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Association of Genes in the NF-kappa B Pathway with Antibody-Positive Primary Sjogren's Syndrome

Nordmark, Gunnel ; Wang, Chuan ; Vasaitis, Lilian ; Eriksson, Per ; Theander, Elke LU ; Kvarnstrom, Marika ; Forsblad-d'Elia, Helena ; Jazebi, Helmi ; Sjowall, Christopher and Reksten, Tove Ragna , et al. (2013) In Scandinavian Journal of Immunology 78(5). p.447-454
Abstract
Primary Sjogren's syndrome (SS) is a systemic autoimmune inflammatory disease characterized by focal lymphocytic infiltrates in the lachrymal and salivary glands and autoantibodies against the SSA/Ro and SSB/La antigens. Experimental studies have shown an activation of NF-B in primary SS. NF-B activation results in inflammation and autoimmunity and is regulated by inhibitory and activating proteins. Genetic studies have shown an association between multiple autoimmune diseases and TNFAIP3 (A20) and TNIP1 (ABIN1), both repressors of NF-B and of IKBKE (IKK epsilon), which is an NF-B activator. The aim of this study was to analyse single nucleotide polymorphisms (SNPs) in the IKBKE, NFKB1, TNIP1 and TNFAIP3 genes for association with primary... (More)
Primary Sjogren's syndrome (SS) is a systemic autoimmune inflammatory disease characterized by focal lymphocytic infiltrates in the lachrymal and salivary glands and autoantibodies against the SSA/Ro and SSB/La antigens. Experimental studies have shown an activation of NF-B in primary SS. NF-B activation results in inflammation and autoimmunity and is regulated by inhibitory and activating proteins. Genetic studies have shown an association between multiple autoimmune diseases and TNFAIP3 (A20) and TNIP1 (ABIN1), both repressors of NF-B and of IKBKE (IKK epsilon), which is an NF-B activator. The aim of this study was to analyse single nucleotide polymorphisms (SNPs) in the IKBKE, NFKB1, TNIP1 and TNFAIP3 genes for association with primary SS. A total of 12 SNPs were genotyped in 1105 patients from Scandinavia (Sweden and Norway, n=684) and the UK (n=421) and 4460 controls (Scandinavia, n=1662, UK, n=2798). When patients were stratified for the presence of anti-SSA and/or anti-SSB antibodies (n=868), case-control meta-analysis found an association between antibody-positive primary SS and two SNPs in TNIP1 (P=3.4x10(-5), OR=1.33, 95%CI: 1.16-1.52 for rs3792783 and P=1.3x10(-3), OR=1.21, 95%CI: 1.08-1.36 for rs7708392). A TNIP1 risk haplotype was associated with antibody-positive primary SS (P=5.7x10(-3), OR=1.47, 95%CI: 1.12-1.92). There were no significant associations with IKBKE, NFKB1 or TNFAIP3 in the meta-analysis of the Scandinavian and UK cohorts. We conclude that polymorphisms in TNIP1 are associated with antibody-positive primary SS. (Less)
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organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Scandinavian Journal of Immunology
volume
78
issue
5
pages
447 - 454
publisher
Wiley-Blackwell
external identifiers
  • wos:000326077600007
  • scopus:84886733689
ISSN
1365-3083
DOI
10.1111/sji.12101
language
English
LU publication?
yes
id
93aff1ac-031a-47fd-98ee-f3c84a54ccf6 (old id 4212667)
date added to LUP
2016-04-01 13:45:13
date last changed
2022-03-14 01:43:04
@article{93aff1ac-031a-47fd-98ee-f3c84a54ccf6,
  abstract     = {{Primary Sjogren's syndrome (SS) is a systemic autoimmune inflammatory disease characterized by focal lymphocytic infiltrates in the lachrymal and salivary glands and autoantibodies against the SSA/Ro and SSB/La antigens. Experimental studies have shown an activation of NF-B in primary SS. NF-B activation results in inflammation and autoimmunity and is regulated by inhibitory and activating proteins. Genetic studies have shown an association between multiple autoimmune diseases and TNFAIP3 (A20) and TNIP1 (ABIN1), both repressors of NF-B and of IKBKE (IKK epsilon), which is an NF-B activator. The aim of this study was to analyse single nucleotide polymorphisms (SNPs) in the IKBKE, NFKB1, TNIP1 and TNFAIP3 genes for association with primary SS. A total of 12 SNPs were genotyped in 1105 patients from Scandinavia (Sweden and Norway, n=684) and the UK (n=421) and 4460 controls (Scandinavia, n=1662, UK, n=2798). When patients were stratified for the presence of anti-SSA and/or anti-SSB antibodies (n=868), case-control meta-analysis found an association between antibody-positive primary SS and two SNPs in TNIP1 (P=3.4x10(-5), OR=1.33, 95%CI: 1.16-1.52 for rs3792783 and P=1.3x10(-3), OR=1.21, 95%CI: 1.08-1.36 for rs7708392). A TNIP1 risk haplotype was associated with antibody-positive primary SS (P=5.7x10(-3), OR=1.47, 95%CI: 1.12-1.92). There were no significant associations with IKBKE, NFKB1 or TNFAIP3 in the meta-analysis of the Scandinavian and UK cohorts. We conclude that polymorphisms in TNIP1 are associated with antibody-positive primary SS.}},
  author       = {{Nordmark, Gunnel and Wang, Chuan and Vasaitis, Lilian and Eriksson, Per and Theander, Elke and Kvarnstrom, Marika and Forsblad-d'Elia, Helena and Jazebi, Helmi and Sjowall, Christopher and Reksten, Tove Ragna and Brun, Johan G. and Jonsson, Malin V. and Johnsen, Svein J. and Wahren-Herlenius, Marie and Omdal, Roald and Jonsson, Roland and Bowman, Simon and Ng, Wan-Fai and Eloranta, Maija-Leena and Syvanen, Ann-Christine}},
  issn         = {{1365-3083}},
  language     = {{eng}},
  number       = {{5}},
  pages        = {{447--454}},
  publisher    = {{Wiley-Blackwell}},
  series       = {{Scandinavian Journal of Immunology}},
  title        = {{Association of Genes in the NF-kappa B Pathway with Antibody-Positive Primary Sjogren's Syndrome}},
  url          = {{http://dx.doi.org/10.1111/sji.12101}},
  doi          = {{10.1111/sji.12101}},
  volume       = {{78}},
  year         = {{2013}},
}