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; PNSCLP = 6.51 × 10-11; homozygote relative risk = 2.41, 95% confidence interval (CI) 1.84-3.16). © 2012 Nature America, Inc. All rights reserved.