Genetic susceptibility factors in a cohort of 38 patients with SAPHO syndrome: a study of PSTPIP2, NOD2, and LPIN2 genes

J Rheumatol. 2010 Feb;37(2):401-9. doi: 10.3899/jrheum.090456. Epub 2009 Dec 23.


Objective: The SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, and osteitis) is a rare disorder that mainly affects bone and skin. Chronic multifocal osteitis is the main diagnostic feature. Genetic studies of HLA genes have shown no role for these class II antigens, whereas studies of 2 mouse models (cmo and Lupo) point to a role of the PSTPIP2 gene. We analyzed the PSTPIP2 gene in patients with SAPHO syndrome.

Methods: In a cohort of 38 patients with SAPHO we analyzed PSTPIP2 and 2 other candidate genes, NOD2/CARD15 (Crohn's disease occurs in about 10% of SAPHO patients), and LPIN2 (clinical similarities of SAPHO with Majeed syndrome).

Results: Rare variants of the 3 genes observed in patients with SAPHO were not specific or were not found more frequently compared to controls, suggesting no major pathogenetic role of these genes in the SAPHO syndrome.

Conclusion: We found no association between PSTPIP2, NOD2, and LPIN2 variants and the SAPHO syndrome.

MeSH terms

  • Acquired Hyperostosis Syndrome / diagnosis
  • Acquired Hyperostosis Syndrome / genetics*
  • Adaptor Proteins, Signal Transducing / genetics*
  • Adolescent
  • Adult
  • Aged
  • Analysis of Variance
  • Case-Control Studies
  • Chi-Square Distribution
  • Child
  • Cytoskeletal Proteins / genetics*
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Male
  • Middle Aged
  • Nod2 Signaling Adaptor Protein / genetics*
  • Nuclear Proteins / genetics*
  • Statistics, Nonparametric
  • Surveys and Questionnaires


  • Adaptor Proteins, Signal Transducing
  • Cytoskeletal Proteins
  • LPIN2 protein, human
  • NOD2 protein, human
  • Nod2 Signaling Adaptor Protein
  • Nuclear Proteins
  • PSTPIP2 protein, human