Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjogren's syndrome
(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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https://lup.lub.lu.se/record/1869304
- author
- organization
- publishing date
- 2011
- type
- Contribution to journal
- publication status
- published
- subject
- 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
- pmid:20861858
- ISSN
- 1476-5470
- DOI
- 10.1038/gene.2010.44
- language
- English
- LU publication?
- yes
- additional info
- The information about affiliations in this record was updated in December 2015. The record was previously connected to the following departments: Emergency medicine/Medicine/Surgery (013240200)
- id
- 7d2d9363-6f11-4578-9b46-9d8c12c937cb (old id 1869304)
- date added to LUP
- 2016-04-01 10:43:54
- date last changed
- 2022-01-26 01:58:28
@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}}, keywords = {{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}}, doi = {{10.1038/gene.2010.44}}, volume = {{12}}, year = {{2011}}, }