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

ISSN
1546-1718
1061-4036
Date Issued
2010
Author(s)
Mangold, Elisabeth
Ludwig, Kerstin U.
Birnbaum, Stefanie
Baluardo, Carlotta
Ferrian, Melissa
Herms, Stefan
Reutter, Heiko
de Assis, Nilma Almeida
Al Chawa, Taofik
Mattheisen, Manuel
Steffens, Michael
Barth, Sandra
Kluck, Nadine
Paul, Anna
Becker, Jessica
Lauster, Carola
Schmidt, Guel
Braumann, Bert
Scheer, Martin
Reich, Rudolf H.
Hemprich, Alexander
Poetzsch, Simone
Blaumeiser, Bettina
Moebus, Susanne
Schreiber, Stefan
Meitinger, Thomas
Wichmann, Hans-Erich
Steegers-Theunissen, Regine P.
Cichon, Sven
Propping, Peter
Wienker, Thomas F.
Knapp, Michael
Rubini, Michele
Mossey, Peter A.
Hoffmann, Per
Noethen, Markus M.
DOI
10.1038/ng.506
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).
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