Objective: To identify, in a non-hypothesis manner, novel genetic factors associated with nonsyndromic cleft lip with or without cleft palate (NSCL/P). Study design: 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. Results: 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 × 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 genomewide association study of NSCL/P in Germany, so this previous report acts as a de novo replication for our independent observation outlined here. Conclusions: These results strongly suggest that a locus on 8q24 is involved in the pathogenesis of NSCL/P. Copyright © 2009 Mosby Inc.
CITATION STYLE
Grant, S. F. A., Wang, K., Zhang, H., Glaberson, W., Annaiah, K., Kim, C. E., … Hakonarson, H. (2009). A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24. Journal of Pediatrics, 155(6), 909–913. https://doi.org/10.1016/j.jpeds.2009.06.020
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