PlumX Metrics
Embed PlumX Metrics

Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells

Nat Commun, Vol: 13, Issue: 1, Page: 4287-4287
2022
  • 0
    Citations
  • 131
    Usage
  • 0
    Captures
  • 0
    Mentions
  • 0
    Social Media
Metric Options:   Counts1 Year3 Year

Metrics Details

Article Description

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.

Bibliographic Details

Bhuwan Khatri; Kandice L Tessneer; Astrid Rasmussen; Farhang Aghakhanian; Tove Ragna Reksten; Adam Adler; Ilias Alevizos; Juan-Manuel Anaya; Lara A Aqrawi; Eva Baecklund; Johan G Brun; Sara Magnusson Bucher; Maija-Leena Eloranta; Fiona Engelke; Helena Forsblad-d'Elia; Stuart B Glenn; Daniel Hammenfors; Juliana Imgenberg-Kreuz; Janicke Liaaen Jensen; Svein Joar Auglænd Johnsen; Malin V Jonsson; Marika Kvarnström; Jennifer A Kelly; He Li; Thomas Mandl; Javier Martín; Gaétane Nocturne; Katrine Brække Norheim; Øyvind Palm; Kathrine Skarstein; Anna M Stolarczyk; Kimberly E Taylor; Maria Teruel; Elke Theander; Swamy Venuturupalli; Daniel J Wallace; Kiely M Grundahl; Kimberly S Hefner; Lida Radfar; David M Lewis; Donald U Stone; C. Erick Kaufman; Michael T Brennan; Joel M Guthridge; Judith A James; R. Hal Scofield; Patrick M Gaffney; Lindsey A Criswell; Roland Jonsson; Per Eriksson; Simon J Bowman; Roald Omdal; Lars Rönnblom; Blake Warner; Maureen Rischmueller; Torsten Witte; A. Darise Farris; Xavier Mariette; Marta E Alarcon-Riquelme; Caroline H Shiboski; Marie Wahren-Herlenius; Wan-Fai Ng; Kathy L Sivils; Indra Adrianto; Gunnel Nordmark; Christopher J Lessard

Provide Feedback

Have ideas for a new metric? Would you like to see something else here?Let us know