title: Association of single-nucleotide polymorphisms, rs2235371 and rs2013162, in the IRF6 gene with non-syndromic cleft palate in northeast China.
abstract: The aim of this study was to determine the association between two SNPs (rs2235371 and rs2013162) in the interferon regulatory factor 6 (IRF6) gene and non-syndromic cleft palate (NSCP) in northeast China. We genotyped these two SNPs in 104 NSCP cases, as well as in 178 parents and 300 controls. Case-control and case-parent analyses were performed using χ2 tests and family-based association tests (FBAT). Results indicated that there were significant differences in both genotypic and allelic distributions between patients and controls at rs2235371 and rs2013162 in the IRF6 gene. Case-parent analysis revealed over-transmission of the C allele in rs2235371 and the A allele in rs2013162. Lastly, FBAT showed over-transmission of the CA haplotype. This study demonstrated that the two SNPs, rs2235371 and rs2013162, are strongly associated with NSCP in the northeast Chinese population.
authors.affiliation: Key Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning, Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, Shenyang, China.
authors.forename: W
authors.initials: W
authors.lastname: Xu
authors.affiliation: Key Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning, Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, Shenyang, China sheyangde2001@163.com.
authors.forename: W T
authors.initials: WT
authors.lastname: Han
authors.affiliation: Key Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning, Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, Shenyang, China.
authors.forename: Y P
authors.initials: YP
authors.lastname: Lu
authors.affiliation: Key Laboratory of Reproductive Health, Liaoning Province Research Institute of Family Planning, Key Laboratory of Reproductive Health and Medical Genetics, National Health and Family Planning Commission, Shenyang, China.
authors.forename: W H
authors.initials: WH
authors.lastname: Feng
authors.affiliation: Dalian Central Hospital, Dalian, China.
authors.forename: M
authors.initials: M
authors.lastname: Dai
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People; D058070:Asymptomatic Diseases; D016022:Case-Control Studies; D002648:Child; D002972:Cleft Palate / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D005260:Female; D015870:Gene Expression; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics*; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide
chemical_list: C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors