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However, whether other <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s in this area could independently contribute to non\u2010syndromic orofacial clefts in Chinese populations remained obscure.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>We selected 24 <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s based on a haplotype\u2010tagging <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content> strategy and evaluated their associations with risk of non\u2010syndromic orofacial clefts in a large\u2010scale two\u2010stage case\u2013control study with 1278 cases and 1295 controls. Genotyping was performed with Sequenom and TaqMan assay. Associations between the <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s and risk of non\u2010syndromic orofacial clefts were estimated from unconditional logistic regression analyses.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Overall, six <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s were found to be the susceptible factors of non\u2010syndromic orofacial clefts. The most significant and independent <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content> was rs6129653 (additive model of <jats:italic>P<\/jats:italic> value\u00a0=\u00a01.4E\u201006). In subgroup analysis, its significant associations with cleft lip only (<jats:styled-content style=\"fixed-case\">CLO<\/jats:styled-content>) and cleft lip and palate (<jats:styled-content style=\"fixed-case\">CLP<\/jats:styled-content>) were observed. Furthermore, <jats:italic>in silico<\/jats:italic> bioinformatics analysis indicated that rs6129653 was located in the transcriptionally active region and associated with <jats:italic><jats:styled-content style=\"fixed-case\">MAFB<\/jats:styled-content><\/jats:italic> expression in human brain tissues.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Rs6129653 was an independent locus of non\u2010syndromic orofacial clefts among Chinese populations possibly due to its potential of distal transcriptional regulation of <jats:italic><jats:styled-content style=\"fixed-case\">MAFB<\/jats:styled-content><\/jats:italic> expression.<\/jats:p><\/jats:sec>","DOI":"10.1111\/odi.12570","type":"journal-article","created":{"date-parts":[[2016,8,18]],"date-time":"2016-08-18T15:18:41Z","timestamp":1471533521000},"page":"50-54","source":"Crossref","is-referenced-by-count":7,"title":["Genetic variants of 20q12 contributed to non\u2010syndromic orofacial clefts susceptibility"],"prefix":"10.1111","volume":"23","author":[{"given":"X","family":"Yin","sequence":"first","affiliation":[{"name":"Department of Dermatology The First Affiliated Hospital of Nanjing Medical University Nanjing China"},{"name":"Jiangsu Key Laboratory of Oral Diseases Nanjing Medical University Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Ma","sequence":"additional","affiliation":[{"name":"Jiangsu Key Laboratory of Oral Diseases Nanjing Medical University Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Li","sequence":"additional","affiliation":[{"name":"Jiangsu Key Laboratory of Oral Diseases Nanjing Medical University Nanjing China"},{"name":"Department of Orthodontics Affiliated Hospital of Stomatology Nanjing Medical University Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Xu","sequence":"additional","affiliation":[{"name":"Jiangsu Key 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