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 × 10(-11); homozygote relative risk = 2.41, 95% confidence interval (CI) 1.84-3.16).
authors.affiliation: Institute of Human Genetics, University of Bonn, Germany.
authors.forename: Kerstin U
authors.initials: KU
authors.lastname: Ludwig
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Mangold
authors.forename: Stefan
authors.initials: S
authors.lastname: Herms
authors.forename: Stefanie
authors.initials: S
authors.lastname: Nowak
authors.forename: Heiko
authors.initials: H
authors.lastname: Reutter
authors.forename: Anna
authors.initials: A
authors.lastname: Paul
authors.forename: Jessica
authors.initials: J
authors.lastname: Becker
authors.forename: Ruth
authors.initials: R
authors.lastname: Herberz
authors.forename: Taofik
authors.initials: T
authors.lastname: AlChawa
authors.forename: Entessar
authors.initials: E
authors.lastname: Nasser
authors.forename: Anne C
authors.initials: AC
authors.lastname: Böhmer
authors.forename: Manuel
authors.initials: M
authors.lastname: Mattheisen
authors.forename: Margrieta A
authors.initials: MA
authors.lastname: Alblas
authors.forename: Sandra
authors.initials: S
authors.lastname: Barth
authors.forename: Nadine
authors.initials: N
authors.lastname: Kluck
authors.forename: Carola
authors.initials: C
authors.lastname: Lauster
authors.forename: Bert
authors.initials: B
authors.lastname: Braumann
authors.forename: Rudolf H
authors.initials: RH
authors.lastname: Reich
authors.forename: Alexander
authors.initials: A
authors.lastname: Hemprich
authors.forename: Simone
authors.initials: S
authors.lastname: Pötzsch
authors.forename: Bettina
authors.initials: B
authors.lastname: Blaumeiser
authors.forename: Nikolaos
authors.initials: N
authors.lastname: Daratsianos
authors.forename: Thomas
authors.initials: T
authors.lastname: Kreusch
authors.forename: Jeffrey C
authors.initials: JC
authors.lastname: Murray
authors.forename: Mary L
authors.initials: ML
authors.lastname: Marazita
authors.forename: Ingo
authors.initials: I
authors.lastname: Ruczinski
authors.forename: Alan F
authors.initials: AF
authors.lastname: Scott
authors.forename: Terri H
authors.initials: TH
authors.lastname: Beaty
authors.forename: Franz-Josef
authors.initials: FJ
authors.lastname: Kramer
authors.forename: Thomas F
authors.initials: TF
authors.lastname: Wienker
authors.forename: Regine P
authors.initials: RP
authors.lastname: Steegers-Theunissen
authors.forename: Michele
authors.initials: M
authors.lastname: Rubini
authors.forename: Peter A
authors.initials: PA
authors.lastname: Mossey
authors.forename: Per
authors.initials: P
authors.lastname: Hoffmann
authors.forename: Christoph
authors.initials: C
authors.lastname: Lange
authors.forename: Sven
authors.initials: S
authors.lastname: Cichon
authors.forename: Peter
authors.initials: P
authors.lastname: Propping
authors.forename: Michael
authors.initials: M
authors.lastname: Knapp
authors.forename: Markus M
authors.initials: MM
authors.lastname: Nöthen
mesh_terms: D000328:Adult; D002648:Child; D002971:Cleft Lip / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D002972:Cleft Palate / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study / Q000706:statistics & numerical data*; D006801:Humans; D008297:Male; D010290:Parents; D020641:Polymorphism, Single Nucleotide / Q000502:physiology; D012307:Risk Factors; D013577:Syndrome