{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T06:36:38Z","timestamp":1792305398449,"version":"4.4.0"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,10,29]],"date-time":"2013-10-29T00:00:00Z","timestamp":1383004800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2013,10,29]],"date-time":"2013-10-29T00:00:00Z","timestamp":1383004800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["aao-hnsfjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Otolaryngol.--head neck surg."],"published-print":{"date-parts":[[2014,1]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To present an easy to read systematic review concerning the genetic etiology of otosclerosis to help health care providers in counseling otosclerosis patients more accurately.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Data Sources<\/jats:title>\n                    <jats:p>PubMed, Embase, CINAHL, and the Cochrane Library.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Review Methods<\/jats:title>\n                    <jats:p>Studies on the genetic etiology of otosclerosis were selected. Association studies and family\u2010based studies were included for further review. After quality assessment (risk of bias), data were extracted from the included studies. When available, odds ratios were presented. In case of corresponding genetic anomalies between the studies, it was the aim to combine results.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The number of available studies with low risk of bias is limited to 2 association studies and 1 family\u2010based study. These high\u2010quality studies show that otosclerosis in Japanese patients is not linked to the\n                      <jats:italic>NOG<\/jats:italic>\n                      gene and that a polymorphism in the Sp1 binding site located on the\n                      <jats:italic>COL1A1<\/jats:italic>\n                      gene is associated with otosclerosis as well as\n                      <jats:italic>OTSC1<\/jats:italic>\n                      . Association and family\u2010based studies with moderate risk of bias show a statistically significant association with the\n                      <jats:italic>ACE<\/jats:italic>\n                      gene,\n                      <jats:italic>AGT<\/jats:italic>\n                      gene,\n                      <jats:italic>OTSC2, RELN<\/jats:italic>\n                      gene,\n                      <jats:italic>TGFB1<\/jats:italic>\n                      gene, 11q13.1,\n                      <jats:italic>OTSC2, OTSC5, OTSC8<\/jats:italic>\n                      , and\n                      <jats:italic>OTSC10<\/jats:italic>\n                      . These results may be spurious associations due to their bias and low statistical power.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The present systematic review shows that there is scattered evidence of limited quality and a lack of replication studies. It is not possible to point out 1 or more responsible genes, which play a key role within the genetic pathophysiologic mechanism of otosclerosis.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/0194599813509951","type":"journal-article","created":{"date-parts":[[2013,10,29]],"date-time":"2013-10-29T23:10:50Z","timestamp":1383088250000},"page":"34-39","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["An Introduction of Genetics in Otosclerosis: A Systematic Review"],"prefix":"10.1002","volume":"150","author":[{"given":"Arnold J. N.","family":"Bittermann","sequence":"first","affiliation":[{"name":"Department of Otorhinolaryngology\u2013Head and Neck Surgery University Medical Center Utrecht Utrecht the Netherlands"},{"name":"Brain Center Rudolf Magnus University Medical Center Utrecht Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inge","family":"Wegner","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology\u2013Head and Neck Surgery University Medical Center Utrecht Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo Jan","family":"Noordman","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology\u2013Head and Neck Surgery University Medical Center Utrecht Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Vincent","sequence":"additional","affiliation":[{"name":"Jean Causse Ear Clinic, Traverse de B\u00e9ziers Colombiers France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geert J. M. G.","family":"van der Heijden","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology\u2013Head and Neck Surgery University Medical Center Utrecht Utrecht the Netherlands"},{"name":"Julius Center for Health Sciences and Primary Care University Medical Center Utrecht Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilko","family":"Grolman","sequence":"additional","affiliation":[{"name":"Department of Otorhinolaryngology\u2013Head and Neck Surgery University Medical Center Utrecht Utrecht the Netherlands"},{"name":"Brain Center Rudolf Magnus University Medical Center Utrecht Utrecht the Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,10,29]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2273.2003.00675.x"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archoto.2011.100"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mao.0000235311.80066.df"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0470-3"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/lary.20934"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1195-241"},{"key":"e_1_2_10_8_1","doi-asserted-by":"crossref","first-page":"1653","DOI":"10.1002\/ajmg.a.31806","article-title":"Clinical and genetic analysis of two Tunisian otosclerosis families","volume":"143","author":"Bel Hadj Ali I","year":"2007","journal-title":"Am J Med Genet A"},{"key":"e_1_2_10_9_1","first-page":"747","article-title":"Otosclerosis: association of COLIA1 Sp1 binding site polymorphism in Alexandria, Egypt","volume":"6","author":"El Gezeery A","year":"2012","journal-title":"Asian Biomed"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01831.x"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01576.x"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.2011.00665.x"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-009-0754-2"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/gene.2010.3"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.2010.00595.x"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.018671"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30074"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S8756-3282(02)00679-8"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1086\/318185"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.2.285"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/MAO.0b013e318164d12c"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.20410"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/447655a"}],"container-title":["Otolaryngology\u2013Head and Neck Surgery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/aao-hnsfjournals.onlinelibrary.wiley.com\/doi\/pdf\/10.1177\/0194599813509951","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/aao-hnsfjournals.onlinelibrary.wiley.com\/doi\/full-xml\/10.1177\/0194599813509951","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/aao-hnsfjournals.onlinelibrary.wiley.com\/doi\/pdf\/10.1177\/0194599813509951","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,5]],"date-time":"2026-02-05T06:17:13Z","timestamp":1770272233000},"score":1,"resource":{"primary":{"URL":"https:\/\/aao-hnsfjournals.onlinelibrary.wiley.com\/doi\/10.1177\/0194599813509951"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,10,29]]},"references-count":22,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,1]]}},"alternative-id":["10.1177\/0194599813509951"],"URL":"https:\/\/doi.org\/10.1177\/0194599813509951","archive":["Portico"],"relation":{},"ISSN":["0194-5998","1097-6817"],"issn-type":[{"value":"0194-5998","type":"print"},{"value":"1097-6817","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,10,29]]},"assertion":[{"value":"2013-07-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2013-10-02","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2013-10-29","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}