{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T03:58:13Z","timestamp":1772769493110,"version":"3.50.1"},"reference-count":46,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2013,6,9]],"date-time":"2013-06-09T00:00:00Z","timestamp":1370736000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2014,5]]},"abstract":"<jats:sec><jats:title>Objectives<\/jats:title><jats:p>To identify susceptibility genes underlying degenerative bony changes of the temporomandibular joint (<jats:styled-content style=\"fixed-case\">TMJ<\/jats:styled-content>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>Bony changes of the <jats:styled-content style=\"fixed-case\">TMJ<\/jats:styled-content> condylar head were diagnosed by examination of panoramic radiographs and\/or magnetic resonance images and\/or computed tomography images. We conducted a genome\u2010wide association study (<jats:styled-content style=\"fixed-case\">GWAS<\/jats:styled-content>) of 146 cases with <jats:styled-content style=\"fixed-case\">TMJ<\/jats:styled-content> degeneration and 374 controls from <jats:styled-content style=\"fixed-case\">E<\/jats:styled-content>ast <jats:styled-content style=\"fixed-case\">A<\/jats:styled-content>sian populations using an <jats:styled-content style=\"fixed-case\">I<\/jats:styled-content>llumina <jats:styled-content style=\"fixed-case\">H<\/jats:styled-content>uman<jats:styled-content style=\"fixed-case\">O<\/jats:styled-content>mni<jats:styled-content style=\"fixed-case\">E<\/jats:styled-content>xpress <jats:styled-content style=\"fixed-case\">B<\/jats:styled-content>ead<jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>hip. After rigorous quality\u2010control filtering, approximately 550\u00a0000 single nucleotide polymorphisms (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s) were used for tests of associations with disease status.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Forty\u2010one <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s at 22 independent loci showed association signals at <jats:italic>P\u00a0<\/jats:italic>&lt;<jats:italic>\u00a0<\/jats:italic>1\u00a0\u00d7\u00a010<jats:sup>\u22124<\/jats:sup>. The <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content> rs878962, which maps on an intron of <jats:italic><jats:styled-content style=\"fixed-case\">TSPAN<\/jats:styled-content>9<\/jats:italic> on chromosome 12, showed the strongest association (combined <jats:styled-content style=\"fixed-case\">OR<\/jats:styled-content>\u00a0=\u00a01.89, 95% confidence interval\u00a0=\u00a01.43\u20132.50, <jats:italic>P\u00a0<\/jats:italic>=<jats:italic>\u00a0<\/jats:italic>8.1\u00a0\u00d7\u00a010<jats:sup>\u22126<\/jats:sup>). According to <jats:italic>in silico<\/jats:italic> predictions of the 41 <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s, two intronic <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s of <jats:italic><jats:styled-content style=\"fixed-case\">APOL<\/jats:styled-content>3<\/jats:italic> (rs80575) and <jats:italic><jats:styled-content style=\"fixed-case\">MRC<\/jats:styled-content>2<\/jats:italic> (rs2460300) may fall within regulatory elements and affect <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content>\u2013protein interactions. We could not replicate <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s located on genes that have been reported to be associated with temporomandibular disorder or temporomandibular osteoarthritis in previous studies at <jats:italic>P\u00a0<\/jats:italic>&lt;<jats:italic>\u00a0<\/jats:italic>1\u00a0\u00d7\u00a010<jats:sup>\u22124<\/jats:sup>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our <jats:styled-content style=\"fixed-case\">GWAS<\/jats:styled-content> identified 22 independent loci showing suggestive association signals with degenerative bony changes of the <jats:styled-content style=\"fixed-case\">TMJ<\/jats:styled-content>. These loci provide good candidates for future follow\u2010up studies.<\/jats:p><\/jats:sec>","DOI":"10.1111\/odi.12141","type":"journal-article","created":{"date-parts":[[2013,5,23]],"date-time":"2013-05-23T17:49:25Z","timestamp":1369331365000},"page":"409-415","source":"Crossref","is-referenced-by-count":16,"title":["Genome\u2010wide association study of degenerative bony changes of the temporomandibular joint"],"prefix":"10.1111","volume":"20","author":[{"given":"T","family":"Yamaguchi","sequence":"first","affiliation":[{"name":"Department of Orthodontics School of Dentistry Showa University Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Nakaoka","sequence":"additional","affiliation":[{"name":"Division of Human Genetics National Institute of Genetics Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Yamamoto","sequence":"additional","affiliation":[{"name":"Division of Genome Analysis Research Center 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