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 & Therapy
Jacques-Eric GottenbergCorinne Miceli-Richard

Abstract

Polyclonal B cell activation might be related to pathogenic over-expression of B-cell-activating factor (BAFF) in primary Sjögren'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...Continue Reading

References

Dec 10, 1999·The Journal of Experimental Medicine·F MackayJ L Browning
Jan 10, 2002·The Journal of Clinical Investigation·Joanna GroomFabienne Mackay
Nov 13, 2002·Annual Review of Immunology·Fabienne MackayJeffrey Browning
Jan 15, 2003·Annals of the Rheumatic Diseases·X MarietteR Kimberly
Jun 3, 2005·Nature·John D Rioux, Abul K Abbas
Feb 16, 2006·Proceedings of the National Academy of Sciences of the United States of America·Jacques-Eric GottenbergXavier Mariette

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Citations

Jul 24, 2012·Blood·Matthew ForeKristy L Richards
Mar 7, 2019·Rheumatology·Gaetane NocturneXavier Mariette
Feb 9, 2018·Nature Reviews. Rheumatology·Gaëtane Nocturne, Xavier Mariette
Aug 30, 2012·International Journal of Immunogenetics·E Rocha Amazonas de Almeida, M L Petzl-Erler
Oct 16, 2014·British Journal of Haematology·Gaetane Nocturne, Xavier Mariette
Dec 18, 2014·International Journal of Dermatology·Antonio Bascones-MartínezLuis Requena-Caballero
Dec 2, 2020·Journal of Clinical Medicine·Ioanna E StergiouMichael Voulgarelis
Apr 28, 2019·La Revue de médecine interne·G Nocturne
Dec 20, 2020·Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·Nikolaos-Panagiotis AndreouMaria Gazouli

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Methods Mentioned

BETA
PCR
enzyme-linked immunosorbent assay
transfectant
electrophoretic mobility shift assay

Software Mentioned

it
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