{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T04:27:29Z","timestamp":1790742449531,"version":"4.1.0"},"reference-count":50,"publisher":"The Journal of Rheumatology","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Rheumatol"],"published-print":{"date-parts":[[2010,2]]},"abstract":"<jats:sec><jats:title>Objective.<\/jats:title><jats:p> 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 <jats:italic>(cmo<\/jats:italic> and <jats:italic>Lupo)<\/jats:italic> point to a role of the <jats:italic>PSTPIP2<\/jats:italic> gene. We analyzed the <jats:italic>PSTPIP2<\/jats:italic> gene in patients with SAPHO syndrome.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods.<\/jats:title><jats:p> In a cohort of 38 patients with SAPHO we analyzed <jats:italic>PSTPIP2<\/jats:italic> and 2 other candidate genes, <jats:italic>NOD2\/CARD15<\/jats:italic> (Crohn's disease occurs in about 10% of SAPHO patients), and <jats:italic>LPIN2<\/jats:italic> (clinical similarities of SAPHO with Majeed syndrome).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results.<\/jats:title><jats:p> 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion.<\/jats:title><jats:p> We found no association between <jats:italic>PSTPIP2, NOD2,<\/jats:italic> and <jats:italic>LPIN2<\/jats:italic> variants and the SAPHO syndrome.<\/jats:p><\/jats:sec>","DOI":"10.3899\/jrheum.090456","type":"journal-article","created":{"date-parts":[[2009,12,23]],"date-time":"2009-12-23T21:39:22Z","timestamp":1261604362000},"page":"401-409","source":"Crossref","is-referenced-by-count":81,"title":["Genetic Susceptibility Factors in a Cohort of 38 Patients with SAPHO Syndrome: A Study of <i>PSTPIP2, NOD2,<\/i> and <i>LPIN2<\/i> Genes"],"prefix":"10.3899","volume":"37","author":[{"given":"MARGARITA","family":"HURTADO-NEDELEC","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SYLVIE","family":"CHOLLET-MARTIN","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"DIANA","family":"CHAPETON","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JEAN-PIERRE","family":"HUGOT","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"GILLES","family":"HAYEM","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00c9N\u00c9DICTE","family":"G\u00c9RARD","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2262","published-online":{"date-parts":[[2009,12,23]]},"reference":[{"key":"2018112909215967000_37.2.401.1","doi-asserted-by":"publisher","DOI":"10.1053\/sarh.2000.8371"},{"key":"2018112909215967000_37.2.401.2","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.45.1628"},{"key":"2018112909215967000_37.2.401.3","first-page":"460","article-title":"SAPHO syndrome: misdiagnosed and operated","volume":"33","author":"Karadag-Saygi","year":"2008","journal-title":"Acta Reumatol Port"},{"key":"2018112909215967000_37.2.401.4","first-page":"457","article-title":"Propionibacterium acnes and SAPHO syndrome: a case report and literature review","volume":"25","author":"Colina","year":"2007","journal-title":"Clin Exp Rheumatol"},{"key":"2018112909215967000_37.2.401.5","doi-asserted-by":"publisher","DOI":"10.1002\/1529-0131(200012)43:12<2843::AID-ANR26>3.0.CO;2-2"},{"key":"2018112909215967000_37.2.401.6","first-page":"1302","article-title":"Propionibacterium acnes isolated from sternal osteitis in a patient with SAPHO syndrome","volume":"23","author":"Kotilainen","year":"1996","journal-title":"J Rheumatol"},{"key":"2018112909215967000_37.2.401.7","first-page":"349","article-title":"Tibial hyperostosis and Propionibacterium acnes [French]","volume":"59","author":"Pillon","year":"1992","journal-title":"Rev Rhum Mal Osteoartic"},{"key":"2018112909215967000_37.2.401.8","doi-asserted-by":"publisher","DOI":"10.1002\/1529-0131(199810)41:10<1889::AID-ART23>3.0.CO;2-F"},{"key":"2018112909215967000_37.2.401.9","first-page":"187","article-title":"Acne-pustulosis-hyperostosis-osteitis syndrome. 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