title: Polymorphic variants in VAX1 gene (rs7078160) and BMP4 gene (rs762642) and the risk of non-syndromic orofacial clefts in the Polish population.
abstract: OBJECTIVE
  The aim of this study was to investigate the contribution of reported candidate genes: VAX1 (rs7078160) and BMP4 (rs762642) to the risk of cleft lip with or without cleft palate in the Polish population.
  
  
  METHODS
  Salivary DNA was obtained from 209 individuals with nonsyndromic cleft lip with or without cleft palate and 418 healthy matched control group. We performed an analysis of polymorphisms of VAX1 (rs7078160) and BMP4 (rs762642) genes. These genes are involved in facial development during pregnancy and may contribute to orofacial clefting risk. Single nucleotide polymorphisms (SNPs) were investigated by real-time PCR- based TaqMan genotyping (Light Cycler 480 II; Roche Diagnostics). To assess the clefting risk for each genotype the odds ratio (OR) was calculated.
  
  
  RESULTS
  Conducted logistic regression did not confirm modificatory influence of rs7078160 in VAX1 gene on cleft lip with or without cleft palate risk. For AA genotype OR=1.81 (p=0.211), and for AG genotype OR=0.8 (p=0.313). Also a modificatory influence of rs762642 in BMP4 gene on orofacial clefting risk was not significant. OR=0.82 for GG genotype (p=0.471), while for GT genotype OR=1.17 (p=0.487).
  
  
  CONCLUSIONS
  No correlation between polymorphisms: rs7078160, rs762642 and nonsyndromic cleft lip with or without cleft palate risk in Polish population was observed.
authors.affiliation: Zakład Ortodoncji, Pomorski Uniwersytet Medyczny w Szczecinie, al. Powstańców Wlkp. 72, 70-111 Szczecin, alicja.zawislak@europe.com.
authors.forename: Alicja
authors.initials: A
authors.lastname: Zawiślak
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Woźniak
authors.forename: Anna
authors.initials: A
authors.lastname: Jakubowska
authors.forename: Jan
authors.initials: J
authors.lastname: Lubiński
authors.forename: Beata
authors.initials: B
authors.lastname: Kawala
authors.forename: Anna
authors.initials: A
authors.lastname: Znamirowska-Bajowska