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. 2010 Wiley-Liss, Inc.
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 IRF6rs642961 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. 2010 Wiley-Liss, Inc.
Authors: Tanda Murray; Margaret A Taub; Ingo Ruczinski; Alan F Scott; Jacqueline B Hetmanski; Holger Schwender; Poorav Patel; Tian Xiao Zhang; Ronald G Munger; Allen J Wilcox; Xiaoqian Ye; Hong Wang; Tao Wu; Yah Huei Wu-Chou; Bing Shi; Sun Ha Jee; Samuel Chong; Vincent Yeow; Jeffrey C Murray; Mary L Marazita; Terri H Beaty Journal: Genet Epidemiol Date: 2012-04-16 Impact factor: 2.135
Authors: Ariadne Letra; Lorena Maili; John B Mulliken; Edward Buchanan; Susan H Blanton; Jacqueline T Hecht Journal: Birth Defects Res A Clin Mol Teratol Date: 2014-08-27
Authors: Ariadne Letra; Walid Fakhouri; Renata F Fonseca; Renato Menezes; Inga Kempa; Joanne L Prasad; Toby G McHenry; Andrew C Lidral; Lina Moreno; Jeffrey C Murray; Sandra Daack-Hirsch; Mary L Marazita; Eduardo E Castilla; Baiba Lace; Ieda M Orioli; Jose M Granjeiro; Brian C Schutte; Alexandre R Vieira Journal: PLoS One Date: 2012-09-20 Impact factor: 3.240