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 × 10-8, relative risk in homozygotes = 1.84, 95% CI 1.342.53) and 10q25.3 (rs7078160, combined P = 1.92 × 10-8, relative risk in homozygotes = 2.17, 95% CI 1.323.56).

doi.org/10.1038/ng.506, hdl.handle.net/1765/27061
Nature Genetics
Erasmus MC: University Medical Center Rotterdam

Mangold, E., Ludwig, K., Birnbaum, S., Baluardo, C., Ferrian, M., Herms, S., Reutter, H., de Assis, N. A., Chawa, T., Mattheisen, M., Steffens, M., Barth, S., Kluck, N., Paul, A., Becker, J., Lauster, C., Schmidt, G., Braumann, B., Scheer, M., … Nöthen, M. (2010). Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. Nature Genetics, 42(1), 24–26.https://doi.org/10.1038/ng.506