Article
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.
Johns Hopkins University, School of Public Health, Baltimore, Maryland, USA.
Nature Genetics (impact factor:
35.53).
06/2010;
42(6):525-9.
DOI:10.1038/ng.580
Source: PubMed
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Article: A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24.
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ABSTRACT: To identify, in a non-hypothesis manner, novel genetic factors associated with nonsyndromic cleft lip with or without cleft palate (NSCL/P). We performed a genome-wide association study in a pediatric cohort of European decent consisting of 111 NSCL/P cases and 5951 control subjects. All subjects were consecutively recruited from the Greater Philadelphia area from 2006 to 2009. High throughput genome-wide single nucleotide polymorphism genotyping was carried out with the Illumina Infinium II HumanHap550 BeadChip technology. We observed association at the genome-wide significance level with SNP rs987525 at a locus on 8q24, which harbors no characterized genes to date (P = 9.18 x 10(-8); odds ratio = 2.09, 95% confidence interval = 1.59 to 2.76). While searching for a replication cohort, the same genetic determinant was established through a genome-wide association study of NSCL/P in Germany, so this previous report acts as a de novo replication for our independent observation outlined here. These results strongly suggest that a locus on 8q24 is involved in the pathogenesis of NSCL/P.The Journal of pediatrics 09/2009; 155(6):909-13. · 4.02 Impact Factor -
Article: Interferon regulatory factor 6 (IRF6) is associated with oral-facial cleft in individuals that originate in South America.
American Journal of Medical Genetics Part A 10/2007; 143A(17):2075-8. · 2.39 Impact Factor -
Article: Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24.
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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.Nature Genetics 05/2009; 41(4):473-7. · 35.53 Impact Factor
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Keywords
ABCA4
Asian ancestry groups
Case-parent trios
chromosome 8q24
cleft lip
cleft palate
effect sizes
European ancestry
genome-wide association study
minor allele
odds ratio
regions
Replication studies
similar
statistical significance
Stratifying trios
stronger evidence
