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

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

doi:10.1038/ng.506

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

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

Research output: Contribution to journal › Article › peer-review

267 Citations (Scopus)

Abstract

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).

Original language	English
Pages (from-to)	24-26
Number of pages	3
Journal	Nature Genetics
Volume	42
Issue number	1
DOIs	https://doi.org/10.1038/ng.506
Publication status	Published - Jan 2010

Keywords

GENE

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10.1038/ng.506

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Mangold, E., Ludwig, K. U., Birnbaum, S., Baluardo, C., Ferrian, M., Herms, S., Reutter, H., de Assis, N. A., Al Chawa, T., Mattheisen, M., Steffens, M., Barth, S., Kluck, N., Paul, A., Becker, J., Lauster, C., Schmidt, G., Braumann, B., Scheer, M., ... Noethen, 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. https://doi.org/10.1038/ng.506

Mangold, Elisabeth ; Ludwig, Kerstin U. ; Birnbaum, Stefanie ; Baluardo, Carlotta ; Ferrian, Melissa ; Herms, Stefan ; Reutter, Heiko ; de Assis, Nilma Almeida ; Al Chawa, Taofik ; Mattheisen, Manuel ; Steffens, Michael ; Barth, Sandra ; Kluck, Nadine ; Paul, Anna ; Becker, Jessica ; Lauster, Carola ; Schmidt, Guel ; Braumann, Bert ; Scheer, Martin ; Reich, Rudolf H. ; Hemprich, Alexander ; Poetzsch, Simone ; Blaumeiser, Bettina ; Moebus, Susanne ; Krawczak, Michael ; Schreiber, Stefan ; Meitinger, Thomas ; Wichmann, Hans-Erich ; Steegers-Theunissen, Regine P. ; Kramer, Franz-Josef ; Cichon, Sven ; Propping, Peter ; Wienker, Thomas F. ; Knapp, Michael ; Rubini, Michele ; Mossey, Peter A. ; Hoffmann, Per ; Noethen, Markus M. / Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. In: Nature Genetics. 2010 ; Vol. 42, No. 1. pp. 24-26.

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

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

year = "2010",

month = jan,

doi = "10.1038/ng.506",

language = "English",

volume = "42",

pages = "24--26",

journal = "Nature Genetics",

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Mangold, E, Ludwig, KU, Birnbaum, S, Baluardo, C, Ferrian, M, Herms, S, Reutter, H, de Assis, NA, Al Chawa, T, Mattheisen, M, Steffens, M, Barth, S, Kluck, N, Paul, A, Becker, J, Lauster, C, Schmidt, G, Braumann, B, Scheer, M, Reich, RH, Hemprich, A, Poetzsch, S, Blaumeiser, B, Moebus, S, Krawczak, M, Schreiber, S, Meitinger, T, Wichmann, H-E, Steegers-Theunissen, RP, Kramer, F-J, Cichon, S, Propping, P, Wienker, TF, Knapp, M, Rubini, M, Mossey, PA, Hoffmann, P & Noethen, MM 2010, 'Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate', Nature Genetics, vol. 42, no. 1, pp. 24-26. https://doi.org/10.1038/ng.506

Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate. / Mangold, Elisabeth (Lead / Corresponding author); Ludwig, Kerstin U.; Birnbaum, Stefanie; Baluardo, Carlotta; Ferrian, Melissa; Herms, Stefan; Reutter, Heiko; de Assis, Nilma Almeida; Al Chawa, Taofik; Mattheisen, Manuel; Steffens, Michael; Barth, Sandra; Kluck, Nadine; Paul, Anna; Becker, Jessica; Lauster, Carola; Schmidt, Guel; Braumann, Bert; Scheer, Martin; Reich, Rudolf H.; Hemprich, Alexander; Poetzsch, Simone; Blaumeiser, Bettina; Moebus, Susanne; Krawczak, Michael; Schreiber, Stefan; Meitinger, Thomas; Wichmann, Hans-Erich; Steegers-Theunissen, Regine P.; Kramer, Franz-Josef; Cichon, Sven; Propping, Peter; Wienker, Thomas F.; Knapp, Michael; Rubini, Michele; Mossey, Peter A.; Hoffmann, Per; Noethen, Markus M.

In: Nature Genetics, Vol. 42, No. 1, 01.2010, p. 24-26.

Research output: Contribution to journal › Article › peer-review

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T1 - Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate

AU - Mangold, Elisabeth

AU - Ludwig, Kerstin U.

AU - Birnbaum, Stefanie

AU - Baluardo, Carlotta

AU - Ferrian, Melissa

AU - Herms, Stefan

AU - Reutter, Heiko

AU - de Assis, Nilma Almeida

AU - Al Chawa, Taofik

AU - Mattheisen, Manuel

AU - Steffens, Michael

AU - Barth, Sandra

AU - Kluck, Nadine

AU - Paul, Anna

AU - Becker, Jessica

AU - Lauster, Carola

AU - Schmidt, Guel

AU - Braumann, Bert

AU - Scheer, Martin

AU - Reich, Rudolf H.

AU - Hemprich, Alexander

AU - Poetzsch, Simone

AU - Blaumeiser, Bettina

AU - Moebus, Susanne

AU - Krawczak, Michael

AU - Schreiber, Stefan

AU - Meitinger, Thomas

AU - Wichmann, Hans-Erich

AU - Steegers-Theunissen, Regine P.

AU - Kramer, Franz-Josef

AU - Cichon, Sven

AU - Propping, Peter

AU - Wienker, Thomas F.

AU - Knapp, Michael

AU - Rubini, Michele

AU - Mossey, Peter A.

AU - Hoffmann, Per

AU - Noethen, Markus M.

PY - 2010/1

Y1 - 2010/1

N2 - 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).

AB - 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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VL - 42

SP - 24

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