{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T15:34:53Z","timestamp":1756308893538},"reference-count":37,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2010,4,1]],"date-time":"2010-04-01T00:00:00Z","timestamp":1270080000000},"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":[[2010,4,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Osteoporosis is a bone disease characterized by low bone mineral density (BMD), a highly heritable polygenic trait. Women are more prone than men to develop osteoporosis owing to a lower peak bone mass and accelerated bone loss at menopause. Lack of estrogen thus is a major risk factor for osteoporosis. In addition to having strong similarity to the estrogen receptor 1 (ESR1), the orphan nuclear estrogen-related receptor \u03b3 (ESRR\u03b3) is widely expressed and shows overlap with ESR1 expression in tissues where estrogen has important physiologic functions. For these reasons, we have undertaken a study of ESRR\u03b3 sequence variants in association with bone measurements [heel quantitative ultrasound (QUS) by measurements of broadband ultrasound attenuation (BUA), speed of sound (SOS), and stiffness index (SI) and dual-energy X-ray absorptiometry (DXA) at the femoral neck (FN) and lumbar spine (LS)]. A silent variant was found to be associated with multiple bone measurements (LS, BUA, SOS, and SI), the p values ranging from .006 to .04 in a sample of 5144 Quebec women. The region of this variant was analyzed using the HapMap database and the Gabriel method to define a block of 20\u2009kb. Using the Tagger method, eight TagSNPs were identified and genotyped in a sample of 1335 women. Four of these SNPs capture the five major block haplotypes. One SNP (rs2818964) and one haplotype were significantly associated with multiple bone measures. All SNPs involved in the associations were analyzed in two other sample sets with significant results in the same direction. These results suggest involvement of ESRR\u03b3 in the determination of bone density in women. \u00a9 2010 American Society for Bone and Mineral Research<\/jats:p>","DOI":"10.1359\/jbmr.091014","type":"journal-article","created":{"date-parts":[[2009,10,12]],"date-time":"2009-10-12T22:34:50Z","timestamp":1255386890000},"page":"901-911","source":"Crossref","is-referenced-by-count":13,"title":["Association with replication between estrogen-related receptor \u03b3 (<i>ESRR\u03b3<\/i>) Polymorphisms and bone phenotypes in women of European ancestry"],"prefix":"10.1093","volume":"25","author":[{"given":"Latifa","family":"Elfassihi","sequence":"first","affiliation":[{"name":"Direction de la surveillance de l'\u00e9tat de sant\u00e9 de la population, Direction g\u00e9n\u00e9rale de la sant\u00e9 publique, Minist\u00e8re de la sant\u00e9 et des services sociaux, Quebec, Canada"},{"name":"Facult\u00e9 de M\u00e9decine, Universit\u00e9 Laval, Quebec, Canada"},{"name":"Centre de Recherche de l'H\u00f4pital St-Fran\u00e7ois d'Assise du Centre Hospitalier Universitaire de Qu\u00e9bec, Quebec, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvie","family":"Giroux","sequence":"additional","affiliation":[{"name":"Centre de Recherche de l'H\u00f4pital St-Fran\u00e7ois d'Assise du Centre Hospitalier Universitaire de Qu\u00e9bec, Quebec, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandre","family":"Bureau","sequence":"additional","affiliation":[{"name":"Centre de recherche Universit\u00e9 Laval Robert-Giffard, Quebec, Canada"},{"name":"Facult\u00e9 de M\u00e9decine, Universit\u00e9 Laval, Quebec, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie","family":"Laflamme","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine, Universit\u00e9 Laval, Quebec, Canada"},{"name":"Centre de Recherche de l'H\u00f4pital St-Fran\u00e7ois d'Assise du Centre Hospitalier Universitaire de Qu\u00e9bec, Quebec, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David EC","family":"Cole","sequence":"additional","affiliation":[{"name":"Department of Clinical Pathology, Sunnybrook Health Sciences Centre and Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fran\u00e7ois","family":"Rousseau","sequence":"additional","affiliation":[{"name":"Centre for the Development, Evaluation and Rational Implementation of New Diagnostic Tools in Medicine (CEDERINDT)\/The CanG\u00e8neTest Research Consortium on Genetic Laboratory Services, Quebec, Canada"},{"name":"Facult\u00e9 de M\u00e9decine, Universit\u00e9 Laval, Quebec, Canada"},{"name":"Centre de Recherche de l'H\u00f4pital St-Fran\u00e7ois d'Assise du Centre Hospitalier Universitaire de Qu\u00e9bec, Quebec, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2010,4,9]]},"reference":[{"key":"2024020401090036100_bib1","doi-asserted-by":"crossref","first-page":"2105","DOI":"10.1001\/jama.292.17.2105","article-title":"Differential genetic effects of ESR1 gene polymorphisms on osteoporosis outcomes","volume":"292","author":"Ioannidis","year":"2004","journal-title":"JAMA."},{"key":"2024020401090036100_bib2","doi-asserted-by":"crossref","first-page":"1299","DOI":"10.1016\/j.bone.2007.01.004","article-title":"LRP5 coding polymorphisms influence the variation of peak bone mass in a normal population of French-Canadian women","volume":"40","author":"Giroux","year":"2007","journal-title":"Bone."},{"key":"2024020401090036100_bib3","doi-asserted-by":"crossref","first-page":"1769","DOI":"10.1007\/s00198-008-0617-z","article-title":"Replication of associations between LRP5 and ESRRA variants and bone density in premenopausal 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