Genome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.
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).
Mangold
Elisabeth
E
Institute of Human Genetics, Life and Brain Center, University of Bonn, Bonn, Germany. e.mangold@uni-bonn.de
Ludwig
Kerstin U
KU
Birnbaum
Stefanie
S
Baluardo
Carlotta
C
Ferrian
Melissa
M
Herms
Stefan
S
Reutter
Heiko
H
de Assis
Nilma Almeida
NA
Chawa
Taofik Al
TA
Mattheisen
Manuel
M
Steffens
Michael
M
Barth
Sandra
S
Kluck
Nadine
N
Paul
Anna
A
Becker
Jessica
J
Lauster
Carola
C
Schmidt
Gül
G
Braumann
Bert
B
Scheer
Martin
M
Reich
Rudolf H
RH
Hemprich
Alexander
A
Pötzsch
Simone
S
Blaumeiser
Bettina
B
Moebus
Susanne
S
Krawczak
Michael
M
Schreiber
Stefan
S
Meitinger
Thomas
T
Wichmann
Hans-Erich
HE
Steegers-Theunissen
Regine P
RP
Kramer
Franz-Josef
FJ
Cichon
Sven
S
Propping
Peter
P
Wienker
Thomas F
TF
Knapp
Michael
M
Rubini
Michele
M
Mossey
Peter A
PA
Hoffmann
Per
P
Nöthen
Markus M
MM
D002874:Chromosome Mapping; D002971:Cleft Lip / Q000150:complications / Q000235:genetics*; D002972:Cleft Palate / Q000150:complications / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D055106:Genome-Wide Association Study / Q000379:methods*; D006801:Humans; D020641:Polymorphism, Single Nucleotide