Meta-Analysis of 13 Genome Scans Reveals Multiple Cleft Lip/Palate Genes with Novel Loci on 9q21 and 2q32-35
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- 作者：Mary L. Marazita ; Jeffrey C. Murray ; Andrew C. Lidral ; Mauricio Arcos-Burgos ; Margaret E. Cooper ; Toby Goldstein ; Brion S. Maher ; S ; ra 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 ; K
- 刊名：The American Journal of Human Genetics
- 出版年：2004
- 出版时间：August 2004
- 年：2004
- 卷：75
- 期：2
- 页码：161-173
- 全文大小：1478 K
文摘
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.