TY - JOUR T1 - Genetic Susceptibility Factors in a Cohort of 38 Patients with SAPHO Syndrome: A Study of <em><em>PSTPIP2</em></em>, <em>NOD2</em>, and <em>LPIN2</em> Genes JF - The Journal of Rheumatology JO - J Rheumatol DO - 10.3899/jrheum.090456 SP - jrheum.090456 AU - Margarita Hurtado-Nedelec AU - Sylvie Chollet-Martin AU - Diana Chapeton AU - Jean-Pierre Hugot AU - Gilles Hayem AU - Bénédicte Gérard Y1 - 2009/12/23 UR - http://www.jrheum.org/content/early/2009/12/21/jrheum.090456.abstract N2 - 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. ER -