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; 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

doi:10.1086/422475

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

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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, …

American Journal of Human Genetics, Vol.75(2), pp.161-173

08/01/2004

DOI: 10.1086/422475

PMCID: PMC1216052

PMID: 15185170

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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.

Dentistry

Genetic Markers

Nursing

Genetic Phenomena

Chromosomes

Human

Pair 2

Pair 9

Cleft Lip/genetics

Cleft Palate/genetics

Genetic Linkage

Genetic Predisposition to Disease

Humans

Lod Score

Details

Title: Subtitle: Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35
Creators: Mary L Marazita
Jeffrey C. Murray - University of Iowa
Andrew C. Lidral
Mauricio Arcos-Burgos
Margaret E. Cooper - University of Pittsburgh
Toby Goldstein
Brion S Maher
Sandra Daack-Hirsch - University of Iowa
Rebecca Schultz - University of Iowa
M. Adela Mansilla - University of Iowa
L Leigh Field
You-e Liu
Natalie Prescott
Sue Malcolm
Robin Winter
Ajit Ray
Lina Moreno - University of Iowa
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
Resource Type: Journal article
Publication Details: American Journal of Human Genetics, Vol.75(2), pp.161-173
DOI: 10.1086/422475
PMID: 15185170
PMCID: PMC1216052
NLM abbreviation: Am J Hum Genet
ISSN: 0002-9297
Language: English
Date published: 08/01/2004
Academic Unit: Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Nursing; Public Policy Center (Archive); Dental Research
Record Identifier: 9983557181802771

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