Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35
NLM Title Abbreviation
Am J Hum Genet
American Journal of Human Genetics
DOI of Published Version
Isolated or nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect with a complex etiology. A 10-cM genome scan of 388 extended multiplex families with CL/P from seven diverse populations (2,551 genotyped individuals) revealed CL/P genes in six chromosomal regions, including a novel region at 9q21 (heterogeneity LOD score [HLOD]=6.6). In addition, meta-analyses with the addition of results from 186 more families (six populations; 1,033 genotyped individuals) showed genomewide significance for 10 more regions, including another novel region at 2q32-35 (P=.0004). These are the first genomewide significant linkage results ever reported for CL/P, and they represent an unprecedented demonstration of the power of linkage analysis to detect multiple genes simultaneously for a complex disorder.
Chromosomes, Human, Pair 2, Chromosomes, Human, Pair 9, Cleft Lip/genetics, Cleft Palate/genetics, Genetic Linkage, Genetic Markers, Genetic Predisposition to Disease, Humans, Lod Score
Published Article/Book Citation
American Journal of Human Genetics, 75:2 (2004) pp.161-173. DOI:10.1086/422475.