia, Helena, Glenn, Stuart B, Hammenfors, Daniel, Imgenberg-Kreuz, Juliana, Jensen, Janicke Liaaen, Johnsen, Svein Joar Auglænd, Jonsson, Malin V, Kvarnström, Marika, Kelly, Jennifer A, Li, He, Mandl, Thomas, Martín, Javier, Nocturne, Gaétane, Norheim, Katrine Brække, Palm, Øyvind, Skarstein, Kathrine, Stolarczyk, Anna M, Taylor, Kimberly E, Teruel, Maria, Theander, Elke, Venuturupalli, Swamy, Wallace, Daniel J, Grundahl, Kiely M, Hefner, Kimberly S, Radfar, Lida, Lewis, David M, Stone, Donald U, Kaufman, C Erick, Brennan, Michael T, Guthridge, Joel M, James, Judith A, Scofield, R Hal, Gaffney, Patrick M, Criswell, Lindsey A, Jonsson, Roland, Eriksson, Per, Bowman, Simon J, Omdal, Roald, Lessard, Christopher J
المصدر: Nature Communications. 13(1)
مصطلحات موضوعية: Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide, Sjogren's Syndrome/genetics, Medicin och hälsovetenskap, Medicinska och farmaceutiska grundvetenskaper, Medicinsk genetik, Medical and Health Sciences, Basic Medicine, Medical Genetics
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 to >40. Many GWS SNPs are eQTLs for genes within topologically associated domains in immune cells and/or eQTLs in the main target tissue, salivary glands.
الوصول الحر: https://lup.lub.lu.se/record/f459ade0-135d-49e1-8e98-84488dce87bdTest
http://dx.doi.org/10.1038/s41467-022-30773-yTest
قاعدة البيانات: SwePub
الوصف
تدمد:20411723
DOI:10.1038/s41467-022-30773-y