title: Association between genetic variants of reported candidate genes or regions and risk of cleft lip with or without cleft palate in the polish population.
abstract: BACKGROUND
  Cleft lip with or without cleft palate (CL/P) is one of the most common craniofacial malformations, with a complex and multifactorial etiology. Because of the genetic heterogeneity of facial clefts, the aim of this study was to investigate the contribution of previously reported candidate genes and chromosomal loci to the risk of CL/P in the Polish population.
  
  
  METHODS
  We performed an analysis of 18 polymorphisms of FOXE1, IRF6, MSX1, PAX9, TBX10, FGF10, FGFR1, TGFalpha, TGFbeta3, SUMO1, and the chromosomal region 8q24 in a group of 175 patients with CL/P and a properly matched control group.
  
  
  RESULTS
  Highly significant results were observed for the IRF6 rs642961 variant and the 8q24 region's rs987525 (odds ratio [OR](AG+AAvsGG), 1.635; 95% confidence interval [CI], 1.153-2.319; p = 0.005; and OR(AC+AAvsCC), 1.962; 95% CI, 1.382-2.785; p = 1.4 x 10(-4), respectively). For rs987525, the results were also significant after correction for multiple comparisons. Borderline association with an increased risk of CL/P was also identified for the SUMO1 locus (rs2350350; OR(CGvsGG), 1.580; 95% CI, 1.056-2.363; p = 0.025).
  
  
  CONCLUSIONS
  Our findings confirmed that genetic variants of IRF6 and the polymorphism located in the 8q24 gene desert are strongly involved in the etiology of facial clefts in the Polish population sample.
authors.affiliation: Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poland. amostowska@wp.pl
authors.forename: Adrianna
authors.initials: A
authors.lastname: Mostowska
authors.forename: Kamil K
authors.initials: KK
authors.lastname: Hozyasz
authors.forename: Piotr
authors.initials: P
authors.lastname: Wojcicki
authors.forename: Barbara
authors.initials: B
authors.lastname: Biedziak
authors.forename: Patrycja
authors.initials: P
authors.lastname: Paradowska
authors.forename: Pawel P
authors.initials: PP
authors.lastname: Jagodzinski
mesh_terms: D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D055106:Genome-Wide Association Study; D006801:Humans; D050835:Interferon Regulatory Factors / Q000235:genetics*; D008297:Male; D016017:Odds Ratio; D011044:Poland; D020641:Polymorphism, Single Nucleotide; D025842:SUMO-1 Protein / Q000235:genetics
chemical_list: C109803:IRF6 protein, human; D050835:Interferon Regulatory Factors; D025842:SUMO-1 Protein