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Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences. (Section of Rheumatology)
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Sciences, Molecular Medicine. (Section of Rheumatology)
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2011 (English)In: Genes and Immunity, ISSN 1466-4879, E-ISSN 1476-5470, Vol. 12, no 2, 100-109 p.Article in journal (Refereed) Published
Abstract [en]

We performed a candidate gene association study in 540 patients with primary Sjögren'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 × 10−5, OR 1.68, the family with sequence similarity 167 member A–B-lymphoid tyrosine kinase (FAM167A–BLK) locus, P=4.7 × 10−4, OR 1.37 and the tumor necrosis factor superfamily (TNFSF4=Ox40L) gene, P=7.4 × 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.

Place, publisher, year, edition, pages
2011. Vol. 12, no 2, 100-109 p.
Keyword [en]
primary Sjogren's syndrome, candidate genes, SNP, EBF1, BLK, TNFSF4
National Category
Medical and Health Sciences
Research subject
Medicine
Identifiers
URN: urn:nbn:se:uu:diva-131535DOI: 10.1038/gene.2010.44ISI: 000287962700005PubMedID: 20861858OAI: oai:DiVA.org:uu-131535DiVA: diva2:354743
Available from: 2010-10-04 Created: 2010-10-04 Last updated: 2017-04-10

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Nordmark, GunnelVasaitis, LilianEloranta, Maija-LeenaBaecklund, EvaRönnblom, LarsSyvänen, Ann-Christine

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Nordmark, GunnelVasaitis, LilianEloranta, Maija-LeenaBaecklund, EvaRönnblom, LarsSyvänen, Ann-Christine
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