TY - JOUR
T1 - Genome-wide association study identifies Sjögren’s risk loci with functional implications in immune and glandular cells
AU - PRECISESADS Clinical Consortium
AU - Sjögren’s International Collaborative Clinical Alliance (SICCA)
AU - UK primary Sjögren's Syndrome Registry
AU - Khatri, Bhuwan
AU - Tessneer, Kandice L.
AU - Rasmussen, Astrid
AU - Aghakhanian, Farhang
AU - Reksten, Tove Ragna
AU - Adler, Adam
AU - Alevizos, Ilias
AU - Anaya, Juan Manuel
AU - Aqrawi, Lara A.
AU - Baecklund, Eva
AU - Brun, Johan G.
AU - Bucher, Sara Magnusson
AU - Eloranta, Maija Leena
AU - Engelke, Fiona
AU - Forsblad-d’Elia, Helena
AU - Glenn, Stuart B.
AU - Hammenfors, Daniel
AU - Imgenberg-Kreuz, Juliana
AU - Jensen, Janicke Liaaen
AU - Johnsen, Svein Joar Auglænd
AU - Jonsson, Malin V.
AU - Kvarnström, Marika
AU - Kelly, Jennifer A.
AU - Li, He
AU - Mandl, Thomas
AU - Martín, Javier
AU - Nocturne, Gaétane
AU - Norheim, Katrine Brække
AU - Palm, Øyvind
AU - Skarstein, Kathrine
AU - Stolarczyk, Anna M.
AU - Taylor, Kimberly E.
AU - Teruel, Maria
AU - Theander, Elke
AU - Venuturupalli, Swamy
AU - Wallace, Daniel J.
AU - Grundahl, Kiely M.
AU - Hefner, Kimberly S.
AU - Radfar, Lida
AU - Lewis, David M.
AU - Stone, Donald U.
AU - Kaufman, C. Erick
AU - Brennan, Michael T.
AU - Guthridge, Joel M.
AU - James, Judith A.
AU - Scofield, R. Hal
AU - Gaffney, Patrick M.
AU - Criswell, Lindsey A.
AU - Jonsson, Roland
AU - Ng, Wan Fai
N1 - Publisher Copyright:
© 2022, The Author(s).
PY - 2022/12
Y1 - 2022/12
N2 - 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.
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.
UR - https://www.scopus.com/pages/publications/85124380336
U2 - 10.1038/s41467-022-30773-y
DO - 10.1038/s41467-022-30773-y
M3 - Article
C2 - 35896530
AN - SCOPUS:85124380336
SN - 2041-1723
VL - 13
JO - Nature Communications
JF - Nature Communications
IS - 1
M1 - 4287
ER -