| Literature DB >> 19270707 |
Stefanie Birnbaum1, Kerstin U Ludwig, Heiko Reutter, Stefan Herms, Michael Steffens, Michele Rubini, Carlotta Baluardo, Melissa Ferrian, Nilma Almeida de Assis, Margrieta A Alblas, Sandra Barth, Jan Freudenberg, Carola Lauster, Gül Schmidt, Martin Scheer, Bert Braumann, Stefaan J Bergé, Rudolf H Reich, Franziska Schiefke, Alexander Hemprich, Simone Pötzsch, Regine P Steegers-Theunissen, Bernd Pötzsch, Susanne Moebus, Bernhard Horsthemke, Franz-Josef Kramer, Thomas F Wienker, Peter A Mossey, Peter Propping, Sven Cichon, Per Hoffmann, Michael Knapp, Markus M Nöthen, Elisabeth Mangold.
Abstract
We conducted a genome-wide association study involving 224 cases and 383 controls of Central European origin to identify susceptibility loci for nonsyndromic cleft lip with or without cleft palate (NSCL/P). A 640-kb region at chromosome 8q24.21 was found to contain multiple markers with highly significant evidence for association with the cleft phenotype, including three markers that reached genome-wide significance. The 640-kb cleft-associated region was saturated with 146 SNP markers and then analyzed in our entire NSCL/P sample of 462 unrelated cases and 954 controls. In the entire sample, the most significant SNP (rs987525) had a P value of 3.34 x 10(-24). The odds ratio was 2.57 (95% CI = 2.02-3.26) for the heterozygous genotype and 6.05 (95% CI = 3.88-9.43) for the homozygous genotype. The calculated population attributable risk for this marker is 0.41, suggesting that this study has identified a major susceptibility locus for NSCL/P.Entities:
Mesh：
Year: 2009 PMID： 19270707 DOI： 10.1038/ng.333
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330