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Nat Genet. 2009 Apr;41(4):473-7. doi: 10.1038/ng.333. Epub 2009 Mar 8.

Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.

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1
Institute of Human Genetics, University of Bonn, Bonn, Germany.

Abstract

We conducted a genome-wide association study involving 224 cases and 383 controls of Central European origin to identify susceptibility loci for nonsyndromic cleft lip with or without cleft palate (NSCL/P). A 640-kb region at chromosome 8q24.21 was found to contain multiple markers with highly significant evidence for association with the cleft phenotype, including three markers that reached genome-wide significance. The 640-kb cleft-associated region was saturated with 146 SNP markers and then analyzed in our entire NSCL/P sample of 462 unrelated cases and 954 controls. In the entire sample, the most significant SNP (rs987525) had a P value of 3.34 x 10(-24). The odds ratio was 2.57 (95% CI = 2.02-3.26) for the heterozygous genotype and 6.05 (95% CI = 3.88-9.43) for the homozygous genotype. The calculated population attributable risk for this marker is 0.41, suggesting that this study has identified a major susceptibility locus for NSCL/P.

PMID:
19270707
DOI:
10.1038/ng.333
[Indexed for MEDLINE]
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