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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.*

Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.

Nat. Genet. 42, 24-26 (2010)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
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).
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Publication type Article: Journal article
Document type Scientific Article
Keywords Chromosome Mapping; Cleft Lip/complications; Cleft Lip/genetics; Cleft Palate/complications; Cleft Palate/genetics; Genetic Predisposition to Disease/genetics; Genome-Wide Association Study/methods; Humans; Polymorphism; Single Nucleotide; KORA
Language english
Publication Year 2010
HGF-reported in Year 2010
ISSN (print) / ISBN 1061-4036
e-ISSN 1546-1718
Journal Nature Genetics
Quellenangaben Volume: 42, Issue: 1, Pages: 24-26 Article Number: , Supplement: ,
Publisher Nature Publishing Group
Publishing Place New York, NY
Reviewing status Peer reviewed
Institute(s) Institute of Epidemiology (EPI)
Institute of Human Genetics (IHG)
POF-Topic(s) 30503 - Chronic Diseases of the Lung and Allergies

30202 - Environmental Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-503900-001
G-504090-001
PubMed ID 20023658
DOI 10.1038/ng.506
Scopus ID 73349086542
Erfassungsdatum 2010-03-22
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