{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:46:00Z","timestamp":1792788360690,"version":"4.5.0"},"reference-count":54,"publisher":"Oxford University Press (OUP)","issue":"10","license":[{"start":{"date-parts":[[2024,2,10]],"date-time":"2024-02-10T00:00:00Z","timestamp":1707523200000},"content-version":"vor","delay-in-days":1710,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T00:00:00Z","timestamp":1564704000000},"content-version":"vor","delay-in-days":57,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["WT092830M"],"award-info":[{"award-number":["WT092830M"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["WT102215\/2\/13\/2"],"award-info":[{"award-number":["WT102215\/2\/13\/2"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["WT088806"],"award-info":[{"award-number":["WT088806"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["WT098051"],"award-info":[{"award-number":["WT098051"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["asbmr.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,10,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>In bone, sclerostin is mainly osteocyte-derived and plays an important local role in adaptive responses to mechanical loading. Whether circulating levels of sclerostin also play a functional role is currently unclear, which we aimed to examine by two-sample Mendelian randomization (MR). A genetic instrument for circulating sclerostin, derived from a genomewide association study (GWAS) meta-analysis of serum sclerostin in 10,584 European-descent individuals, was examined in relation to femoral neck bone mineral density (BMD; n\u2009=\u200932,744) in GEFOS and estimated bone mineral density (eBMD) by heel ultrasound (n\u2009=\u2009426,824) and fracture risk (n\u2009=\u2009426,795) in UK Biobank. Our GWAS identified two novel serum sclerostin loci, B4GALNT3 (standard deviation [SD]) change in sclerostin per A allele (\u03b2\u2009=\u20090.20, p\u2009=\u20094.6\u2009\u00d7\u200910\u221249) and GALNT1 (\u03b2 \u2009=\u20090.11 per G allele, p\u2009=\u20094.4\u2009\u00d7\u200910\u221211). B4GALNT3 is an N-acetyl-galactosaminyltransferase, adding a terminal LacdiNAc disaccharide to target glycocoproteins, found to be predominantly expressed in kidney, whereas GALNT1 is an enzyme causing mucin-type O-linked glycosylation. Using these two single-nucleotide polymorphisms (SNPs) as genetic instruments, MR revealed an inverse causal relationship between serum sclerostin and femoral neck BMD (\u03b2\u2009=\u2009\u20130.12, 95% confidence interval [CI] \u20130.20 to \u20130.05) and eBMD (\u03b2\u2009=\u2009\u20130.12, 95% CI \u20130.14 to \u20130.10), and a positive relationship with fracture risk (\u03b2\u2009=\u20090.11, 95% CI 0.01 to 0.21). Colocalization analysis demonstrated common genetic signals within the B4GALNT3 locus for higher sclerostin, lower eBMD, and greater B4GALNT3 expression in arterial tissue (probability &amp;gt;99%). Our findings suggest that higher sclerostin levels are causally related to lower BMD and greater fracture risk. Hence, strategies for reducing circulating sclerostin, for example by targeting glycosylation enzymes as suggested by our GWAS results, may prove valuable in treating osteoporosis. \u00a9 2019 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/jbmr.3803","type":"journal-article","created":{"date-parts":[[2019,6,6]],"date-time":"2019-06-06T14:38:43Z","timestamp":1559831923000},"page":"1824-1836","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["Mendelian Randomization Analysis Reveals a Causal Influence of Circulating Sclerostin Levels on Bone Mineral Density and Fractures"],"prefix":"10.1093","volume":"34","author":[{"given":"Jie","family":"Zheng","sequence":"first","affiliation":[{"name":"MRC Integrative Epidemiology Unit (IEU), Bristol Medical School, University of Bristol Bristol UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Winfried","family":"Maerz","sequence":"additional","affiliation":[{"name":"Vth Department of Medicine (Nephrology, Hypertensiology, Rheumatology, Endocrinology, Diabetology), Medical Faculty Mannheim, University of Heidelberg Mannheim Germany"},{"name":"SYNLAB Academy, SYNLAB Holding Deutschland GmbH Mannheim Germany"},{"name":"Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Graz Graz Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"Gergei","sequence":"additional","affiliation":[{"name":"Vth Department of Medicine (Nephrology, Hypertensiology, Rheumatology, Endocrinology, Diabetology), Medical Faculty Mannheim, University of Heidelberg Mannheim Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcus","family":"Kleber","sequence":"additional","affiliation":[{"name":"Vth Department of Medicine (Nephrology, Hypertensiology, Rheumatology, Endocrinology, Diabetology), Medical Faculty Mannheim, University of Heidelberg Mannheim Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christiane","family":"Drechsler","sequence":"additional","affiliation":[{"name":"Department of Cardiology and Nephrology, Rhein-Maas-Klinikum W\u00fcrselen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christoph","family":"Wanner","sequence":"additional","affiliation":[{"name":"Department of Cardiology and Nephrology, Rhein-Maas-Klinikum W\u00fcrselen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Brandenburg","sequence":"additional","affiliation":[{"name":"Department of Cardiology and Nephrology, Rhein-Maas-Klinikum W\u00fcrselen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sjur","family":"Reppe","sequence":"additional","affiliation":[{"name":"Unger-Vetlesen Institute, Lovisenberg Diaconal Hospital Oslo Norway"},{"name":"Department of Medical Biochemistry, Oslo University Hospital Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaare M","family":"Gautvik","sequence":"additional","affiliation":[{"name":"Institute of Basic Medical Sciences, University of Oslo Oslo Norway"},{"name":"Unger-Vetlesen Institute, Lovisenberg Diaconal Hospital Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Medina-Gomez","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Erasmus MC University Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enisa","family":"Shevroja","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Erasmus MC University Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arthur","family":"Gilly","sequence":"additional","affiliation":[{"name":"Institute of Translational Genomics, Helmholtz Zentrum M\u00fcnchen, German Research 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Wellcome Genome Campus, Hinxton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0749-1431","authenticated-orcid":false,"given":"Mattias","family":"Lorentzon","sequence":"additional","affiliation":[{"name":"Geriatric Medicine Clinic, Sahlgrenska University Hospital, M\u00f6lndal Sweden"},{"name":"Geriatric Medicine, Institute of Medicine, University of Gothenburg Gothenburg Sweden"},{"name":"Centre for Bone and Arthritis Research, Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, University of Gothenburg Gothenburg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Petra","family":"Henning","sequence":"additional","affiliation":[{"name":"Centre for Bone and Arthritis Research, Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, University of Gothenburg Gothenburg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulf H","family":"Lerner","sequence":"additional","affiliation":[{"name":"Centre for Bone and Arthritis Research, Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, University of Gothenburg Gothenburg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin H","family":"Nilsson","sequence":"additional","affiliation":[{"name":"Centre for Bone and Arthritis Research, Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, University of Gothenburg Gothenburg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia","family":"Mov\u00e9rare-Skrtic","sequence":"additional","affiliation":[{"name":"Centre for Bone and Arthritis Research, Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, University of Gothenburg Gothenburg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denis","family":"Baird","sequence":"additional","affiliation":[{"name":"MRC Integrative 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D","family":"Capellini","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard Boston MA USA"},{"name":"Human Evolutionary Biology, Harvard University Boston MA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elin","family":"Grundberg","sequence":"additional","affiliation":[{"name":"Center for Pediatric Genomic Medicine, Children's Mercy Kansas City MO USA"},{"name":"Department of Human Genetics, McGill University Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Nethander","sequence":"additional","affiliation":[{"name":"Centre for Bone and Arthritis Research, Department of Internal Medicine and Clinical Nutrition, Institute of Medicine, University of Gothenburg Gothenburg Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claes","family":"Ohlsson","sequence":"additional","affiliation":[{"name":"Centre for Bone and Arthritis Research, Department of Internal Medicine and 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