{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,19]],"date-time":"2025-12-19T15:18:57Z","timestamp":1766157537157},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,4,9]],"date-time":"2012-04-09T00:00:00Z","timestamp":1333929600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Otosclerosis is a disease of abnormal bone remodeling in the human otic capsule that can lead to progressive hearing loss. Little of the underlying disease etiology has been elucidated thus far, although several studies have suggested that <jats:italic>COL1A1<\/jats:italic> may play a role based on its importance in bone metabolism and other diseases like osteoporosis and osteogenesis imperfecta. Genetic association studies between <jats:italic>COL1A1<\/jats:italic> and otosclerosis, however, have been contradictory. To resolve this issue, we studied a large Belgian\u2010Dutch and a Swiss population for a genetic association between <jats:italic>COL1A1<\/jats:italic> and otosclerosis and additionally performed a meta\u2010analysis to investigate the overall genetic effect of <jats:italic>COL1A1<\/jats:italic> on all otosclerosis populations studied to date. We found a significant association both in the Belgian\u2010Dutch population and in the meta\u2010analysis. In aggregate, our analysis supports evidence for an association between <jats:italic>COL1A1<\/jats:italic> and otosclerosis although effect sizes of the variants reported in the initial studies are likely to be an overestimate of true effect sizes. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35276","type":"journal-article","created":{"date-parts":[[2012,4,9]],"date-time":"2012-04-09T20:10:32Z","timestamp":1334002232000},"page":"1066-1070","source":"Crossref","is-referenced-by-count":22,"title":["<i>COL1A1<\/i> association and otosclerosis: A meta\u2010analysis"],"prefix":"10.1002","volume":"158A","author":[{"given":"Isabelle","family":"Schrauwen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayda","family":"Khalfallah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Megan","family":"Ealy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erik","family":"Fransen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charlotte","family":"Claes","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alex","family":"Huber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura Rodriguez","family":"Murillo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saber","family":"Masmoudi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard J.H.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guy","family":"Van Camp","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2012,4,9]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bth457"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00794.x"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/17.8.738"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1669"},{"key":"e_1_2_6_6_1","first-page":"426","article-title":"The genetics of otosclerosis: A review","volume":"10","author":"Gordon MA","year":"1989","journal-title":"Am J Otol"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/MAO.0b013e318164d12c"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng749"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.2011.00665.x"},{"key":"e_1_2_6_10_1","first-page":"604","article-title":"Association of COL1A1 and otosclerosis: Evidence for a shared genetic etiology with mild osteogenesis imperfecta","volume":"19","author":"McKenna MJ","year":"1998","journal-title":"Am J Otol"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/00129492-200407000-00008"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/519795"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30074"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-009-0754-2"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.01.023"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.071112"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/MAO.0b013e3181ab3058"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm150"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35276","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35276","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T00:25:15Z","timestamp":1698711915000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35276"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,4,9]]},"references-count":17,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2012,5]]}},"alternative-id":["10.1002\/ajmg.a.35276"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35276","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,4,9]]}}}