Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci |
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| Authors: | Kerstin U Ludwig Elisabeth Mangold Stefan Herms Stefanie Nowak Heiko Reutter Anna Paul Jessica Becker Ruth Herberz Taofik Alchawa Entessar Nasser Anne C Böhmer Manuel Mattheisen Margrieta A Alblas Sandra Barth Nadine Kluck Carola Lauster Bert Braumann Rudolf H Reich Alexander Hemprich Simone Pötzsch Bettina Blaumeiser Nikolaos Daratsianos Thomas Kreusch Jeffrey C Murray Mary L Marazita Ingo Ruczinski Alan F Scott Terri H Beaty Franz-Josef Kramer Thomas F Wienker Regine P Steegers-Theunissen Michele Rubini Peter A Mossey Per Hoffmann Christoph Lange Sven Cichon Peter Propping Michael Knapp |
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| Institution: | 1] Institute of Human Genetics, University of Bonn, Bonn, Germany. [2] Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany. [3]. |
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| Abstract: | We have conducted the first meta-analyses for nonsyndromic cleft lip with or without cleft palate (NSCL/P) using data from the two largest genome-wide association studies published to date. We confirmed associations with all previously identified loci and identified six additional susceptibility regions (1p36, 2p21, 3p11.1, 8q21.3, 13q31.1 and 15q22). Analysis of phenotypic variability identified the first specific genetic risk factor for NSCLP (nonsyndromic cleft lip plus palate) (rs8001641; P(NSCLP) = 6.51 × 10(-11); homozygote relative risk = 2.41, 95% confidence interval (CI) 1.84-3.16). |
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