Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome
Copyright policy )Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome
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.
- Linköping University Sweden
- Stavanger University Hospital Norway
- Haukeland University Hospital Norway
- Swedish University of Agricultural Sciences Sweden
- University of Bergen Norway
Male, Sweden, B-Lymphocytes, Interleukin-6, Norway, OX40 Ligand, Middle Aged, Protein-Tyrosine Kinases, STAT4 Transcription Factor, Lymphocyte Activation, Polymorphism, Single Nucleotide, Cohort Studies, Sjogren's Syndrome, Case-Control Studies, Interferon Regulatory Factors, Trans-Activators, Humans, Female, Genetic Predisposition to Disease
Male, Sweden, B-Lymphocytes, Interleukin-6, Norway, OX40 Ligand, Middle Aged, Protein-Tyrosine Kinases, STAT4 Transcription Factor, Lymphocyte Activation, Polymorphism, Single Nucleotide, Cohort Studies, Sjogren's Syndrome, Case-Control Studies, Interferon Regulatory Factors, Trans-Activators, Humans, Female, Genetic Predisposition to Disease
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