{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T20:28:34Z","timestamp":1770236914060,"version":"3.49.0"},"reference-count":18,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2024,11,21]],"date-time":"2024-11-21T00:00:00Z","timestamp":1732147200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,12,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>In a 2015 study of SQSTM1 mutation carriers who had initial negative bone scintigraphy, we found that the rate of development of Paget\u2019s disease of bone (PDB) over 5\u00a0yr was low. We report here an additional 8-yr follow-up of this cohort, exploring the hypothesis that the rate of development of PDB would increase as the cohort aged. In the current study, 21 of 24 subjects from 2015 who had a negative bone scintiscan at baseline and at first follow-up, had a repeat scintiscan and measurement of total serum alkaline phosphatase activity. Two subjects with P392L mutations were identified as having PDB (monostotic in one case, 2 bones involved in the other), giving an incidence during this follow-up period of 1 per 87 patient years or 11.9 per 1000 patient years. This was contrary to our hypothesis, as the rate of development had decreased as the cohort aged. When we compared by survival analysis the age at presentation with symptomatic PDB in the older generation, we found that the age of onset was later and disease severity in the affected relatives was markedly less than in their clinically affected parents (p\u00a0&amp;lt;\u2009.001). Our results are in keeping with other recently published studies and the general secular trend in PDB and support the idea that an important environmental-genetic interaction is involved with the development of PDB and that exposure to the putative environmental factor has substantially reduced.<\/jats:p>","DOI":"10.1093\/jbmrpl\/ziae148","type":"journal-article","created":{"date-parts":[[2024,11,21]],"date-time":"2024-11-21T12:17:38Z","timestamp":1732191458000},"source":"Crossref","is-referenced-by-count":1,"title":["Development of Paget\u2019s disease of bone in adults inheriting <i>SQSTM1<\/i> mutations: a long-term follow-up"],"prefix":"10.1093","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1792-8580","authenticated-orcid":false,"given":"Susannah","family":"O\u2019Sullivan","sequence":"first","affiliation":[{"name":"Department of Endocrinology, Te Whatu Ora Auckland, Auckland 1142, New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark","family":"Bolland","sequence":"additional","affiliation":[{"name":"Department of Medicine, FMHS, University of Auckland , Auckland 1023 ,","place":["New Zealand"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4890-9400","authenticated-orcid":false,"given":"Tim","family":"Cundy","sequence":"additional","affiliation":[{"name":"Department of Medicine, FMHS, University of Auckland , Auckland 1023 ,","place":["New Zealand"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,11,21]]},"reference":[{"issue":"5","key":"2024121207155116300_ref1","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1007\/s00223-019-00522-3","article-title":"Paget's disease of bone","volume":"104","author":"Gennari","year":"2019","journal-title":"Calcif Tissue Int"},{"key":"2024121207155116300_ref2","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1016\/B978-0-12-804182-6.00025-3","volume-title":"Genetics of Bone Biology and Skeletal Disease","author":"Ralston","year":"2018","edition":"Second ed."},{"issue":"2","key":"2024121207155116300_ref3","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1359\/jbmr.1999.14.2.192","article-title":"The epidemiology of Paget's disease in Britain: is the prevalence decreasing?","volume":"14","author":"Cooper","year":"1999","journal-title":"J Bone Miner Res"},{"issue":"5","key":"2024121207155116300_ref4","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1007\/s00223-004-0281-z","article-title":"Paget's disease of bone in New Zealand: continued decline in disease severity","volume":"75","author":"Cundy","year":"2004","journal-title":"Calcif Tissue Int"},{"issue":"10","key":"2024121207155116300_ref5","doi-asserted-by":"publisher","first-page":"1545","DOI":"10.1359\/jbmr.060704","article-title":"Epidemiology of Paget's disease in Europe: the prevalence is decreasing","volume":"21","author":"Poor","year":"2006","journal-title":"J Bone Miner Res"},{"issue":"9","key":"2024121207155116300_ref6","doi-asserted-by":"publisher","first-page":"1795","DOI":"10.1007\/s00198-020-05789-z","article-title":"Decreasing severity of Paget's disease of bone in northern Italy over the last two decades: results of a monocentric study on 391 patients","volume":"32","author":"Varenna","year":"2021","journal-title":"Osteoporos Int"},{"key":"2024121207155116300_ref7","doi-asserted-by":"publisher","first-page":"116895","DOI":"10.1016\/j.bone.2023.116895","article-title":"Prevalence and incidence of Paget's disease of bone: temporal trend over 20 years in the province of Quebec, Canada","volume":"176","author":"Michou","year":"2023","journal-title":"Bone"},{"issue":"3","key":"2024121207155116300_ref8","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1359\/jbmr.061204","article-title":"Delayed development of Paget's disease in offspring inheriting SQSTM1 mutations","volume":"22","author":"Bolland","year":"2007","journal-title":"J Bone Miner Res"},{"issue":"3","key":"2024121207155116300_ref9","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1111\/cen.12741","article-title":"Evolution of Paget's disease of bone in adults inheriting SQSTM1 mutations","volume":"83","author":"Cundy","year":"2015","journal-title":"Clin Endocrinol"},{"issue":"11","key":"2024121207155116300_ref10","doi-asserted-by":"publisher","first-page":"662","DOI":"10.1038\/nrendo.2015.138","article-title":"Paget's disease of bone-genetic and environmental factors","volume":"11","author":"Singer","year":"2015","journal-title":"Nat Rev Endocrinol"},{"issue":"12","key":"2024121207155116300_ref11","first-page":"759","article-title":"Analysis of disorders of the principal pathways of calcium metabolism in Paget's disease. Effects of calcitonin administration. 26 cases","volume":"42","author":"Coutris","year":"1975","journal-title":"Rev Rhum Mal Osteoartic"},{"key":"2024121207155116300_ref12","doi-asserted-by":"publisher","first-page":"115044","DOI":"10.1016\/j.bone.2019.115044","article-title":"Familial Paget's disease of bone: long-term follow-up of unaffected relatives with and without Sequestosome 1 mutations","volume":"128","author":"Peeters","year":"2019","journal-title":"Bone"},{"key":"2024121207155116300_ref13","doi-asserted-by":"publisher","first-page":"100717","DOI":"10.1016\/j.bonr.2020.100717","article-title":"Clinical phenotype of adult offspring carriers of the p.Pro392Leu mutation within the SQSTM1 gene in Paget's disease of bone","volume":"13","author":"Dessay","year":"2020","journal-title":"Bone Rep"},{"issue":"4","key":"2024121207155116300_ref14","doi-asserted-by":"publisher","first-page":"529","DOI":"10.1136\/ard-2023-224990","article-title":"Randomised trial of genetic testing and targeted intervention to prevent the development and progression of Paget's disease of bone","volume":"83","author":"Phillips","year":"2024","journal-title":"Ann Rheum Dis"},{"issue":"Suppl 2","key":"2024121207155116300_ref15","doi-asserted-by":"publisher","first-page":"P38","DOI":"10.1359\/jbmr.06s207","article-title":"Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone","volume":"21","author":"Morissette","year":"2006","journal-title":"J Bone Miner Res"},{"issue":"3","key":"2024121207155116300_ref16","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1016\/j.jbspin.2018.12.007","article-title":"Gene-environment interactions in Paget's disease of bone","volume":"86","author":"Numan","year":"2019","journal-title":"Joint Bone Spine"},{"issue":"2","key":"2024121207155116300_ref17","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1007\/s00223-024-01241-0","article-title":"The decline of Paget's disease of bone and domestic coal use-a hypothesis","volume":"115","author":"Cundy","year":"2024","journal-title":"Calcif Tissue Int"},{"issue":"12","key":"2024121207155116300_ref18","doi-asserted-by":"publisher","first-page":"5668","DOI":"10.1093\/rheumatology\/keab232","article-title":"Incidence of Paget's disease of bone in the UK: evidence of a continuing decline","volume":"60","author":"Cook","year":"2021","journal-title":"Rheumatology (Oxford)"}],"container-title":["JBMR Plus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jbmrplus\/advance-article-pdf\/doi\/10.1093\/jbmrpl\/ziae148\/60778074\/ziae148.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jbmrplus\/article-pdf\/9\/1\/ziae148\/61051530\/ziae148.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jbmrplus\/article-pdf\/9\/1\/ziae148\/61051530\/ziae148.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,12]],"date-time":"2024-12-12T07:16:00Z","timestamp":1733987760000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jbmrplus\/article\/doi\/10.1093\/jbmrpl\/ziae148\/7906301"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11,21]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,12,3]]}},"URL":"https:\/\/doi.org\/10.1093\/jbmrpl\/ziae148","relation":{},"ISSN":["2473-4039"],"issn-type":[{"value":"2473-4039","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,1]]},"published":{"date-parts":[[2024,11,21]]},"article-number":"ziae148"}}