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

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

doi:10.1038/ng.2360

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

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

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

269 Citations (Scopus)

Abstract

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 x 10(-11); homozygote relative risk = 2.41, 95% confidence interval (CI) 1.84-3.16).

Original language	English
Pages (from-to)	968-971
Number of pages	4
Journal	Nature Genetics
Volume	44
Issue number	9
DOIs	https://doi.org/10.1038/ng.2360
Publication status	Published - Sept 2012

Access to Document

10.1038/ng.2360

Cite this

Ludwig, K. U., Mangold, E., Herms, S., Nowak, S., Reutter, H., Paul, A., Becker, J., Herberz, R., AlChawa, T., Nasser, E., Boehmer, A. C., Mattheisen, M., Alblas, M. A., Barth, S., Kluck, N., Lauster, C., Braumann, B., Reich, R. H., Hemprich, A., ... Noethen, M. M. (2012). Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. Nature Genetics, 44(9), 968-971. https://doi.org/10.1038/ng.2360

@article{f2521f1bcbb849ab9580322ba8ad586d,

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

abstract = "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 x 10(-11); homozygote relative risk = 2.41, 95% confidence interval (CI) 1.84-3.16).",

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

year = "2012",

month = sep,

doi = "10.1038/ng.2360",

language = "English",

volume = "44",

pages = "968--971",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

number = "9",

}

Ludwig, KU, Mangold, E, Herms, S, Nowak, S, Reutter, H, Paul, A, Becker, J, Herberz, R, AlChawa, T, Nasser, E, Boehmer, AC, Mattheisen, M, Alblas, MA, Barth, S, Kluck, N, Lauster, C, Braumann, B, Reich, RH, Hemprich, A, Poetzsch, S, Blaumeiser, B, Daratsianos, N, Kreusch, T, Murray, JC, Marazita, ML, Ruczinski, I, Scott, AF, Beaty, TH, Kramer, F-J, Wienker, TF, Steegers-Theunissen, RP, Rubini, M, Mossey, PA, Hoffmann, P, Lange, C, Cichon, S, Propping, P, Knapp, M & Noethen, MM 2012, 'Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci', Nature Genetics, vol. 44, no. 9, pp. 968-971. https://doi.org/10.1038/ng.2360

TY - JOUR

T1 - Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci

AU - Ludwig, Kerstin U.

AU - Mangold, Elisabeth

AU - Herms, Stefan

AU - Nowak, Stefanie

AU - Reutter, Heiko

AU - Paul, Anna

AU - Becker, Jessica

AU - Herberz, Ruth

AU - AlChawa, Taofik

AU - Nasser, Entessar

AU - Boehmer, Anne C.

AU - Mattheisen, Manuel

AU - Alblas, Margrieta A.

AU - Barth, Sandra

AU - Kluck, Nadine

AU - Lauster, Carola

AU - Braumann, Bert

AU - Reich, Rudolf H.

AU - Hemprich, Alexander

AU - Poetzsch, Simone

AU - Blaumeiser, Bettina

AU - Daratsianos, Nikolaos

AU - Kreusch, Thomas

AU - Murray, Jeffrey C.

AU - Marazita, Mary L.

AU - Ruczinski, Ingo

AU - Scott, Alan F.

AU - Beaty, Terri H.

AU - Kramer, Franz-Josef

AU - Wienker, Thomas F.

AU - Steegers-Theunissen, Regine P.

AU - Rubini, Michele

AU - Mossey, Peter A.

AU - Hoffmann, Per

AU - Lange, Christoph

AU - Cichon, Sven

AU - Propping, Peter

AU - Knapp, Michael

AU - Noethen, Markus M.

PY - 2012/9

Y1 - 2012/9

N2 - 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 x 10(-11); homozygote relative risk = 2.41, 95% confidence interval (CI) 1.84-3.16).

AB - 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 x 10(-11); homozygote relative risk = 2.41, 95% confidence interval (CI) 1.84-3.16).

UR - http://www.scopus.com/inward/record.url?scp=84864469869&partnerID=8YFLogxK

U2 - 10.1038/ng.2360

DO - 10.1038/ng.2360

M3 - Article

SN - 1061-4036

VL - 44

SP - 968

EP - 971

JO - Nature Genetics

JF - Nature Genetics

IS - 9

ER -

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

Abstract

Access to Document

Other files and links

Fingerprint

Cite this