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Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjogren's syndrome

Nordmark, G.; Kristjansdottir, G.; Theander, Elke LU ; Appel, S.; Eriksson, P.; Vasaitis, L.; Kvarnstrom, M.; Delaleu, N.; Lundmark, P. and Lundmark, A., et al. (2011) In Genes and Immunity 12(2). p.100-109
Abstract
We performed a candidate gene association study in 540 patients with primary Sjogren's Syndrome (SS) from Sweden (n = 344) and Norway (n = 196) and 532 controls (n = 319 Swedish, n = 213 Norwegian). A total of 1139 single-nucleotide polymorphisms (SNPs) in 84 genes were analyzed. In the meta-analysis of the Swedish and Norwegian cohorts, we found high signals for association between primary SS and SNPs in three gene loci, not previously associated with primary SS. These are the early B-cell factor 1 (EBF1) gene, P = 9.9 x 10(-5), OR 1.68, the family with sequence similarity 167 member A-B-lymphoid tyrosine kinase (FAM167A-BLK) locus, P = 4.7 x 10(-4), OR 1.37 and the tumor necrosis factor superfamily (TNFSF4 = Ox40L) gene, P = 7.4 x... (More)
We performed a candidate gene association study in 540 patients with primary Sjogren's Syndrome (SS) from Sweden (n = 344) and Norway (n = 196) and 532 controls (n = 319 Swedish, n = 213 Norwegian). A total of 1139 single-nucleotide polymorphisms (SNPs) in 84 genes were analyzed. In the meta-analysis of the Swedish and Norwegian cohorts, we found high signals for association between primary SS and SNPs in three gene loci, not previously associated with primary SS. These are the early B-cell factor 1 (EBF1) gene, P = 9.9 x 10(-5), OR 1.68, the family with sequence similarity 167 member A-B-lymphoid tyrosine kinase (FAM167A-BLK) locus, P = 4.7 x 10(-4), OR 1.37 and the tumor necrosis factor superfamily (TNFSF4 = Ox40L) gene, P = 7.4 x 10(-4), OR 1.34. We also confirmed the association between primary SS and the IRF5/TNPO3 locus and the STAT4 gene. We found no association between the SNPs in these five genes and the presence of anti-SSA/anti-SSB antibodies. EBF1, BLK and TNFSF4 are all involved in B-cell differentiation and activation, and we conclude that polymorphisms in several susceptibility genes in the immune system contribute to the pathogenesis of primary SS. Genes and Immunity (2011) 12, 100-109; doi:10.1038/gene.2010.44; published online 23 September 2010 (Less)
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keywords
primary Sjogren's syndrome, candidate genes, SNP, EBF1, BLK, TNFSF4
in
Genes and Immunity
volume
12
issue
2
pages
100 - 109
publisher
Nature Publishing Group
external identifiers
  • wos:000287962700005
  • scopus:79952280367
ISSN
1476-5470
DOI
10.1038/gene.2010.44
language
English
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yes
id
7d2d9363-6f11-4578-9b46-9d8c12c937cb (old id 1869304)
date added to LUP
2011-04-04 09:12:40
date last changed
2017-08-27 03:33:21
@article{7d2d9363-6f11-4578-9b46-9d8c12c937cb,
  abstract     = {We performed a candidate gene association study in 540 patients with primary Sjogren's Syndrome (SS) from Sweden (n = 344) and Norway (n = 196) and 532 controls (n = 319 Swedish, n = 213 Norwegian). A total of 1139 single-nucleotide polymorphisms (SNPs) in 84 genes were analyzed. In the meta-analysis of the Swedish and Norwegian cohorts, we found high signals for association between primary SS and SNPs in three gene loci, not previously associated with primary SS. These are the early B-cell factor 1 (EBF1) gene, P = 9.9 x 10(-5), OR 1.68, the family with sequence similarity 167 member A-B-lymphoid tyrosine kinase (FAM167A-BLK) locus, P = 4.7 x 10(-4), OR 1.37 and the tumor necrosis factor superfamily (TNFSF4 = Ox40L) gene, P = 7.4 x 10(-4), OR 1.34. We also confirmed the association between primary SS and the IRF5/TNPO3 locus and the STAT4 gene. We found no association between the SNPs in these five genes and the presence of anti-SSA/anti-SSB antibodies. EBF1, BLK and TNFSF4 are all involved in B-cell differentiation and activation, and we conclude that polymorphisms in several susceptibility genes in the immune system contribute to the pathogenesis of primary SS. Genes and Immunity (2011) 12, 100-109; doi:10.1038/gene.2010.44; published online 23 September 2010},
  author       = {Nordmark, G. and Kristjansdottir, G. and Theander, Elke and Appel, S. and Eriksson, P. and Vasaitis, L. and Kvarnstrom, M. and Delaleu, N. and Lundmark, P. and Lundmark, A. and Sjowall, C. and Brun, J. G. and Jonsson, M. V. and Harboe, E. and Goransson, L. G. and Johnsen, S. J. and Soderkvist, P. and Eloranta, M-L and Alm, G. and Baecklund, E. and Wahren-Herlenius, M. and Omdal, R. and Ronnblom, L. and Jonsson, R. and Syvanen, A-C},
  issn         = {1476-5470},
  keyword      = {primary Sjogren's syndrome,candidate genes,SNP,EBF1,BLK,TNFSF4},
  language     = {eng},
  number       = {2},
  pages        = {100--109},
  publisher    = {Nature Publishing Group},
  series       = {Genes and Immunity},
  title        = {Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjogren's syndrome},
  url          = {http://dx.doi.org/10.1038/gene.2010.44},
  volume       = {12},
  year         = {2011},
}