{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T13:03:38Z","timestamp":1761743018799},"reference-count":78,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2008,4,1]],"date-time":"2008-04-01T00:00:00Z","timestamp":1207008000000},"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":[[2008,4,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>We studied the role of polymorphisms in 13 candidate genes on the risk of otosclerosis in two large independent case-control sets. We found significant association in both populations with BMP2 and BMP4, implicating these two genes in the pathogenesis of this disease.<\/jats:p>\n               <jats:p>Introduction: Otosclerosis is a progressive disorder of the human temporal bone that leads to conductive hearing loss and in some cases sensorineural or mixed hearing loss. In a few families, it segregates as a monogenic disease with reduced penetrance, but in most patients, otosclerosis is more appropriately considered a complex disorder influenced by genetic and environmental factors.<\/jats:p>\n               <jats:p>Materials and Methods: To identify major genetic factors in otosclerosis, we used a candidate gene approach to study two large independent case-control sets of Belgian-Dutch and French origin. Tag single nucleotide polymorphisms (SNPs) in 13 candidate susceptibility genes were studied in a stepwise strategy.<\/jats:p>\n               <jats:p>Results: Two SNPs were identified that showed the same significant effect in both populations. The first SNP, rs3178250, is located in the 3\u2032 untranslated region of BMP2. Individuals homozygote for the C allele are protected against otosclerosis (combined populations: p = 2.2 \u00d7 10\u22124; OR = 2.027; 95% CI = 1.380\u20132.979). The second SNP, rs17563, is an amino acid changing (p.Ala152Val) SNP located in BMP4. The G allele, coding for the amino acid alanine, confers susceptibility in both populations (combined populations: p = 0.002; OR = 1.209; 95% CI: 1.070\u20131.370).<\/jats:p>\n               <jats:p>Conclusions: These results indicate that polymorphisms in the BMP2 and BMP4 genes, both members of the TGF-\u03b2 superfamily, contribute to the susceptibility to otosclerosis and further strengthen the results from the recently reported association of TGFB1 with this disease.<\/jats:p>","DOI":"10.1359\/jbmr.071112","type":"journal-article","created":{"date-parts":[[2007,11,19]],"date-time":"2007-11-19T12:32:11Z","timestamp":1195475531000},"page":"507-516","source":"Crossref","is-referenced-by-count":58,"title":["Association of Bone Morphogenetic Proteins With Otosclerosis"],"prefix":"10.1093","volume":"23","author":[{"given":"Isabelle","family":"Schrauwen","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, University of Antwerp, Antwerp, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa","family":"Thys","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Antwerp, Antwerp, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathleen","family":"Vanderstraeten","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Antwerp, Antwerp, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erik","family":"Fransen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Antwerp, Antwerp, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nele","family":"Dieltjens","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of Antwerp, Antwerp, Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeroen 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