Title
Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
New York, N.Y. ,
Subject
Human medicine
Source (journal)
Nature genetics. - New York, N.Y.
Volume/pages
44(2012) :9 , p. 968-971
ISSN
1061-4036
ISI
000308491200005
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
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).
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