{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T09:37:22Z","timestamp":1778665042270,"version":"3.51.4"},"reference-count":51,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,2,11]],"date-time":"2018-02-11T00:00:00Z","timestamp":1518307200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002977","name":"Dalhousie University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002977","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004281","name":"Narodowe Centrum Nauki","doi-asserted-by":"publisher","award":["2012\/07\/B\/NZ2\/00115"],"award-info":[{"award-number":["2012\/07\/B\/NZ2\/00115"]}],"id":[{"id":"10.13039\/501100004281","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:p>Non\u2010syndromic cleft lip with or without cleft palate (nsCL\/P) is a common craniofacial anomaly with a complex and heterogeneous aetiology. Knowledge regarding specific genetic factors underlying this birth defect is still not well understood. Therefore, we conducted an independent replication analysis for the top\u2010associated variants located within the <jats:italic>DLG1<\/jats:italic> locus at chromosome 3q29, which was identified as a novel cleft\u2010susceptibility locus in our genome\u2010wide association study (GWAS). Mega\u2010analysis of the pooled individual data from the GWAS and replication study confirmed that common <jats:italic>DLG1<\/jats:italic> variants are associated with the risk of nsCL\/P. Two single nucleotide polymorphisms (SNPs), rs338217 and rs7649443, were statistically significant even at the genome\u2010wide level (<jats:italic>P<\/jats:italic><jats:sub>trend<\/jats:sub>\u2009=\u20099.70E\u221210 and <jats:italic>P<\/jats:italic><jats:sub>trend<\/jats:sub>\u2009=\u20098.96E\u221209, respectively). Three other SNPs, rs9826379, rs6805920 and rs6583202, reached a suggestive genome\u2010wide significance threshold (<jats:italic>P<\/jats:italic><jats:sub>trend<\/jats:sub>\u2009&lt;\u20091.00E\u221205). The location of the strongest individual SNP in the intronic sequence of the gene encoding DLG1 antisense RNA suggests that the true causal variant implicated in the risk of nsCL\/P may affect the <jats:italic>DLG1<\/jats:italic> gene expression level rather than structure of the encoded protein. In conclusion, we identified a novel cleft\u2010susceptibility locus at chromosome 3q29 with a <jats:italic>DLG1<\/jats:italic> as a novel candidate gene for this common craniofacial anomaly.<\/jats:p>","DOI":"10.1111\/cge.13141","type":"journal-article","created":{"date-parts":[[2017,9,19]],"date-time":"2017-09-19T15:32:42Z","timestamp":1505835162000},"page":"784-793","source":"Crossref","is-referenced-by-count":39,"title":["Common variants in <i>DLG1<\/i> locus are associated with non\u2010syndromic cleft lip with or without cleft palate"],"prefix":"10.1111","volume":"93","author":[{"given":"A.","family":"Mostowska","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Poznan University of Medical Sciences  Poznan Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Gaczkowska","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology Poznan University of Medical Sciences  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