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

SUBMITTER: Ludwig KU 

PROVIDER: S-EPMC3598617 | biostudies-literature | 2012 Sep

REPOSITORIES: biostudies-literature

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

Ludwig Kerstin U KU   Mangold Elisabeth E   Herms Stefan S   Nowak Stefanie S   Reutter Heiko H   Paul Anna A   Becker Jessica J   Herberz Ruth R   AlChawa Taofik T   Nasser Entessar E   Böhmer Anne C AC   Mattheisen Manuel M   Alblas Margrieta A MA   Barth Sandra S   Kluck Nadine N   Lauster Carola C   Braumann Bert B   Reich Rudolf H RH   Hemprich Alexander A   Pötzsch Simone S   Blaumeiser Bettina B   Daratsianos Nikolaos N   Kreusch Thomas T   Murray Jeffrey C JC   Marazita Mary L ML   Ruczinski Ingo I   Scott Alan F AF   Beaty Terri H TH   Kramer Franz-Josef FJ   Wienker Thomas F TF   Steegers-Theunissen Regine P RP   Rubini Michele M   Mossey Peter A PA   Hoffmann Per P   Lange Christoph C   Cichon Sven S   Propping Peter P   Knapp Michael M   Nöthen Markus M MM  

Nature genetics 20120805 9


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(  ...[more]

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