Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35 |
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| Authors: | Marazita Mary L Murray Jeffrey C Lidral Andrew C Arcos-Burgos Mauricio Cooper Margaret E Goldstein Toby Maher Brion S Daack-Hirsch Sandra Schultz Rebecca Mansilla M Adela Field L Leigh Liu You-e Prescott Natalie Malcolm Sue Winter Robin Ray Ajit Moreno Lina Valencia Consuelo Neiswanger Katherine Wyszynski Diego F Bailey-Wilson Joan E Albacha-Hejazi Hasan Beaty Terri H McIntosh Iain Hetmanski Jacqueline B Tunçbilek Gökhan Edwards Matthew Harkin Louise Scott Rodney Roddick Laurence G |
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| Affiliation: | Center for Craniofacial and Dental Genetics, Division of Oral Biology, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15219, USA. marazita@sdmgenetics.pitt.edu |
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| Abstract: | 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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