Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.

Authors:
Elisabeth Mangold, Kerstin U Ludwig, Stefanie Birnbaum, Carlotta Baluardo, Melissa Ferrian, Stefan Herms, Heiko Reutter, Nilma Almeida de Assis, Taofik Al Chawa, Manuel Mattheisen, Michael Steffens, Sandra Barth, Nadine Kluck, Anna Paul, Jessica Becker, Carola Lauster, Gül Schmidt, Bert Braumann, Martin Scheer, Rudolf H Reich, Alexander Hemprich, Simone Pötzsch, Bettina Blaumeiser, Susanne Moebus, Michael Krawczak, Stefan Schreiber, Thomas Meitinger, Hans-Erich Wichmann, Regine P Steegers-Theunissen, Franz-Josef Kramer, Sven Cichon, Peter Propping, Thomas F Wienker, Michael Knapp, Michele Rubini, Peter A Mossey, Per Hoffmann, Markus M Nöthen
Year of publication:
2010
Volume:
42
Issue:
1
Issn:
1061-4036
Journal title abbreviated:
NAT GENET
Journal title long:
Nature genetics
Impact factor:
31.616
Abstract:
We conducted a genome-wide association study for nonsyndromic cleft lip with or without cleft palate (NSCL/P) in 401 affected individuals and 1,323 controls, with replication in an independent sample of 793 NSCL/P triads. We report two new loci associated with NSCL/P at 17q22 (rs227731, combined P = 1.07 x 10(-8), relative risk in homozygotes = 1.84, 95% CI 1.34-2.53) and 10q25.3 (rs7078160, combined P = 1.92 x 10(-8), relative risk in homozygotes = 2.17, 95% CI 1.32-3.56).