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Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

by Reich, Rudolf H , Barth, Sandra , Nowak, Stefanie , Becker, Jessica , AlChawa, Taofik , Kreusch, Thomas , Kluck, Nadine , Ruczinski, Ingo , Mossey, Peter A , Hemprich, Alexander , Daratsianos, Nikolaos , Wienker, Thomas F , Lange, Christoph , Nöthen, Markus M , Nasser, Entessar , Steegers-Theunissen, Regine P , Mangold, Elisabeth , Marazita, Mary L , Reutter, Heiko , Rubini, Michele , Herms, Stefan , Braumann, Bert , Blaumeiser, Bettina , Cichon, Sven , Herberz, Ruth , Mattheisen, Manuel , Murray, Jeffrey C , Knapp, Michael , Propping, Peter , Pötzsch, Simone , Ludwig, Kerstin U , Kramer, Franz-Josef , Scott, Alan F , Hoffmann, Per , Beaty, Terri H , Böhmer, Anne C , Alblas, Margrieta A , Lauster, Carola , Paul, Anna

in 631/208/205/2138 / 631/208/2489/144 / 631/208/727/2000 / 692/699/1670/1669 / Adult / Agriculture / Animal Genetics and Genomics / Binding sites / Biological and medical sciences / Biomedicine / brief-communication / Cancer Research / Child / Cleft lip / Cleft Lip - complications / Cleft Lip - epidemiology / Cleft Lip - genetics / Cleft Palate - complications / Cleft Palate - epidemiology / Cleft Palate - genetics / DNA methylation / Encyclopedias / Facial bones, jaws, teeth, parodontium: diseases, semeiology / Female / Fundamental and applied biological sciences. Psychology / Gene Function / Genealogy / Genes / Genetic aspects / Genetic Predisposition to Disease / Genetics / Genetics of eukaryotes. Biological and molecular evolution / Genome-Wide Association Study - statistics & numerical data / Genomes / Genotypes / Health aspects / Human Genetics / Humans / Hypotheses / Male / Medical sciences / Non tumoral diseases / Otorhinolaryngology. Stomatology / Parents / Polymorphism, Single Nucleotide - physiology / Quantitative trait loci / Risk Factors / Syndrome

2012

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Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

2012

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Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

2012

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Journal Article

Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

Reich, Rudolf H,

Barth, Sandra,

Nowak, Stefanie,

Becker, Jessica,

AlChawa, Taofik,

Kreusch, Thomas,

Kluck, Nadine,

Ruczinski, Ingo,

Mossey, Peter A,

Hemprich, Alexander,

Daratsianos, Nikolaos,

Wienker, Thomas F,

Lange, Christoph,

Nöthen, Markus M,

Nasser, Entessar,

Steegers-Theunissen, Regine P,

Mangold, Elisabeth,

Marazita, Mary L,

Reutter, Heiko,

Rubini, Michele,

Herms, Stefan,

Braumann, Bert,

Blaumeiser, Bettina,

Cichon, Sven,

Herberz, Ruth,

Mattheisen, Manuel,

Murray, Jeffrey C,

Knapp, Michael,

Propping, Peter,

Pötzsch, Simone,

Ludwig, Kerstin U,

Kramer, Franz-Josef,

Scott, Alan F,

Hoffmann, Per,

Beaty, Terri H,

Böhmer, Anne C,

Alblas, Margrieta A,

Lauster, Carola,

Paul, Anna

2012

Overview

Elisabeth Mangold and colleagues report a genome-wide meta-analyses of non-syndromic cleft lip with or without cleft palate (NSCL/P). They report six new genetic loci associated with risk for NSCL/P. We have conducted the first meta-analyses for nonsyndromic cleft lip with or without cleft palate (NSCL/P) using data from the two largest genome-wide association studies published to date. We confirmed associations with all previously identified loci and identified six additional susceptibility regions (1p36, 2p21, 3p11.1, 8q21.3, 13q31.1 and 15q22). Analysis of phenotypic variability identified the first specific genetic risk factor for NSCLP (nonsyndromic cleft lip plus palate) (rs8001641; P NSCLP = 6.51 × 10 −11 ; homozygote relative risk = 2.41, 95% confidence interval (CI) 1.84–3.16).

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Publisher

Nature Publishing Group US,Nature Publishing Group

Subject

/ Adult

/ Animal Genetics and Genomics