{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T19:21:57Z","timestamp":1791400917212,"version":"4.3.3"},"reference-count":48,"publisher":"British Editorial Society of Bone & Joint Surgery","issue":"11","license":[{"start":{"date-parts":[[2008,11,1]],"date-time":"2008-11-01T00:00:00Z","timestamp":1225497600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/online.boneandjoint.org.uk\/TDM"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Journal of Bone and Joint Surgery. British volume"],"published-print":{"date-parts":[[2008,11]]},"abstract":"<jats:p> The role of heritable thrombophilic risk factors in the pathogenesis of the Perthes\u2019 disease is controversial. The clinical and radiological findings of Perthes\u2019 disease may be indistinguishable from those of Gaucher\u2019s disease, and the most common Jewish N370S Gaucher mutation is threefold greater in patients with Perthes\u2019 disease. Familial osteonecrosis of the femoral head is associated with variant mutations of collagen type II (COL2A1 mutations). We therefore studied the potential role of genetic thrombophilia and the Gaucher and COL2A1 mutations in children with Perthes\u2019 disease. <\/jats:p><jats:p> Genomic DNA of 119 children with radiologically-confirmed Perthes\u2019 disease diagnosed between 1986 and 2005 was analysed for the thrombophilic polymorphisms Factor V Leiden, 677T-MTHFR and FIIG20210A. The results were compared with those of a group of 276 children without Perthes\u2019 disease. DNA was also analysed for the Gaucher mutations N370S, G insertion (84GG), L444P, Intron 2 (IVS2+1G&gt; A) and R496H. Enzymic assays confirmed the Gaucher disease status. Collagen (COL2A1) mutations of the 12q13 gene were also analysed. The prevalence of thrombophilic markers was similar among the 119 patients with Perthes\u2019 disease and the 276 control subjects. The prevalence of the Gaucher mutation was consistent with Israeli population carriership data and did not confirm an earlier-claimed association with Perthes\u2019 disease. All 199 patients were negative for the studied COL2A1 mutations. <\/jats:p><jats:p> We found no genetic association between Perthes\u2019 disease and either Gaucher\u2019s disease or COL2A1 mutations or increased genetic thrombophilia among our patients compared with the control group. A systematic review of case-control studies suggested that there was a positive association between Perthes\u2019 disease and Factor V Leiden. The impact of this association upon the disease, although not consistent across the studies, remains unclear. <\/jats:p>","DOI":"10.1302\/0301-620x.90b11.20318","type":"journal-article","created":{"date-parts":[[2008,11,3]],"date-time":"2008-11-03T14:00:10Z","timestamp":1225720810000},"page":"1507-1511","source":"Crossref","is-referenced-by-count":42,"title":["Perthes\u2019 disease and the search for genetic associations"],"prefix":"10.1302","volume":"90-B","author":[{"given":"G.","family":"Kenet","sequence":"first","affiliation":[{"name":"Pediatric Coagulation Service, National Haemophilia Center, Sheba Medical Center, Tel Hashomer 52621, Israel."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Ezra","sequence":"additional","affiliation":[{"name":"Department of Paediatric Orthopaedics, Dana Children\u2019s Hospital, Tel Aviv Medical Centre, Sackler Faculty of Medicine, 6 Weizman Street, Tel Aviv 64239, Israel."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Wientroub","sequence":"additional","affiliation":[{"name":"Department of Paediatric Orthopaedics, Dana Children\u2019s Hospital, Tel Aviv Medical Centre, Sackler Faculty of Medicine, 6 Weizman Street, Tel Aviv 64239, Israel."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. 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