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

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. ReichAlexander 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

Research output: Contribution to journalArticlepeer-review

342 Scopus citations

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 × 10-8, relative risk in homozygotes = 1.84, 95% CI 1.342.53) and 10q25.3 (rs7078160, combined P = 1.92 × 10-8, relative risk in homozygotes = 2.17, 95% CI 1.323.56).

Original languageEnglish
Pages (from-to)24-26
Number of pages3
JournalNature Genetics
Volume42
Issue number1
DOIs
StatePublished - Jan 2010

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