B.M. Riley and R.E. Schultz contributed equally to this work.
Article first published online: 15 MAR 2007
Copyright © 2007 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 143A, Issue 8, pages 846–852, 15 April 2007
How to Cite
Riley, B.M., Schultz, R.E., Cooper, M.E., Goldstein-McHenry, T., Daack-Hirsch, S., Lee, K.T., Dragan, E., Vieira, A.R., Lidral, A.C., Marazita, M.L. and Murray, J.C. (2007), A genome-wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11-23. Am. J. Med. Genet., 143A: 846–852. doi: 10.1002/ajmg.a.31673
How to cite this article: Riley BM, Schultz RE, Cooper ME, Goldstein-McHenry T, Daack-Hirsch S, Lee KT, Dragan E, Vieira AR, Lidral AC, Marazita ML, Murray JC. 2007. A genome-wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11-23. Am J Med Genet Part A 143A:846–852.
- Issue published online: 20 MAR 2007
- Article first published online: 15 MAR 2007
- Manuscript Accepted: 14 DEC 2006
- Manuscript Received: 3 AUG 2006
- NIH. Grant Numbers: R37-DE08559, P50-DE016215, 5T32GM008629
- Center for Inherited Disease Research (CIDR). Grant Number: N01-HG-65403
- cleft lip and palate;
- linkage analysis;
- association analysis;
- fine mapping;
- SNP markers;
Isolated or nonsyndromic cleft lip and palate (NS CLP) is a complex disorder resulting from multiple genetic and environmental factors. NS CLP has a birth prevalence of 1 per 500 in the Philippines where large families provide an opportunity for gene localization. Genotyping of 392 microsatellite repeat markers at 10 cM intervals over the genome was performed by the Center for Inherited Disease Research (CIDR) on 220 Filipino families with 567 affected and 1,109 unaffected family members genotyped. Among the most statistically significant results from analysis of the genome-wide scan data was a 20 cM region at 8p11-23 in which markers had LODs ≥1.0. This region on 8p11-23 has not been found in any previous genome wide scan nor does it contain any of the candidate genes widely studied in CLP. Fine mapping in 8p11-23 was done in the 220 families plus an additional 51 families, using SNP markers from 10 known genes (FGFR1, NRG1, FZD3, SLC8A1, PPP3CC, EPHX2, BNIP3L, EGR3, PPP2R2A, and NAT1) within the 20 cM region of 8p11-23. Linkage and association analyses of these SNPs yield suggestive results for markers in FGFR1 (recessive multipoint HLOD 1.07) and BAG4 (recessive multipoint HLOD 1.31). © 2007 Wiley-Liss, Inc.