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 Res Ther. 2006;8(1):R30. doi: 10.1186/ar1884. Epub 2006 Jan 9.

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 neither involved in genetic predisposition to pSS nor associated with a specific pattern of antibody production.

MeSH terms

  • Aged
  • B-Cell Activating Factor
  • Case-Control Studies
  • Cytosine
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease*
  • Genotype
  • Heterozygote
  • Humans
  • Male
  • Membrane Proteins / blood
  • Membrane Proteins / genetics*
  • Middle Aged
  • Polymorphism, Genetic
  • Polymorphism, Single Nucleotide
  • Promoter Regions, Genetic*
  • RNA, Messenger / blood
  • Sjogren's Syndrome / genetics*
  • Thymine
  • Tumor Necrosis Factor-alpha / genetics*

Substances

  • B-Cell Activating Factor
  • Membrane Proteins
  • RNA, Messenger
  • TNFSF13B protein, human
  • Tumor Necrosis Factor-alpha
  • Cytosine
  • Thymine