{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T23:19:05Z","timestamp":1792019945961,"version":"4.4.0"},"reference-count":49,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2025,7,16]],"date-time":"2025-07-16T00:00:00Z","timestamp":1752624000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["2021290"],"award-info":[{"award-number":["2021290"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,9,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Genome-wide association studies (GWAS) relevant to osteoporosis have identified hundreds of loci; however, understanding how these variants influence the phenotype is complicated because most reside in non-coding DNA sequence that serves as transcriptional enhancers and repressors. To advance knowledge on these regulatory elements in osteoclasts (OCs), we performed Micro-C analysis, which informs on the genome topology of these cells and integrated the results with transcriptome and GWAS data to further define loci linked to BMD. Using blood cells isolated from 4 healthy participants aged 31-61\u00a0yr, we cultured OC in vitro and generated a Micro-C chromatin conformation capture dataset. We characterized chromatin loops (CLs) in OC from among more than 69 million chromatin interactions identified in the genome. Of the CL identified in OC, &amp;gt;16\u2009000 were unique compared to precursor cells. When sentinel single nucleotide polymorphisms from osteoporosis and bone-related GWAS and those in linkage disequilibrium at r2\u2009&amp;gt;\u20090.6 were mapped to CL for OC, 12\u2009588 of these variants were observed within chromatin contact regions. Notable in differential gene ontology enrichment analyses of the topology data for OC and precursors were pathways regulating pluripotency of stem cells, Wnt signaling, nucleotide-binding oligomerization domain (NOD)-like receptor signaling and chemokine signaling. These data, in combination with other 3D genome architecture and epigenetic data (eg, histone modifications and chromatin accessibility), will be useful in modeling to predict genome-wide, which enhancers regulate which genes in OC. This data will therefore also be informative for resolving GWAS hits. In conclusion, we have generated a high-resolution genome topology dataset for human OC and have used this to identify CLs relevant to studies of the genetics of osteoporosis. This data will serve as a powerful resource to inform future functional studies of OC biology.<\/jats:p>","DOI":"10.1093\/jbmrpl\/ziaf120","type":"journal-article","created":{"date-parts":[[2025,7,15]],"date-time":"2025-07-15T13:12:11Z","timestamp":1752585131000},"source":"Crossref","is-referenced-by-count":2,"title":["Genome topology analysis and transcriptomics of human osteoclasts reveals enhancer\u2013promoter interactions at loci for bone traits and diseases"],"prefix":"10.1093","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0357-1373","authenticated-orcid":false,"given":"Scott G","family":"Wilson","sequence":"first","affiliation":[{"name":"Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital , Nedlands, WA, 6009 ,","place":["Australia"]},{"name":"School of Biomedical Sciences, University of Western Australia , Nedlands, WA, 6009 ,","place":["Australia"]},{"name":"Department of Twin Research and Genetic Epidemiology, King\u2019s College London , London, SE1 7EH ,","place":["United Kingdom"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Purdey J","family":"Campbell","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital , Nedlands, WA, 6009 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dhanya","family":"Sooraj","sequence":"additional","affiliation":[{"name":"Australian Genome Research Facility, Victorian Comprehensive Cancer Centre , Melbourne, Victoria, 3000 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kassandra","family":"Leatherbarrow","sequence":"additional","affiliation":[{"name":"School of Biomedical Sciences, University of Western Australia , Nedlands, WA, 6009 ,","place":["Australia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin H","family":"Mullin","sequence":"additional","affiliation":[{"name":"Department of Endocrinology 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