{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T04:13:25Z","timestamp":1770351205256,"version":"3.49.0"},"reference-count":25,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,4,21]],"date-time":"2004-04-21T00:00:00Z","timestamp":1082505600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Ministerio de Sanidad y Consumo (Spain)","award":["FIS 98\/160"],"award-info":[{"award-number":["FIS 98\/160"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Otosclerosis (OTSC) is one of the most common causes of hearing loss in white adults. The <jats:italic>COL1A1<\/jats:italic> and <jats:italic>COL1A2<\/jats:italic> genes coding for type\u2010I collagen have been proposed as candidate genes in the development of OTSC. The <jats:italic>COL1A1<\/jats:italic> gene was recently reported to be associated with the condition on the basis of a population\u2010based case\u2010control study. We report here an independent study of association between <jats:italic>COL1A1<\/jats:italic> and <jats:italic>COL1A2<\/jats:italic> gene polymorphisms and OTSC, in a case\u2010control sample from a population of Caucasian individuals living in Northwest Spain. Specifically, we studied two COL1A1 polymorphisms previously reported to be associated with OTSC, and six COL1A2 polymorphisms. We performed diverse association analyses based on alleles, genotypes, and two\u2010locus haplotypes. We found no evidence supporting the putative link of <jats:italic>COL1A1<\/jats:italic> and <jats:italic>COL1A2<\/jats:italic> genes with OTSC. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30074","type":"journal-article","created":{"date-parts":[[2004,4,21]],"date-time":"2004-04-21T22:00:57Z","timestamp":1082584857000},"page":"19-22","source":"Crossref","is-referenced-by-count":36,"title":["Proposed association between the <i>COL1A1<\/i> and <i>COL1A2<\/i> genes and otosclerosis is not supported by a case\u2010control study in Spain"],"prefix":"10.1002","volume":"128A","author":[{"given":"Laura","family":"Rodr\u00edguez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Santiago","family":"Rodr\u00edguez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan","family":"Hermida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos","family":"Frade","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esther","family":"Sande","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guillermo","family":"Visedo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos","family":"Mart\u00edn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos","family":"Zapata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,4,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/19.15.4315"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0168-9525(90)90235-X"},{"key":"e_1_2_6_4_1","unstructured":"ChenW McKennaMJ Van CampG SmithRJH.2002.Otosclerosis and COL1A1 (Abstract). The American Society of Human Genetics 52nd Annual Meeting Baltimore."},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/1.2.135"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/18.18.5577"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(01)02342-3"},{"key":"e_1_2_6_8_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_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0168-9525(93)90238-D"},{"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":"10.1177\/000348940211100214"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2273.2003.00675.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380020410"},{"key":"e_1_2_6_14_1","first-page":"905","article-title":"Allele and haplotype frequency distribution of the EcoRI, RsaI, and MspI COL1A2 RFLPs among various human populations","volume":"67","author":"Pepe G","year":"1995","journal-title":"Hum Biol"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.bi.64.070195.002155"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/107.4.703"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1385\/MB:21:2:117"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/1522-2683(200108)22:13<2656::AID-ELPS2656>3.0.CO;2-6"},{"key":"e_1_2_6_19_1","unstructured":"SchneiderS RoessliD ExcoffierL.2000.Arlequin ver. 2000. 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