Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35.

Marazita, ML; Murray, JC; Lidral, AC; Arcos-Burgos, M; Cooper, ME; Goldstein, T; Maher, BS; Daack-Hirsch, S; Schultz, R; Mansilla, MA; +20 more...Field, LL; Liu, Y; Prescott, N; Malcolm, S; Winter, R; Ray, A; Moreno, L; Valencia, C; Neiswanger, K; Wyszynski, DF; Bailey-Wilson, JE; Albacha-Hejazi, H; Beaty, TH; McIntosh, I; Hetmanski, JB; Tunçbilek, G; Edwards, M; Harkin, L; Scott, R; Roddick, LG and (2004) Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35. Am J Hum Genet, 75 (2). pp. 161-173. ISSN 0002-9297 DOI: 10.1086/422475
Copy

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.

Full text not available from this repository.

Atom BibTeX OpenURL ContextObject in Span Multiline CSV OpenURL ContextObject Dublin Core Dublin Core MPEG-21 DIDL Data Cite XML EndNote HTML Citation JSON MARC (ASCII) MARC (ISO 2709) METS MODS RDF+N3 RDF+N-Triples RDF+XML RIOXX2 XML Reference Manager Refer Simple Metadata ASCII Citation EP3 XML
Export

Downloads