{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T10:06:25Z","timestamp":1777370785576,"version":"3.51.4"},"reference-count":88,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2010,11,23]],"date-time":"2010-11-23T00:00:00Z","timestamp":1290470400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>RANK (receptor activator of nuclear factor-\u03baB), encoded by TNFRSF11A, is a key protein in osteoclastogenesis. TNFRSF11A mutations cause Paget's disease of bone (PDB)\u2013like diseases (ie, familial expansile osteolysis, expansile skeletal hyperphosphatasia, and early-onset PDB) and an osteoclast-poor form of osteopetrosis. However, no TNFRSF11A mutations have been found in classic PDB, neither in familial nor in isolated cases. To investigate the possible relationship between TNFRSF11A polymorphisms and sporadic PDB, we conducted an association study including 32 single-nucleotide polymorphisms (SNPs) in 196 Belgian sporadic PDB patients and 212 control individuals. Thirteen SNPs and 3 multimarker tests (MMTs) turned out to have a p value of between .036 and 3.17\u2009\u00d7\u200910\u22124, with the major effect coming from females. Moreover, 6 SNPs and 1 MMT withstood the Bonferroni correction (p\u2009&amp;lt;\u2009.002). Replication studies were performed for 2 nonsynonymous SNPs (rs35211496 and rs1805034) in a Dutch and a British cohort. Interestingly, both SNPs resulted in p values ranging from .013 to 8.38\u2009\u00d7\u200910\u22125 in both populations. Meta-analysis over three populations resulted in p\u2009=\u2009.002 for rs35211496 and p\u2009=\u20091.27\u2009\u00d7\u200910\u22128 for rs1805034, again mainly coming from the female subgroups. In an attempt to identify the underlying causative SNP, we performed functional studies for the coding SNPs as well as resequencing efforts of a 31-kb region harboring a risk haplotype within the Belgian females. However, neither approach resulted in significant evidence for the causality of any of the tested genetic variants. Therefore, further studies are needed to identify the real cause of the increased risk to develop PDB shown to be present within TNFRSF11A. \u00a9 2010 American Society for Bone and Mineral Research.<\/jats:p>","DOI":"10.1002\/jbmr.162","type":"journal-article","created":{"date-parts":[[2010,6,21]],"date-time":"2010-06-21T04:29:50Z","timestamp":1277094590000},"page":"2592-2605","source":"Crossref","is-referenced-by-count":43,"title":["Genetic variation in the <i>TNFRSF11A<\/i> gene encoding RANK is associated with susceptibility to Paget's disease of bone"],"prefix":"10.1093","volume":"25","author":[{"given":"Pui Yan Jenny","family":"Chung","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Greet","family":"Beyens","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philip L","family":"Riches","sequence":"additional","affiliation":[{"name":"Rheumatic Diseases Unit, Molecular Medicine Centre, University of Edinburgh, Edinburgh, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liesbeth","family":"Van Wesenbeeck","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fenna","family":"de Freitas","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Jennes","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Daroszewska","sequence":"additional","affiliation":[{"name":"Rheumatic Diseases Unit, Molecular Medicine Centre, University of Edinburgh, Edinburgh, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erik","family":"Fransen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven","family":"Boonen","sequence":"additional","affiliation":[{"name":"Musculoskeletal Research Unit, Department of Experimental Medicine, Leuven University and UZ Leuven, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piet","family":"Geusens","sequence":"additional","affiliation":[{"name":"Biomedical Research Institute, University of Hasselt, Diepenbeek, Belgium, and Internal Medicine\/Rheumatology, University Hospital, Maastricht, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Filip","family":"Vanhoenacker","sequence":"additional","affiliation":[{"name":"Department of Radiology, University Hospital of Antwerp, Antwerp, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leon","family":"Verbruggen","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, UZ Brussel, Brussels, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Van Offel","sequence":"additional","affiliation":[{"name":"Department of Immunology and Rheumatology, University Hospital of Antwerp (UZA), Antwerp, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefan","family":"Goemaere","sequence":"additional","affiliation":[{"name":"Unit for Osteoporosis and Metabolic Bone Diseases, Ghent University Hospital, Ghent, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans-Georg","family":"Zmierczak","sequence":"additional","affiliation":[{"name":"Unit for Osteoporosis and Metabolic Bone Diseases, Ghent University Hospital, Ghent, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ren\u00e9","family":"Westhovens","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, UZ KULeuven, Leuven, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcel","family":"Karperien","sequence":"additional","affiliation":[{"name":"Department of Tissue Regeneration, University of Twente, Enschede, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Socrates","family":"Papapoulos","sequence":"additional","affiliation":[{"name":"Endocrinology and Metabolic Diseases, Leiden University Medical Center, Leiden, The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stuart H","family":"Ralston","sequence":"additional","affiliation":[{"name":"Rheumatic Diseases Unit, Molecular Medicine Centre, University of Edinburgh, Edinburgh, United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean-Pierre","family":"Devogelaer","sequence":"additional","affiliation":[{"name":"Department of Rheumatology, Saint-Luc University Hospital, Universit\u00e9 Catholique de Louvain, Brussels, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wim","family":"Van Hul","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University and University Hospital of Antwerp, Antwerp, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2010,11,23]]},"reference":[{"key":"2024020320081385200_bib1","doi-asserted-by":"crossref","first-page":"231","DOI":"10.1016\/0221-8747(81)90037-0","article-title":"The epidemiology of Paget's 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