Objective: The syndrome of Synovitis, Acne, Pustulosis, Hyperostosis, osteitis (SAPHO) is a rare disease of unknown aetiology. The aim of the current study was to study whether SAPHO syndrome was associated with PSTPIP2, LPIN2, PSTPIP1, NOD2 and PTPN22 single nucleotide polymorphisms (SNPs). Methods: From a previously published clinical report, a sample of 58 SAPHO patients was selected. SNPs were tested for association with SAPHO syndrome in a case control design. Results: Allelic association was significant in PTPN22 for SNPs rs3811021 (p=0.006; OR=2.33[1.25-4.32]) and rs2476601 (p=0.43; OR=0.23[0.56-1.06]); in LPIN2 for SNP rs16944040 (p=0.04; OR=0.40[0.17-0.92]) and only marginally for SNP rs607549 (p=0.07; OR=0.62[0.37-1.04]). Rs3811021, rs16944040 and rs607549 genotypes were significantly associated under a dominant model (p=0.01,0.24,0.41 respectively). A common PTPN22 haplotype was significantly associated (p=0.0157). Conclusions: SNPs in PTPN22 and LPIN2 were associated with SAPHO syndrome. A protective role can be postulated for LPIN2. The probable implication of PTPN22 in a R620W independent manner emerges as the most relevant result of this work.

Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) syndrome: is PTPN22 involved?

PIPPUCCI, TOMMASO;MARCONI, CATERINA;MAGINI, PAMELA;ROMEO, GIOVANNI;SERI, MARCO
2012

Abstract

Objective: The syndrome of Synovitis, Acne, Pustulosis, Hyperostosis, osteitis (SAPHO) is a rare disease of unknown aetiology. The aim of the current study was to study whether SAPHO syndrome was associated with PSTPIP2, LPIN2, PSTPIP1, NOD2 and PTPN22 single nucleotide polymorphisms (SNPs). Methods: From a previously published clinical report, a sample of 58 SAPHO patients was selected. SNPs were tested for association with SAPHO syndrome in a case control design. Results: Allelic association was significant in PTPN22 for SNPs rs3811021 (p=0.006; OR=2.33[1.25-4.32]) and rs2476601 (p=0.43; OR=0.23[0.56-1.06]); in LPIN2 for SNP rs16944040 (p=0.04; OR=0.40[0.17-0.92]) and only marginally for SNP rs607549 (p=0.07; OR=0.62[0.37-1.04]). Rs3811021, rs16944040 and rs607549 genotypes were significantly associated under a dominant model (p=0.01,0.24,0.41 respectively). A common PTPN22 haplotype was significantly associated (p=0.0157). Conclusions: SNPs in PTPN22 and LPIN2 were associated with SAPHO syndrome. A protective role can be postulated for LPIN2. The probable implication of PTPN22 in a R620W independent manner emerges as the most relevant result of this work.
Colina M; Pippucci T; Moro MA; Marconi C; Magini P; Ciancio G; Romeo G; Trotta F; Seri M.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/125291
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