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Article
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Genome-wide association study identifies Sjögrens risk loci with functional implications in immune and glandular cells.

Khatri, Bhuwan;
Tessneer, Kandice;
Rasmussen, Astrid;
Aghakhanian, Farhang;
Reksten, Tove;
Adler, Adam;
Alevizos, Ilias;
Anaya, Juan-Manuel;
Aqrawi, Lara;
Baecklund, Eva;
Brun, Johan;
Bucher, Sara;
Eloranta, Maija-Leena;
Engelke, Fiona;
Forsblad-dElia, Helena;
Glenn, Stuart;
Hammenfors, Daniel;
Imgenberg-Kreuz, Juliana;
Jensen, Janicke;
Johnsen, Svein;
Jonsson, Malin;
Kvarnström, Marika;
Kelly, Jennifer;
Li, He;
Mandl, Thomas;
Martín, Javier;
Nocturne, Gaétane;
Norheim, Katrine;
Palm, Øyvind;
Skarstein, Kathrine;
Stolarczyk, Anna;
Taylor, Kimberly;
Teruel, Maria;
Theander, Elke;
Venuturupalli, Swamy;
Wallace, Daniel;
Grundahl, Kiely;
Hefner, Kimberly;
Radfar, Lida;
Lewis, David;
Stone, Donald;
Kaufman, C;
Brennan, Michael;
Guthridge, Joel;
James, Judith;
Scofield, R;
Gaffney, Patrick;
Criswell, Lindsey;
Jonsson, Roland;
Eriksson, Per;
Bowman, Simon;
Omdal, Roald;
Rönnblom, Lars;
Warner, Blake;
Rischmueller, Maureen;
Witte, Torsten;
Farris, A;
Mariette, Xavier;
Alarcon-Riquelme, Marta;
Shiboski, Caroline;
Wahren-Herlenius, Marie;
Ng, Wan-Fai;
Sivils, Kathy;
Adrianto, Indra;
Nordmark, Gunnel;
Lessard, Christopher

UC San Francisco Previously Published Works (2022)

Sjögrens 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 Sjögrens 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.

Cover page: Genome-wide association study identifies Sjögrens risk loci with functional implications in immune and glandular cells.