CSK regulatory polymorphism is associated with systemic lupus erythematosus and influences B-cell signaling and activation

Nat Genet. 2012 Nov;44(11):1227-30. doi: 10.1038/ng.2439. Epub 2012 Oct 7.

Abstract

The c-Src tyrosine kinase, Csk, physically interacts with the intracellular phosphatase Lyp (encoded by PTPN22) and can modify the activation state of downstream Src kinases, such as Lyn, in lymphocytes. We identified an association of CSK with systemic lupus erythematosus (SLE) and refined its location to the intronic polymorphism rs34933034 (odds ratio (OR) = 1.32; P = 1.04 × 10(-9)). The risk allele at this SNP is associated with increased CSK expression and augments inhibitory phosphorylation of Lyn. In carriers of the risk allele, there is increased B-cell receptor (BCR)-mediated activation of mature B cells, as well as higher concentrations of plasma immunoglobulin M (IgM), relative to individuals with the non-risk haplotype. Moreover, the fraction of transitional B cells is doubled in the cord blood of carriers of the risk allele, due to an expansion of late transitional cells in a stage targeted by selection mechanisms. This suggests that the Lyp-Csk complex increases susceptibility to lupus at multiple maturation and activation points in B cells.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • B-Lymphocytes / cytology
  • B-Lymphocytes / metabolism*
  • CSK Tyrosine-Protein Kinase
  • Genetic Association Studies
  • Humans
  • Introns
  • Lupus Erythematosus, Systemic / genetics
  • Phosphorylation
  • Polymorphism, Single Nucleotide
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22 / genetics*
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22 / metabolism
  • Regulatory Sequences, Nucleic Acid / genetics*
  • Signal Transduction
  • src-Family Kinases* / genetics
  • src-Family Kinases* / metabolism

Substances

  • CSK Tyrosine-Protein Kinase
  • lyn protein-tyrosine kinase
  • src-Family Kinases
  • CSK protein, human
  • PTPN22 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22