{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T10:40:47Z","timestamp":1696588847830},"reference-count":29,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2013,4,19]],"date-time":"2013-04-19T00:00:00Z","timestamp":1366329600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"National Science Funds of China","award":["30660198"],"award-info":[{"award-number":["30660198"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Oral Pathology Medicine"],"published-print":{"date-parts":[[2013,10]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Non\u2010syndromic orofacial clefts (NSOC) are the most common craniofacial birth defects and are considered as complex and multifactorial diseases involving the interplay of genetic predisposition and environmental exposures. Recent studies demonstrated that <jats:styled-content style=\"fixed-case\">EYA<\/jats:styled-content>1, a member of eye absent gene family, might contribute to the development of orofacial clefts. This study aimed to evaluate the association between <jats:styled-content style=\"fixed-case\">EYA<\/jats:styled-content>1 gene polymorphism and <jats:styled-content style=\"fixed-case\">NSOC<\/jats:styled-content> in western Chinese population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Two single\u2010nucleotide polymorphisms, rs13260349 and rs2380716, were investigated among 199 case\u2013parent trios, and the linkage disequilibrium (LD) test, transmission disequilibrium test, family based association test, and haplotype analysis were performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Weak evidence of LD was found between these markers (D'\u00a0=\u00a00.573, <jats:italic>r<\/jats:italic><jats:sup>2<\/jats:sup>\u00a0=\u00a00.218); allel C and genotype C\/C at rs13260349 showed an overtransmission in <jats:styled-content style=\"fixed-case\">CL<\/jats:styled-content>\/P; haplotype T\u2010T (rs13260349\u2010rs2380716) displayed an association with <jats:styled-content style=\"fixed-case\">NSOC<\/jats:styled-content> and <jats:styled-content style=\"fixed-case\">CL<\/jats:styled-content>\/P.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The results showed evidence of weak association between the two <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s of <jats:styled-content style=\"fixed-case\">EYA<\/jats:styled-content>1 (rs13260349 and rs2380716) and <jats:styled-content style=\"fixed-case\">NSOC<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jop.12063","type":"journal-article","created":{"date-parts":[[2013,4,20]],"date-time":"2013-04-20T04:11:23Z","timestamp":1366431083000},"page":"711-715","source":"Crossref","is-referenced-by-count":1,"title":["Associations between <scp>EYA<\/scp>1 single\u2010nucleotide polymorphisms and non\u2010syndromic orofacial clefts in Western Han Chinese"],"prefix":"10.1111","volume":"42","author":[{"given":"Ni","family":"Zeng","sequence":"first","affiliation":[{"name":"State Key Laboratory of Oral Diseases West China Hospital of Stomatology Sichuan University Chengdu China"},{"name":"Department of Cleft Lip and Palate Surgery West China Hospital of Stomatology, Sichuan University Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Wu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral Diseases West China Hospital of Stomatology Sichuan University Chengdu China"},{"name":"Department of Cleft Lip and Palate Surgery West China Hospital of Stomatology, Sichuan University Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen\u2010Chao","family":"Zhu","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral Diseases West China Hospital of Stomatology Sichuan University Chengdu China"},{"name":"Department of Cleft Lip and Palate Surgery West China Hospital of Stomatology, Sichuan University Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Li","family":"Ma","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral Diseases West China Hospital of Stomatology Sichuan University Chengdu China"},{"name":"Department of Cleft Lip and Palate Surgery West China Hospital of Stomatology, Sichuan University Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhong\u2010Lin","family":"Jia","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral Diseases West China Hospital of Stomatology Sichuan University Chengdu China"},{"name":"Department of Cleft Lip and Palate Surgery West China Hospital of Stomatology, Sichuan University Chengdu China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bing","family":"Shi","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Oral Diseases West China Hospital of Stomatology Sichuan University Chengdu China"},{"name":"Department of Cleft Lip and Palate Surgery West China Hospital of Stomatology, Sichuan University Chengdu 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