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).

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

Mangold, E, Ludwig, K.U, Birnbaum, S, Baluardo, C, Ferrian, M, Herms, S, … Nöthen, M.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. doi:10.1038/ng.506