{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,22]],"date-time":"2023-11-22T12:46:20Z","timestamp":1700657180275},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,3,13]],"date-time":"2013-03-13T00:00:00Z","timestamp":1363132800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["European J Oral Sciences"],"published-print":{"date-parts":[[2013,4]]},"abstract":"<jats:p>As part of an international consortium, case\u2013parent trios were collected for a genome\u2010wide association study of isolated, non\u2010syndromic oral clefts, including cleft lip (<jats:styled-content style=\"fixed-case\">CL<\/jats:styled-content>), cleft palate (<jats:styled-content style=\"fixed-case\">CP<\/jats:styled-content>), and cleft lip and palate (<jats:styled-content style=\"fixed-case\">CLP<\/jats:styled-content>). Non\u2010syndromic oral clefts have a complex and heterogeneous etiology. Risk is influenced by genes and environmental factors, and differs markedly by gender. Family\u2010based association tests (<jats:styled-content style=\"fixed-case\">FBAT<\/jats:styled-content>) were used on 14,486 single nucleotide polymorphisms (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s) spanning the X chromosome, stratified by type of cleft and racial group. Significant results, even after multiple\u2010comparisons correction, were obtained for the Duchenne muscular dystrophy (<jats:italic><jats:styled-content style=\"fixed-case\">DMD<\/jats:styled-content><\/jats:italic>) gene, the largest single gene in the human genome, among <jats:styled-content style=\"fixed-case\">CL<\/jats:styled-content>\/P (i.e. both <jats:styled-content style=\"fixed-case\">CL<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">CLP<\/jats:styled-content> combined) trios. When stratified into groups of European and Asian ancestry, stronger signals were obtained for Asian subjects. Although conventional sliding\u2010window haplotype analysis showed no increase in significance, selected combinations of the 25 most significant <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s in the <jats:italic><jats:styled-content style=\"fixed-case\">DMD<\/jats:styled-content><\/jats:italic> gene identified four <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s together that attained genome\u2010wide significance among Asian <jats:styled-content style=\"fixed-case\">CL<\/jats:styled-content>\/P trios, raising the possibility of interaction between distant <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s within the <jats:italic><jats:styled-content style=\"fixed-case\">DMD<\/jats:styled-content><\/jats:italic> gene.<\/jats:p>","DOI":"10.1111\/eos.12025","type":"journal-article","created":{"date-parts":[[2013,3,14]],"date-time":"2013-03-14T08:23:23Z","timestamp":1363249403000},"page":"63-68","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["X\u2010linked markers in the <scp>D<\/scp>uchenne muscular dystrophy gene associated with oral clefts"],"prefix":"10.1111","volume":"121","author":[{"given":"Poorav J.","family":"Patel","sequence":"first","affiliation":[{"name":"Johns Hopkins University Baltimore MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Terri H.","family":"Beaty","sequence":"additional","affiliation":[{"name":"Johns Hopkins University Baltimore MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingo","family":"Ruczinski","sequence":"additional","affiliation":[{"name":"Johns Hopkins University Baltimore MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffrey C.","family":"Murray","sequence":"additional","affiliation":[{"name":"University of Iowa Iowa City IA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary L.","family":"Marazita","sequence":"additional","affiliation":[{"name":"University of Pittsburgh Pittsburgh PA USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ronald G.","family":"Munger","sequence":"additional","affiliation":[{"name":"Utah State University Logan UT USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacqueline B.","family":"Hetmanski","sequence":"additional","affiliation":[{"name":"Johns Hopkins University Baltimore MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tao","family":"Wu","sequence":"additional","affiliation":[{"name":"Johns Hopkins University Baltimore MD USA"},{"name":"Peking University Health Science Center Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tanda","family":"Murray","sequence":"additional","affiliation":[{"name":"Johns Hopkins University Baltimore MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret","family":"Rose","sequence":"additional","affiliation":[{"name":"Johns Hopkins University Baltimore MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard J.","family":"Redett","sequence":"additional","affiliation":[{"name":"Johns Hopkins University Baltimore MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheng C.","family":"Jin","sequence":"additional","affiliation":[{"name":"Johns Hopkins University Baltimore MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rolv T.","family":"Lie","sequence":"additional","affiliation":[{"name":"University of Bergen Bergen Norway"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yah\u2010Huei","family":"Wu\u2010Chou","sequence":"additional","affiliation":[{"name":"Chang Gung Memorial Hospital Linkou Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Wang","sequence":"additional","affiliation":[{"name":"Peking University Health Science Center Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoqian","family":"Ye","sequence":"additional","affiliation":[{"name":"Mount Sinai Medical School New York NY USA"},{"name":"Wuhan University Wuhan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent","family":"Yeow","sequence":"additional","affiliation":[{"name":"KK Women's &amp; 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