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The goal of this study was to investigate the potential relationship between <jats:italic><jats:styled-content style=\"fixed-case\">AXIN<\/jats:styled-content>2<\/jats:italic> polymorphisms and the risks of non\u2010syndromic orofacial clefts (<jats:styled-content style=\"fixed-case\">NSOC<\/jats:styled-content>) in a <jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>hinese <jats:styled-content style=\"fixed-case\">H<\/jats:styled-content>an population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Four polymorphisms of <jats:italic><jats:styled-content style=\"fixed-case\">AXIN<\/jats:styled-content>2<\/jats:italic> (rs2240307, rs11867417, rs2240308, and rs7591) were selected to perform a case\u2013control study with 599 <jats:styled-content style=\"fixed-case\">NSOC<\/jats:styled-content> cases and 602 healthy individuals from a <jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>hinese <jats:styled-content style=\"fixed-case\">H<\/jats:styled-content>an population. The single nucleotide polymorphisms (<jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s) were genotyped on basis of double ligation and multiplex fluorescence <jats:styled-content style=\"fixed-case\">PCR<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Weak associations were found between these four <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s and the risk of <jats:styled-content style=\"fixed-case\">NSOC<\/jats:styled-content>. Further stratified analysis showed that the overall genotype frequencies of rs2240307 were different between the cleft palate only (<jats:styled-content style=\"fixed-case\">CPO<\/jats:styled-content>) group and the control group (<jats:italic>P\u00a0<\/jats:italic>=<jats:italic>\u00a0<\/jats:italic>0.048), and <jats:styled-content style=\"fixed-case\">GG<\/jats:styled-content> genotype markedly contributed to the susceptibility to <jats:styled-content style=\"fixed-case\">CPO<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">OR<\/jats:styled-content>\u00a0=\u00a03.22, 95% <jats:styled-content style=\"fixed-case\">CI<\/jats:styled-content>\u00a0=\u00a01.13\u20139.18). The similar effect was also observed on <jats:styled-content style=\"fixed-case\">GA<\/jats:styled-content>\/<jats:styled-content style=\"fixed-case\">AA<\/jats:styled-content> genotype compared with <jats:styled-content style=\"fixed-case\">GG<\/jats:styled-content> homozygote (<jats:styled-content style=\"fixed-case\">OR<\/jats:styled-content>\u00a0=\u00a00.30, 95% <jats:styled-content style=\"fixed-case\">CI<\/jats:styled-content>\u00a0=\u00a00.11\u20130.84). The results of <jats:styled-content style=\"fixed-case\">LD<\/jats:styled-content> analysis between each pair of <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s revealed that two <jats:styled-content style=\"fixed-case\">SNP<\/jats:styled-content>s (rs11867417 and rs7591) were in a <jats:styled-content style=\"fixed-case\">LD<\/jats:styled-content> block (<jats:italic>r<\/jats:italic><jats:sup>2<\/jats:sup>\u00a0&gt;\u00a00.8). But no statistically significant was found between cases and controls from haplotype analysis in these two loci.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The borderline results gave us a hint that rs2240307 contributed to the susceptibility to <jats:styled-content style=\"fixed-case\">CPO<\/jats:styled-content> in a <jats:styled-content style=\"fixed-case\">C<\/jats:styled-content>hinese <jats:styled-content style=\"fixed-case\">H<\/jats:styled-content>an population, which was conductive to improving our awareness of the causes of <jats:styled-content style=\"fixed-case\">NSOC<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jop.12162","type":"journal-article","created":{"date-parts":[[2014,2,1]],"date-time":"2014-02-01T06:48:58Z","timestamp":1391237338000},"page":"554-560","source":"Crossref","is-referenced-by-count":14,"title":["The axis inhibition protein 2 polymorphisms and non\u2010syndromic orofacial clefts susceptibility in a 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