title: IRF6 AP-2a binding site promoter polymorphism is associated with oral clefts in Latvia.
abstract: OBJECTIVE
  To evaluate the association between AXIN2, CDH1 and IRF6 with oral clefts in a cohort from Latvia.
  
  
  METHODS
  283 unrelated individuals, 93 born with isolated oral clefts and 190 individuals born without any structural abnormalities were evaluated. Cleft type and dental anomalies outside the cleft area were determined by clinical examination. Four SNPs were selected for this study: rs2240308 and rs11867417 in AXIN2; rs9929218 in CDH1; and rs642961 in IRF6. Genotypes were determined by polymerase chain reaction using the Taqman assay method from a genomic DNA sample extracted from whole blood. Allele and genotype frequencies were compared between individuals born with or without oral clefts using the PLINK program.
  
  
  RESULTS
  Tooth agenesis was the most frequent dental anomaly found among individuals born with oral clefts (N=10; frequency 10.8%). The allele A in the IRF6 marker rs642961 was associated with all combined types of oral clefts (OR=1.74; CI 95% 1.07-2.82) and with cases with cleft lip with or without cleft palate (OR=1.88, CI 95% 1.15-3.01; p=0.007).
  
  
  CONCLUSIONS
  The IRF6 AP-2a binding site promoter polymorphism is associated with isolated oral clefts in Latvia.
authors.affiliation: Department of Pediatric Dentistry, Institute of Stomatology, Dzirciema 20, Riga LV1007, Latvia. kristine.krasone@inbox.lv.
authors.forename: Kristīne
authors.initials: K
authors.lastname: Krasone
authors.forename: Baiba
authors.initials: B
authors.lastname: Lāce
authors.forename: Ilze
authors.initials: I
authors.lastname: Akota
authors.forename: Rūta
authors.initials: R
authors.lastname: Care
authors.forename: Kathleen
authors.initials: K
authors.lastname: Deeley
authors.forename: Erika C
authors.initials: EC
authors.lastname: Küchler
authors.forename: Alexandre R
authors.initials: AR
authors.lastname: Vieira
mesh_terms: D000225:Adenine; D000293:Adolescent; D000848:Anodontia / Q000235:genetics; D015703:Antigens, CD; D060466:Axin Protein; D001665:Binding Sites / Q000235:genetics; D015820:Cadherins; D002648:Child; D002675:Child, Preschool; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics*; D007844:Latvia; D008297:Male; D011110:Polymorphism, Genetic / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011401:Promoter Regions, Genetic / Q000235:genetics*; D014071:Tooth Abnormalities / Q000235:genetics; D050656:Transcription Factor AP-2 / Q000235:genetics*
chemical_list: C491761:AXIN2 protein, human; D015703:Antigens, CD; D060466:Axin Protein; C513384:CDH1 protein, human; D015820:Cadherins; C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors; D050656:Transcription Factor AP-2; D000225:Adenine