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No evidence for an association between the -871 T/C promoter polymorphism in the B-cell-activating factor gene and primary Sjögren's syndrome.

Abstract : Polyclonal B cell activation might be related to pathogenic over-expression of B-cell-activating factor (BAFF) in primary Sj?n's syndrome (pSS) and other autoimmune diseases. We therefore investigated whether BAFF over-expression in pSS could be a primary, genetically determined event that leads to the disease. The complete BAFF gene was sequenced in Caucasian pSS patients and control individuals. The only single nucleotide polymorphism frequently observed, namely -871 T/C in the promoter region, was then genotyped in 162 French patients with pSS and 90 French control individuals. No significant differences in allele (T allele frequency: 49.7% in patients with pSS versus 50% in controls; P = 0.94) and genotype frequencies of BAFF polymorphism were detected between pSS patients and control individuals. BAFF gene polymorphism was not associated with a specific pattern of antibody secretion either. T allele carriers had significantly increased BAFF protein serum levels (mean values of 8.6 and 5.7 ng/ml in patients with TT and TC genotypes, respectively, versus 3.3 ng/ml in patients with CC genotype; P = 0.01), although no correlation was observed between BAFF polymorphism and mRNA level. In conclusion, BAFF gene polymorphism is neither involved in genetic predisposition to pSS nor associated with a specific pattern of antibody production.
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https://www.hal.inserm.fr/inserm-00089238
Contributor : Delphine Autard <>
Submitted on : Wednesday, August 16, 2006 - 11:36:33 AM
Last modification on : Wednesday, September 16, 2020 - 5:08:21 PM
Long-term archiving on: : Tuesday, September 18, 2012 - 4:38:00 PM

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Jacques-Eric Gottenberg, Jérémie Sellam, Marc Ittah, Frédéric Lavie, Alexis Proust, et al.. No evidence for an association between the -871 T/C promoter polymorphism in the B-cell-activating factor gene and primary Sjögren's syndrome.. Arthritis Research and Therapy, BioMed Central, 2006, 8, pp.R30. ⟨10.1186/ar1884⟩. ⟨inserm-00089238⟩

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