{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T12:10:05Z","timestamp":1784635805013,"version":"3.55.0"},"reference-count":51,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2017,3,2]],"date-time":"2017-03-02T00:00:00Z","timestamp":1488412800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Bone &amp; Mineral Res"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>Failure to achieve optimal bone mineral accretion during childhood and adolescence results in subsequent suboptimal peak bone mass, contributing to osteoporosis risk later in life. To identify novel genetic factors that influence pediatric bone mass at discrete skeletal sites, we performed a sex\u2010stratified genomewide association study of areal bone mineral density (BMD) measured by dual\u2010energy X\u2010ray absorptiometry at the 1\/3 distal radius, spine, total hip, and femoral neck in a cohort of 933 healthy European American children. We took forward signals with <jats:italic>p<\/jats:italic>\u2009&lt;\u20095\u2009\u00d7\u200910<jats:sup>\u22125<\/jats:sup> and minor allele frequency (MAF) &gt;5% into an independent cohort of 486 European American children in search of replication. In doing so, we identified five loci that achieved genome wide significance in the combined cohorts (nearest genes: <jats:italic>CPED1<\/jats:italic>, <jats:italic>IZUMO3<\/jats:italic>, <jats:italic>RBFOX1<\/jats:italic>, <jats:italic>SPBT<\/jats:italic>, and <jats:italic>TBPL2<\/jats:italic>), of which the last four were novel and two were sex\u2010specific (<jats:italic>SPTB<\/jats:italic> in females and <jats:italic>IZUMO3<\/jats:italic> in males), with all of them yielding associations that were particularly strong at a specific skeletal site. Annotation of potential regulatory function, expression quantitative trait loci (eQTL) effects and pathway analyses identified several potential target genes at these associated loci. This study highlights the importance of sex\u2010stratified analyses at discrete skeletal sites during the critical period of bone accrual, and identifies novel loci for further functional follow\u2010up to pinpoint key genes and better understand the regulation of bone development in children. \u00a9 2017 American Society for Bone and Mineral Research.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jbmr.3097","type":"journal-article","created":{"date-parts":[[2017,2,9]],"date-time":"2017-02-09T13:06:56Z","timestamp":1486645616000},"page":"1274-1281","source":"Crossref","is-referenced-by-count":39,"title":["A Genomewide Association Study Identifies Two Sex\u2010Specific Loci, at <i>SPTB<\/i> and <i>IZUMO3<\/i>, Influencing Pediatric Bone Mineral Density at Multiple Skeletal Sites"],"prefix":"10.1093","volume":"32","author":[{"given":"Alessandra","family":"Chesi","sequence":"first","affiliation":[{"name":"Division of Human Genetics The Children's Hospital of Philadelphia Philadelphia PA 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