title: [Relationship between genetic polymorphisms of IRF6 rs642961 and nonsysdromic cleft lip with or without cleft palate].
abstract: OBJECTIVE
  To explore the relationship between polymorphism of interferon regulatory factor 6 (IRF6) gene rs642961 locus and nonsyndromic cleft lip with or without cleft palate (NSCL ± P).
  
  
  METHODS
  There were 88 NSCL ± P nuclear families and 116 healthy people as control recruited from Chinese northern area. The polymorphism of IRF6 rs642961 locus was detected by tetra-primer amplification refractory mutation system-polymerase chain reaction (tetra-primer ARMS-PCR). Case-control analysis, transmission-disequilibrium test (TDT), haplotype-based haplotype relative risk analysis (HHRR) and family-based association test (FBAT) were carried out.
  
  
  RESULTS
  There was significant difference in rs642961 of IRF6 locus between the NSCL P group and control group, whether in children or parents (P < 0.05). The odds ratio (OR) of AG and AA versus GG is above one, and its 95% confidence interval did not include 1 in offspring, father and mother group, which meant genetic variant of rs642961 of IRF6 could increase the risk of occurrence of NSCL ± P. The allele transmission disequilibrium for rs642961 of IRF6 variant in NSCL ± P families was found by TDT analysis (P < 0.05). HHRR calculation also showed that there was association between the genetic variant and the occurrence of NSCL ± P (P < 0.05). While FBAT test showed that there was relationship between the genetic variant and the occurrence of NSCL ± P in addictive model.
  
  
  CONCLUSIONS
  Polymorphism IRF6 gene locus is associated with NSCL ± P in northern Chinese population.
authors.forename: Jinfeng
authors.initials: J
authors.lastname: Tian
authors.forename: Yuan
authors.initials: Y
authors.lastname: Wei
authors.forename: Liang
authors.initials: L
authors.lastname: Wang
authors.forename: Jinzhen
authors.initials: J
authors.lastname: Guo
authors.forename: Qian
authors.initials: Q
authors.lastname: Zhou
authors.forename: Wenli
authors.initials: W
authors.lastname: Zhu
mesh_terms: D000483:Alleles; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D002971:Cleft Lip / Q000097:blood / Q000235:genetics*; D002972:Cleft Palate / Q000097:blood / Q000235:genetics*; D017931:DNA Primers; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006239:Haplotypes; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: D017931:DNA Primers; C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors