Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.
- Mangold, E.
- Ludwig, K.U.
- Birnbaum, S.
- Baluardo, C.
- Ferrian, M.
- Herms, S.
- Reutter, H.
- de Assis, N.A.
- Chawa, T.A.
- Mattheisen, M.
- Steffens, M.
- Barth, S.
- Kluck, N.
- Paul, A.
- Beckers, J.
- Lauster, C.
- Schmidt, G.
- Braumann, B.
- Scheer, M.
- Reich, R.H.
- Hemprich, A.
- Pötzsch, S.
- Blaumeiser, B.
- Moebus, S.
- Krawczak, M.
- Schreiber, S.
- Meitinger, T.
- Wichmann, H.-E.
- Steegers-Theunissen, R.P.
- Kramer, F.J.
- Cichon, S.
- Propping, P.
- Wienker, T.F.
- Knapp, M.
- Rubini, M.
- Mossey, P.A.
- Hoffmann, P.
- Nöthen, M.M.
DOIAbstract
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 x 10(-8), relative risk in homozygotes = 1.84, 95% CI 1.34-2.53) and 10q25.3 (rs7078160, combined P = 1.92 x 10(-8), relative risk in homozygotes = 2.17, 95% CI 1.32-3.56)
Add to ORKG