Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

Kerstin U. Ludwig, Elisabeth Mangold (Lead / Corresponding author), Stefan Herms, Stefanie Nowak, Heiko Reutter, Anna Paul, Jessica Becker, Ruth Herberz, Taofik AlChawa, Entessar Nasser, Anne C. Boehmer, Manuel Mattheisen, Margrieta A. Alblas, Sandra Barth, Nadine Kluck, Carola Lauster, Bert Braumann, Rudolf H. Reich, Alexander Hemprich, Simone PoetzschBettina 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. Noethen

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    198 Citations (Scopus)

    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 x 10(-11); homozygote relative risk = 2.41, 95% confidence interval (CI) 1.84-3.16).

    Original languageEnglish
    Pages (from-to)968-971
    Number of pages4
    JournalNature Genetics
    Volume44
    Issue number9
    DOIs
    Publication statusPublished - Sep 2012

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  • Cite this

    Ludwig, K. U., Mangold, E., Herms, S., Nowak, S., Reutter, H., Paul, A., Becker, J., Herberz, R., AlChawa, T., Nasser, E., Boehmer, A. C., Mattheisen, M., Alblas, M. A., Barth, S., Kluck, N., Lauster, C., Braumann, B., Reich, R. H., Hemprich, A., ... Noethen, M. M. (2012). Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. Nature Genetics, 44(9), 968-971. https://doi.org/10.1038/ng.2360