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GWAS Study

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

Mangold E, Ludwig KU, Birnbaum S et al.

20023658 PubMed ID
GWAS Study Type
2372 Participants
168 Views
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

ME
Mangold E
LK
Ludwig KU
BS
Birnbaum S
BC
Baluardo C
FM
Ferrian M
HS
Herms S
RH
Reutter H
DA
de Assis NA
CT
Chawa TA
MM
Mattheisen M
SM
Steffens M
BS
Barth S
KN
Kluck N
PA
Paul A
BJ
Becker J
LC
Lauster C
SG
Schmidt G
BB
Braumann B
SM
Scheer M
RR
Reich RH
HA
Hemprich A
PS
Pötzsch S
BB
Blaumeiser B
MS
Moebus S
KM
Krawczak M
SS
Schreiber S
MT
Meitinger T
WH
Wichmann HE
SR
Steegers-Theunissen RP
KF
Kramer FJ
CS
Cichon S
PP
Propping P
WT
Wienker TF
KM
Knapp M
RM
Rubini M
MP
Mossey PA
HP
Hoffmann P
NM
Nöthen MM
Chapter II

Abstract

Summary of the research findings

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).

399 European ancestry cases, 1,318 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

2372
Total Participants
GWAS
Study Type
Yes
Replicated
655 European ancestry triads
Replication Participants
European
Ancestry
Germany, Bulgaria, Slovenia, Italy, Netherlands, U.K., Spain, Estonia, Hungary, Slovakia
Recruitment Country
Chapter IV

AI-Generated Summary

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