Title

A genome-wide linkage scan for cleft lip and cleft palate identifies a novel locus on 8p11-23

Document Type

Article

Peer Reviewed

1

Publication Date

4-15-2007

Journal, Book or Conference Title

American journal of medical genetics.Part A

NLM Title Abbreviation

Am J Med Genet A

PubMed ID

17366557

DOI

10.1002/ajmg.a.31673

Abstract

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 > or =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).

Keywords

Adaptor Proteins, Signal Transducing, Chromosome Mapping, Chromosomes, Human, Pair 8, Cleft Lip/genetics, Cleft Palate/genetics, Family Health, Genetic Linkage, Genomics, Genotype, Humans, Lod Score, Microsatellite Repeats, Philippines/epidemiology, Prevalence, Receptor, Fibroblast Growth Factor, Type 1/genetics

Published Article/Book Citation

The definitive version was published in American journal of medical genetics.Part A, 143A:8 (2007) pp.846-852. DOI:10.1002/ajmg.a.31673.

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URL

http://ir.uiowa.edu/nursing_pubs/756