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

Mary L Marazita; Jeffrey C Murray; Andrew C Lidral; Mauricio Arcos-Burgos; Margaret E Cooper; Toby Goldstein; Brion S Maher; Sandra Daack-Hirsch; Rebecca Schultz; M Adela Mansilla; +20 more... L Leigh Field; You-e Liu; Natalie Prescott; Sue Malcolm; Robin Winter; Ajit Ray; Lina Moreno; Consuelo Valencia; Katherine Neiswanger; Diego F Wyszynski; Joan E Bailey-Wilson; Hasan Albacha-Hejazi; Terri H Beaty; Iain McIntosh; Jacqueline B Hetmanski; Gökhan Tunçbilek; Matthew Edwards; Louise Harkin; Rodney Scott; Laurence G Roddick; (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
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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.

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