{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:50:47Z","timestamp":1762005047335,"version":"3.37.3"},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,11,21]],"date-time":"2018-11-21T00:00:00Z","timestamp":1542758400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81101440","81471887"],"award-info":[{"award-number":["81101440","81471887"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["European J Oral Sciences"],"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:p>Single\u2010nucleotide polymorphisms (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s) in protein\u2010coding regions of genes which were previously reported to be associated with nonsyndromic cleft lip, with or without palate involvement (<jats:styled-content style=\"fixed-case\">NSCL<\/jats:styled-content>\/P), were investigated. Twelve candidate loci [platelet\u2010derived growth factor C (<jats:styled-content style=\"fixed-case\"><jats:italic>PDGFC<\/jats:italic>)<\/jats:styled-content>, platelet\u2010derived growth factor subunit A (<jats:styled-content style=\"fixed-case\"><jats:italic>PDGFA<\/jats:italic>)<\/jats:styled-content>, platelet\u2010derived growth factor receptor alpha (<jats:styled-content style=\"fixed-case\"><jats:italic>PDGFRA<\/jats:italic>)<\/jats:styled-content>, glycine receptor alpha 2 (<jats:italic><jats:styled-content style=\"fixed-case\">GLRA<\/jats:styled-content>2<\/jats:italic>), glycine receptor beta (<jats:styled-content style=\"fixed-case\"><jats:italic>GLRB<\/jats:italic>)<\/jats:styled-content>, ATP binding cassette subfamily A member 4 (<jats:italic><jats:styled-content style=\"fixed-case\">ABCA<\/jats:styled-content>4<\/jats:italic>), MAF bZIP transcription factor B (<jats:styled-content style=\"fixed-case\"><jats:italic>MAFB<\/jats:italic>)<\/jats:styled-content>, interferon regulatory factor 6 (<jats:italic><jats:styled-content style=\"fixed-case\">IRF<\/jats:styled-content>6<\/jats:italic>), <jats:styled-content style=\"fixed-case\">CCDC<\/jats:styled-content>26 long non\u2010coding RNA (<jats:italic><jats:styled-content style=\"fixed-case\">CCDC<\/jats:styled-content>26<\/jats:italic>), paired box 7 (<jats:italic><jats:styled-content style=\"fixed-case\">PAX<\/jats:styled-content>7<\/jats:italic>), ventral anterior homeobox 1 (<jats:italic><jats:styled-content style=\"fixed-case\">VAX<\/jats:styled-content>1<\/jats:italic>), and netrin 1 (<jats:italic><jats:styled-content style=\"fixed-case\">NTN<\/jats:styled-content>1<\/jats:italic>)] covering 1.5\u00a0Mbp were sequenced in 136 <jats:styled-content style=\"fixed-case\">NSCL<\/jats:styled-content>\/P patients and 54 healthy controls. Twenty\u2010five genomic variants identified were further validated in another 400 <jats:styled-content style=\"fixed-case\">NSCL<\/jats:styled-content>\/P and 200 controls. Two <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s in <jats:italic><jats:styled-content style=\"fixed-case\">IRF<\/jats:styled-content>6<\/jats:italic> showed a protective effect against the development of <jats:styled-content style=\"fixed-case\">NSCL<\/jats:styled-content>\/P (rs12405750, <jats:styled-content style=\"fixed-case\">OR<\/jats:styled-content>\u00a0=\u00a00.54, 95% <jats:styled-content style=\"fixed-case\">CI<\/jats:styled-content>: 0.41\u20130.69; and rs2235371, <jats:styled-content style=\"fixed-case\">OR<\/jats:styled-content>\u00a0=\u00a00.55, 95% <jats:styled-content style=\"fixed-case\">CI<\/jats:styled-content>: 0.43\u20130.71). The missense variant, rs2235371, alters the conserved amino acid valine to isoleucine at codon 274 (V274I). We observed that <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s at <jats:italic><jats:styled-content style=\"fixed-case\">IRF<\/jats:styled-content>6<\/jats:italic> (rs2235371 and rs12405750) and <jats:italic><jats:styled-content style=\"fixed-case\">GLRB<\/jats:styled-content><\/jats:italic> (rs73856838 and rs72685584) show consistent interaction effects. The association between the missense <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content> rs2235371 in gene <jats:italic><jats:styled-content style=\"fixed-case\">IRF<\/jats:styled-content>6<\/jats:italic> and <jats:styled-content style=\"fixed-case\">NSCL<\/jats:styled-content>\/P suggests that this <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content> may play an important role as a risk factor for <jats:styled-content style=\"fixed-case\">NSCL<\/jats:styled-content>\/P in the Han Chinese populations. The marginal signal near 4q31 detected in previous genome\u2010wide association studies might be caused by an interaction between the <jats:italic><jats:styled-content style=\"fixed-case\">IRF<\/jats:styled-content>6<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">GLRB<\/jats:styled-content><\/jats:italic> genes. This interaction needs to be further validated by experimentation in follow\u2010up studies.<\/jats:p>","DOI":"10.1111\/eos.12587","type":"journal-article","created":{"date-parts":[[2018,11,21]],"date-time":"2018-11-21T20:26:01Z","timestamp":1542831961000},"page":"27-32","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Interaction between interferon regulatory factor 6 and glycine receptor beta shows a protective effect on developing nonsyndromic cleft lip with or without cleft palate in the Han Chinese population"],"prefix":"10.1111","volume":"127","author":[{"given":"Di","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Cleft Lip and Palate Plastic Surgery Hospital Chinese Academy of Medical Sciences and Peking Union Medical College Beijing"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3292-1413","authenticated-orcid":false,"given":"Mei","family":"Wang","sequence":"additional","affiliation":[{"name":"School of Life Science Peking University Beijing"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xingang","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery Beijing Children Hospital Capital Medical University Beijing"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong\u2010Biao","family":"Zhang","sequence":"additional","affiliation":[{"name":"Beijing Advanced Innovation Center for Big Data\u2010Based Precision Medicine Beihang University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tao","family":"Song","sequence":"additional","affiliation":[{"name":"Department of Cleft Lip and Palate Plastic Surgery Hospital Chinese Academy of Medical Sciences and Peking Union Medical College Beijing"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ningbei","family":"Yin","sequence":"additional","affiliation":[{"name":"Department of Cleft Lip and Palate Plastic Surgery Hospital Chinese Academy of Medical Sciences and Peking Union Medical College Beijing"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhenmin","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Cleft Lip and Palate Plastic Surgery Hospital Chinese Academy of Medical Sciences and Peking Union Medical College 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