{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T19:30:48Z","timestamp":1793302248224,"version":"4.5.0"},"reference-count":28,"publisher":"The Endocrine Society","issue":"8","license":[{"start":{"date-parts":[[2024,11,8]],"date-time":"2024-11-08T00:00:00Z","timestamp":1731024000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Osteogenesis imperfecta (OI) is a rare genetic bone disorder characterized by recurrent fractures. In adults, the value of bone mineral density (BMD) in fracture risk is unknown.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>We prospectively investigated changes in BMD over time and analyzed the determinants of fracture in OI.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Among 106 individuals with grade 1 and 4 OI in the Reference Centre of Rare Bone Diseases in Paris, we included those with BMD measurements at 1 or more skeletal sites (hip, lumbar spine, radius) from 2000 to 2022.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>For 71 individuals with reliable measurements (44 women, 8 postmenopausal; mean age 41.4 \u00b1 13.7 years), baseline BMD was low at the lumbar spine only (mean Z-score \u22122.3 \u00b1 1.5), affecting mainly men (mean Z-score \u22123 \u00b1 1.6). Longitudinal changes were assessed for a median follow-up of 5.1 years (interquartile range 3.2-8.8). On adjustment for age, sex, and body mass index, BMD did not significantly change at any site. Logistic regression analysis revealed a high probability of fracture with baseline BMD Z-score &amp;lt;\u22122 SD vs \u2265\u22122 SD [odds ratio 4.38, 95% confidence interval (CI) 1.10-21.75, P = .048] and harboring splicing, stop codon, and frameshift variants of COL1 gene (odds ratio 29.8, 95% CI 2.56-1503, P = .024).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Our OI cohort showed low BMD at the lumbar spine but no significant change at any site after a median of 5.0 years of follow-up. The probability of fracture was associated with baseline BMD Z-score &amp;lt;\u22122 SD vs \u2265\u22122 SD and harboring COL1 splicing, stop codon, and frameshift variants.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgae791","type":"journal-article","created":{"date-parts":[[2024,11,8]],"date-time":"2024-11-08T15:14:54Z","timestamp":1731078894000},"page":"2307-2313","source":"Crossref","is-referenced-by-count":6,"title":["Genetics and Bone Mineral Density Predict the Fractures in Adults With Osteogenesis Imperfecta: A Prospective Study"],"prefix":"10.1210","volume":"110","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5774-8878","authenticated-orcid":false,"given":"Camille","family":"Blandin","sequence":"first","affiliation":[{"name":"Reference Center for Rare Bone Diseases and Department of Rheumatology, H\u00f4pital Lariboisi\u00e8re, APHP, Universit\u00e9 Paris Cit\u00e9 , F-75010 Paris ,","place":["France"]},{"name":"INSERM UMR1132 BIOSCAR , F-75010 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6990-863X","authenticated-orcid":false,"given":"Corinne","family":"Collet","sequence":"additional","affiliation":[{"name":"Reference Center for Rare Bone Diseases and Department of Rheumatology, H\u00f4pital Lariboisi\u00e8re, APHP, Universit\u00e9 Paris Cit\u00e9 , F-75010 Paris ,","place":["France"]},{"name":"INSERM UMR1132 BIOSCAR , F-75010 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1966-3213","authenticated-orcid":false,"given":"Agnes","family":"Ostertag","sequence":"additional","affiliation":[{"name":"INSERM UMR1132 BIOSCAR , F-75010 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7684-2405","authenticated-orcid":false,"given":"Thomas","family":"Funck-Brentano","sequence":"additional","affiliation":[{"name":"Reference Center for Rare Bone Diseases and Department of Rheumatology, H\u00f4pital Lariboisi\u00e8re, APHP, Universit\u00e9 Paris Cit\u00e9 , F-75010 Paris ,","place":["France"]},{"name":"INSERM UMR1132 BIOSCAR , F-75010 Paris ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8582-8258","authenticated-orcid":false,"given":"Martine","family":"Cohen-Solal","sequence":"additional","affiliation":[{"name":"Reference Center for Rare Bone Diseases and Department of Rheumatology, H\u00f4pital Lariboisi\u00e8re, APHP, Universit\u00e9 Paris Cit\u00e9 , F-75010 Paris ,","place":["France"]},{"name":"INSERM UMR1132 BIOSCAR , F-75010 Paris 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