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Nature Research, Nature Genetics, 1(42), p. 24-26, 2009

DOI: 10.1038/ng.506

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

Journal article published in 2009 by Na de Assis, Guel Schmidt, Elisabeth Mangold, Rh Reich, Stefanie Birnbaum, Carlotta Baluardo, Melissa Ferrian, Stefan Herms, Heiko Reutter, Simone Poetzsch, Michael Steffens, He Wichmann, Manuel Mattheisen ORCID, Rp Steegers-Theunissen, Sandra Barth and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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).