Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells.
- 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
- PRECISESADS Clinical Consortium
- Shiboski, Caroline H
- Sjögren’s International Collaborative Clinical Alliance (SICCA)
- Wahren-Herlenius, Marie
- Ng, Wan-Fai
- UK Primary Sjögren’s Syndrome Registry
- Sivils, Kathy L
- Adrianto, Indra
- Nordmark, Gunnel
- Lessard, Christopher J
DOIAbstract
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 glan...
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