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

by Reich, Rudolf H , Chawa, Taofik Al , Wichmann, Hans-Erich , Barth, Sandra , Becker, Jessica , Ferrian, Melissa , Kluck, Nadine , Mossey, Peter A , Steffens, Michael , Meitinger, Thomas , Birnbaum, Stefanie , Moebus, Susanne , Schreiber, Stefan , Hemprich, Alexander , Wienker, Thomas F , Nöthen, Markus M , Steegers-Theunissen, Regine P , Mangold, Elisabeth , Baluardo, Carlotta , Reutter, Heiko , Rubini, Michele , Herms, Stefan , Schmidt, Gül , Braumann, Bert , Blaumeiser, Bettina , Cichon, Sven , Mattheisen, Manuel , Krawczak, Michael , Knapp, Michael , Propping, Peter , Pötzsch, Simone , Ludwig, Kerstin U , Scheer, Martin , Kramer, Franz-Josef , de Assis, Nilma Almeida , Hoffmann, Per , Lauster, Carola , Paul, Anna

in Agriculture / Animal Genetics and Genomics / Biological and medical sciences / Biomedical and Life Sciences / Biomedicine / brief-communication / Cancer Research / Chromosome Mapping / Cleft lip / Cleft Lip - complications / Cleft Lip - genetics / Cleft palate / Cleft Palate - complications / Cleft Palate - genetics / Data base management / Disease susceptibility / Education / Environmental health / Facial bones, jaws, teeth, parodontium: diseases, semeiology / Fundamental and applied biological sciences. Psychology / Gene Function / Genes / Genetic aspects / Genetic Predisposition to Disease - genetics / Genetics / Genetics of eukaryotes. Biological and molecular evolution / Genome-Wide Association Study - methods / Genotype & phenotype / Human Genetics / Humans / Mass spectrometry / Medical sciences / Non tumoral diseases / Otorhinolaryngology. Stomatology / Polymorphism, Single Nucleotide / Quality control

2010

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

2010

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

2010

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Journal Article

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

Reich, Rudolf H,

Chawa, Taofik Al,

Wichmann, Hans-Erich,

Barth, Sandra,

Becker, Jessica,

Ferrian, Melissa,

Kluck, Nadine,

Mossey, Peter A,

Steffens, Michael,

Meitinger, Thomas,

Birnbaum, Stefanie,

Moebus, Susanne,

Schreiber, Stefan,

Hemprich, Alexander,

Wienker, Thomas F,

Nöthen, Markus M,

Steegers-Theunissen, Regine P,

Mangold, Elisabeth,

Baluardo, Carlotta,

Reutter, Heiko,

Rubini, Michele,

Herms, Stefan,

Schmidt, Gül,

Braumann, Bert,

Blaumeiser, Bettina,

Cichon, Sven,

Mattheisen, Manuel,

Krawczak, Michael,

Knapp, Michael,

Propping, Peter,

Pötzsch, Simone,

Ludwig, Kerstin U,

Scheer, Martin,

Kramer, Franz-Josef,

de Assis, Nilma Almeida,

Hoffmann, Per,

Lauster, Carola,

Paul, Anna

2010

Overview

Elisabeth Mangold and colleagues report a genome-wide association study for non-syndromic cleft lip with or without cleft palate. 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 1.34–2.53) and 10q25.3 (rs7078160, combined P = 1.92 × 10 −8 , relative risk in homozygotes = 2.17, 95% CI 1.32–3.56).

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Publisher

Nature Publishing Group US,Nature Publishing Group

Subject

Agriculture

/ Animal Genetics and Genomics

/ Biological and medical sciences

/ Biomedical and Life Sciences

/ Biomedicine

/ brief-communication

/ Cancer Research