RT Journal Article
T1 Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells.
A1 Khatri, Bhuwan
A1 Tessneer, Kandice L
A1 Rasmussen, Astrid
A1 Aghakhanian, Farhang
A1 Reksten, Tove Ragna
A1 Adler, Adam
A1 Alevizos, Ilias
A1 Anaya, Juan-Manuel
A1 Aqrawi, Lara A
A1 Baecklund, Eva
A1 Brun, Johan G
A1 Bucher, Sara Magnusson
A1 Eloranta, Maija-Leena
A1 Engelke, Fiona
A1 Forsblad-d'Elia, Helena
A1 Glenn, Stuart B
A1 Hammenfors, Daniel
A1 Imgenberg-Kreuz, Juliana
A1 Jensen, Janicke Liaaen
A1 Johnsen, Svein Joar Auglænd
A1 Jonsson, Malin V
A1 Kvarnström, Marika
A1 Kelly, Jennifer A
A1 Li, He
A1 Mandl, Thomas
A1 Martín, Javier
A1 Nocturne, Gaétane
A1 Norheim, Katrine Brække
A1 Palm, Øyvind
A1 Skarstein, Kathrine
A1 Stolarczyk, Anna M
A1 Taylor, Kimberly E
A1 Teruel, Maria
A1 Theander, Elke
A1 Venuturupalli, Swamy
A1 Wallace, Daniel J
A1 Grundahl, Kiely M
A1 Hefner, Kimberly S
A1 Radfar, Lida
A1 Lewis, David M
A1 Stone, Donald U
A1 Kaufman, C Erick
A1 Brennan, Michael T
A1 Guthridge, Joel M
A1 James, Judith A
A1 Scofield, R Hal
A1 Gaffney, Patrick M
A1 Criswell, Lindsey A
A1 Jonsson, Roland
A1 Eriksson, Per
A1 Bowman, Simon J
A1 Omdal, Roald
A1 Rönnblom, Lars
A1 Warner, Blake
A1 Rischmueller, Maureen
A1 Witte, Torsten
A1 Farris, A Darise
A1 Mariette, Xavier
A1 Alarcon-Riquelme, Marta E
A1 PRECISESADS Clinical Consortium, 
A1 Shiboski, Caroline H
A1 Sjögren’s International Collaborative Clinical Alliance (SICCA), 
A1 Wahren-Herlenius, Marie
A1 Ng, Wan-Fai
A1 UK Primary Sjögren’s Syndrome Registry, 
A1 Sivils, Kathy L
A1 Adrianto, Indra
A1 Nordmark, Gunnel
A1 Lessard, Christopher J
AB 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.
YR 2022
FD 2022-07-27
LK http://hdl.handle.net/10668/19538
UL http://hdl.handle.net/10668/19538
LA en
DS RISalud
RD Apr 7, 2025