{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T23:19:07Z","timestamp":1792019947619,"version":"4.4.0"},"reference-count":52,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2018,2,23]],"date-time":"2018-02-23T00:00:00Z","timestamp":1519344000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"},{"start":{"date-parts":[[2018,3,24]],"date-time":"2018-03-24T00:00:00Z","timestamp":1521849600000},"content-version":"vor","delay-in-days":29,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council","doi-asserted-by":"publisher","award":["048216 1127156"],"award-info":[{"award-number":["048216 1127156"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001063","name":"Raine Medical Research Foundation","doi-asserted-by":"publisher","award":["Pawsey0162 [SGW]"],"award-info":[{"award-number":["Pawsey0162 [SGW]"]}],"id":[{"id":"10.13039\/501100001063","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001063","name":"Raine Medical Research Foundation","doi-asserted-by":"publisher","award":["Director2025 [SGW]"],"award-info":[{"award-number":["Director2025 [SGW]"]}],"id":[{"id":"10.13039\/501100001063","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["asbmr.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2018,6,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:sec>\n                  <jats:title>\u2003<\/jats:title>\n                  <jats:p>Osteoporosis is a complex disease with a strong genetic component. Genomewide association studies (GWAS) have been very successful at identifying common genetic variants associated with bone parameters. A recently published study documented the results of the largest GWAS for bone mineral density (BMD) performed to date (n\u2009=\u2009142,487), identifying 307 conditionally independent single-nucleotide polymorphisms (SNPs) as associated with estimated BMD (eBMD) at the genomewide significance level. The vast majority of these variants are non-coding SNPs. Expression quantitative trait locus (eQTL) studies using disease-specific cell types have increasingly been integrated with the results from GWAS to identify genes through which the observed GWAS associations are likely mediated. We generated a unique human osteoclast-specific eQTL data set using cells differentiated in vitro from 158 participants. We then used this resource to characterize the 307 recently identified BMD GWAS SNPs for association with nearby genes (\u00b1500\u2009kb). After correction for multiple testing, 24 variants were found to be significantly associated with the expression of 32 genes in the osteoclast-like cells. Bioinformatics analysis suggested that these variants and those in strong linkage disequilibrium with them are enriched in regulatory regions. Several of the eQTL associations identified are relevant to genes that present strongly as having a role in bone, particularly IQGAP1, CYP19A1, CTNNB1, and COL6A3. Supporting evidence for many of the associations was obtained from publicly available eQTL data sets. We have also generated strong evidence for the presence of a regulatory region on chromosome 15q21.2 relevant to both the GLDN and CYP19A1 genes. In conclusion, we have generated a unique osteoclast-specific eQTL resource and have used this to identify 32 eQTL associations for recently identified BMD GWAS loci, which should inform functional studies of osteoclast biology. \u00a9 2018 American Society for Bone and Mineral Research.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1002\/jbmr.3412","type":"journal-article","created":{"date-parts":[[2018,2,23]],"date-time":"2018-02-23T20:06:10Z","timestamp":1519416370000},"page":"1044-1051","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":48,"title":["Expression Quantitative Trait Locus Study of Bone Mineral Density GWAS Variants in Human Osteoclasts"],"prefix":"10.1093","volume":"33","author":[{"given":"Benjamin H","family":"Mullin","sequence":"first","affiliation":[{"name":"School of Biomedical SciencesUniversity of Western AustraliaCrawleyAustralia"},{"name":"Department of Endocrinology and DiabetesSir Charles Gairdner HospitalNedlandsAustralia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kun","family":"Zhu","sequence":"additional","affiliation":[{"name":"School of Biomedical SciencesUniversity of Western AustraliaCrawleyAustralia"},{"name":"Department of Endocrinology and DiabetesSir Charles Gairdner HospitalNedlandsAustralia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiake","family":"Xu","sequence":"additional","affiliation":[{"name":"School of Biomedical SciencesUniversity of Western AustraliaCrawleyAustralia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suzanne J","family":"Brown","sequence":"additional","affiliation":[{"name":"Department of Endocrinology and DiabetesSir Charles Gairdner HospitalNedlandsAustralia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shelby","family":"Mullin","sequence":"additional","affiliation":[{"name":"School of Biomedical SciencesUniversity of Western AustraliaCrawleyAustralia"},{"name":"Department of Endocrinology and DiabetesSir Charles Gairdner HospitalNedlandsAustralia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Tickner","sequence":"additional","affiliation":[{"name":"School of Biomedical SciencesUniversity of Western AustraliaCrawleyAustralia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathan J","family":"Pavlos","sequence":"additional","affiliation":[{"name":"School of Biomedical SciencesUniversity of Western AustraliaCrawleyAustralia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Dudbridge","sequence":"additional","affiliation":[{"name":"Department of Health SciencesUniversity of LeicesterLeicesterUK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John P","family":"Walsh","sequence":"additional","affiliation":[{"name":"Medical SchoolUniversity of Western AustraliaCrawleyAustralia"},{"name":"Department of Endocrinology and DiabetesSir Charles Gairdner HospitalNedlandsAustralia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott G","family":"Wilson","sequence":"additional","affiliation":[{"name":"Department of Twin Research and Genetic EpidemiologyKing's College LondonLondonUK"},{"name":"School of Biomedical SciencesUniversity of Western AustraliaCrawleyAustralia"},{"name":"Department of Endocrinology and DiabetesSir Charles Gairdner HospitalNedlandsAustralia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2018,2,23]]},"reference":[{"issue":"10","key":"2024021014274874300_jbmr3412-bib-0001","doi-asserted-by":"crossref","first-page":"1539","DOI":"10.1002\/jbmr.5650111022","article-title":"Evidence for an interaction between calcium intake and physical activity on changes in bone mineral density","volume":"11","author":"Specker","year":"1996","journal-title":"J Bone Miner Res"},{"issue":"1","key":"2024021014274874300_jbmr3412-bib-0002","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1359\/jbmr.1998.13.1.133","article-title":"Associations of physical activity and calcium intake with bone mass and size in healthy women at different ages","volume":"13","author":"Uusi-Rasi","year":"1998","journal-title":"J Bone Miner Res"},{"issue":"1","key":"2024021014274874300_jbmr3412-bib-0003","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/jbmr.5650080102","article-title":"Heritable and life-style determinants of bone mineral density","volume":"8","author":"Krall","year":"1993","journal-title":"J Bone Miner Res"},{"issue":"3","key":"2024021014274874300_jbmr3412-bib-0004","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1172\/JCI113125","article-title":"Genetic determinants of bone mass in adults","volume":"80","author":"Pocock","year":"1987","journal-title":"A twin study. 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