- Main
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
- et al.
Published Web Location
https://doi.org/10.1038/s41467-022-30773-yAbstract
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.
Many UC-authored scholarly publications are freely available on this site because of the UC's open access policies. Let us know how this access is important for you.
Main Content
Enter the password to open this PDF file:
-
-
-
-
-
-
-
-
-
-
-
-
-
-