| Literature DB >> 22863734 |
Kerstin U Ludwig1, 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, Markus M Nöthen.
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).Entities:
Mesh:
Year: 2012 PMID: 22863734 PMCID: PMC3598617 DOI: 10.1038/ng.2360
Source DB: PubMed Journal: Nat Genet ISSN: 1061-4036 Impact factor: 38.330