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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 and Baecklund, Eva , et al. (2022) In Nature Communications 13(1).
Abstract

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,... (More)

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.

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organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Polymorphism, Single Nucleotide, Sjogren's Syndrome/genetics
in
Nature Communications
volume
13
issue
1
article number
4287
publisher
Nature Publishing Group
external identifiers
  • pmid:35896530
ISSN
2041-1723
DOI
10.1038/s41467-022-30773-y
language
English
LU publication?
yes
additional info
© 2022. The Author(s).
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f459ade0-135d-49e1-8e98-84488dce87bd
date added to LUP
2022-07-30 10:38:55
date last changed
2022-08-01 15:08:41
@article{f459ade0-135d-49e1-8e98-84488dce87bd,
  abstract     = {{<p>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 &gt;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.</p>}},
  author       = {{Khatri, Bhuwan and Tessneer, Kandice L and Rasmussen, Astrid and Aghakhanian, Farhang and Reksten, Tove Ragna and Adler, Adam and Alevizos, Ilias and Anaya, Juan-Manuel and Aqrawi, Lara A and Baecklund, Eva and Brun, Johan G and Bucher, Sara Magnusson and Eloranta, Maija-Leena and Engelke, Fiona and Forsblad-d'Elia, Helena and Glenn, Stuart B and Hammenfors, Daniel and Imgenberg-Kreuz, Juliana and Jensen, Janicke Liaaen and Johnsen, Svein Joar Auglænd and Jonsson, Malin V and Kvarnström, Marika and Kelly, Jennifer A and Li, He and Mandl, Thomas and Martín, Javier and Nocturne, Gaétane and Norheim, Katrine Brække and Palm, Øyvind and Skarstein, Kathrine and Stolarczyk, Anna M and Taylor, Kimberly E and Teruel, Maria and Theander, Elke and Venuturupalli, Swamy and Wallace, Daniel J and Grundahl, Kiely M and Hefner, Kimberly S and Radfar, Lida and Lewis, David M and Stone, Donald U and Kaufman, C Erick and Brennan, Michael T and Guthridge, Joel M and James, Judith A and Scofield, R Hal and Gaffney, Patrick M and Criswell, Lindsey A and Jonsson, Roland and Eriksson, Per and Bowman, Simon J and Omdal, Roald and Lessard, Christopher J}},
  issn         = {{2041-1723}},
  keywords     = {{Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; Polymorphism, Single Nucleotide; Sjogren's Syndrome/genetics}},
  language     = {{eng}},
  month        = {{07}},
  number       = {{1}},
  publisher    = {{Nature Publishing Group}},
  series       = {{Nature Communications}},
  title        = {{Genome-wide association study identifies Sjögren's risk loci with functional implications in immune and glandular cells}},
  url          = {{http://dx.doi.org/10.1038/s41467-022-30773-y}},
  doi          = {{10.1038/s41467-022-30773-y}},
  volume       = {{13}},
  year         = {{2022}},
}