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

Elisabeth Mangold (Lead / Corresponding author), 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, Guel Schmidt, Bert Braumann, Martin Scheer, Rudolf H. ReichAlexander Hemprich, Simone Poetzsch, 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. Noethen

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    273 Citations (Scopus)


    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).

    Original languageEnglish
    Pages (from-to)24-26
    Number of pages3
    JournalNature Genetics
    Issue number1
    Publication statusPublished - Jan 2010


    • GENE

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