Details

Autor(en) / Beteiligte

• 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
• Rönnblom, Lars
• Warner, Blake
• Rischmueller, Maureen
• Witte, Torsten
• Farris, A Darise
• Mariette, Xavier
• Alarcon-Riquelme, Marta E
• Shiboski, Caroline H
• Wahren-Herlenius, Marie
• Ng, Wan-Fai
• Sivils, Kathy L
• Adrianto, Indra
• Nordmark, Gunnel
• Lessard, Christopher J

Titel

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

Ist Teil von

• Nature communications, 2022-07, Vol.13 (1), p.4287-4287, Article 4287

Ort / Verlag

England: Nature Publishing Group

Erscheinungsjahr

2022

Link zum Volltext

Quelle

Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals

Beschreibungen/Notizen

• 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.