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Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results

Marazita, Mary L; Lidral, Andrew C; Murray, Jeffrey C; Field, L. Leigh; Maher, B.S.; Goldstein McHenry, T.; Cooper, Margaret E.; Govil, M.; Daack-Hirsch, Sandy; Riley, B.; Arcos-Burgos, Mauricio (Oscar)

Description

Objectives: Non-syndromic orofacial clefts, i.e. cleft lip (CL) and cleft palate (CP), are among the most common birth defects. The goal of this study was to identify genomic regions and genes for CL with or without CP (CL/P). Methods: We performed linkage analyses of a 10 cM genome scan in 820 multiplex CL/P families (6,565 individuals). Significant linkage results were followed by association analyses of 1,476 SNPs in candidate genes and regions, utilizing a weighted false discovery rate...[Show more]

CollectionsANU Research Publications
Date published: 2009
Type: Journal article
URI: http://hdl.handle.net/1885/79900
Source: Human Heredity
DOI: 10.1159/000224636

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