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A functional polymorphism of TIR-domain-containing adaptor protein is not associated with axial spondyloarthritis
  1. Tineke Cantaert (t.cantaert{at}amc.uva.nl)
  1. Academic Medical Center/university of Amsterdam, Netherlands
    1. Millicent A Stone (m.stone{at}bath.ac.uk)
    1. Royal National Hospital Rheumatic Diseases, University of Bath, United Kingdom
      1. Mariette Terborg (m.n.terborg{at}amc.uva.nl)
      1. Academic Medical Center/University of Amsterdam, Netherlands
        1. Rebecca Mog (rebeccamogg{at}birdbath.org.uk)
        1. Royal National Hospital Rheumatic Diseases, University of Bath, Netherlands
          1. Niek de Vries (niek.devries{at}amc.uva.nl)
          1. Academic Medical Center/University of Amsterdam, Netherlands
            1. Anthony G Wilson (a.g.wilson{at}sheffield.ac.uk)
            1. University of Sheffield, United Kingdom
              1. Paul-Peter Tak (p.p.tak{at}amc.uva.nl)
              1. Academic Medical Center/University of Amsterdam, Netherlands
                1. Dominique Baeten (d.l.baeten{at}amc.uva.nl)
                1. Academic Medical Center/University of Amsterdam, Netherlands

                  Abstract

                  Objective: A genetic variant of the TLR2/4 adaptor protein TIRAP (SNPC539T) was identified in a UK and in several African populations. The heterozygous genotype of this SNP has been associated with protection from severe infections. This allele results in an attenuated response to bacterial pathogens. As an exaggerated innate immune response to pathogens has been implicated in spondyloarthritis (SpA) pathogenesis, we analyzed if the heterozygous C/T genotype was underrepresented in axial SpA compared to healthy controls.

                  Methods: 204 axial SpA patients and 175 population-matched controls were included. SNP C539T was determined with a sequence specific PCR and direct sequencing.

                  Results: The frequency of the haplotypes was similar in cases and controls (87% for C and 13% for T in both groups). The C/T genotype, which attenuates TLR signalling, was not underrepresented in cases versus controls (19% in controls versus 24% in cases, p=0.44). The T/T genotype, was slightly lower in cases than in controls, although this was not significant (3.4% in controls versus 1% in cases, p=0.15). Within the cases, there were no differences in disease phenotype or activity between patients with the C/C or C/T genotype.

                  Conclusion: This study did not show significant associations of SNP S180L of the TLR2/4 adaptor protein TIRAP with axial SpA.

                  • TLR signalling
                  • polymorphism
                  • spondyloarthritis

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