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

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 PötzschBettina 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

Research output: Contribution to journalArticle

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; PNSCLP = 6.51 × 10-11; homozygote relative risk = 2.41, 95% confidence interval (CI) 1.84-3.16).

Original languageEnglish (US)
Pages (from-to)968-971
Number of pages4
JournalNature genetics
Volume44
Issue number9
DOIs
StatePublished - Sep 1 2012

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ASJC Scopus subject areas

  • Genetics

Cite this

Ludwig, K. U., Mangold, E., Herms, S., Nowak, S., Reutter, H., Paul, A., Becker, J., Herberz, R., Alchawa, T., Nasser, E., Böhmer, A. C., Mattheisen, M., Alblas, M. A., Barth, S., Kluck, N., Lauster, C., Braumann, B., Reich, R. H., Hemprich, A., ... Nöthen, 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