Angela van Daal
Angela van Daal
Associate Professor
Bond University
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Linkage disequilibrium analysis identifies an FGFR1 haplotype-tag SNP associated with normal variation in craniofacial shape
Angela Van Daal, Queensland University of Technology and Anna K. Coussens, Queensland University of Technology
DATE: February 2005
SOURCE: Genomics, Vol 85, Iss 5, pp.563-573
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Postprint
Coussens AK, A van Daal ( 2005) Linkage disequilibrium analysis identifies an FGFR1 haplotype-tag SNP associated with normal variation in craniofacial shape. Genomics. 85(5) 563-73.
This article is published by Elsevier Ltd.
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ABSTRACT:
Mutations in FGFR1 and TWIST1 have been reported to affect the timing of calvarial suture fusion resulting in craniosynostosis and facial abnormalities. We screened nonpathologic populations for genetic polymorphisms that may associate with normal craniofacial variation. We identified 17 single-nucleotide polymorphisms (SNPs) in FGFR1, 6 of which were novel (g.8591855G→A, g.8593685G→A, g.8602303C→T, g.8602475A→G (p.Ile293Val), g.8605849C→T, g.8607868G→A). No SNPs were found in TWIST1. FGFR1 SNP haplotypes were reconstructed for Caucasian, Asian, Australian Aboriginal, and African American populations. All populations shared two linkage disequilibrium blocks, with one haplotype-tag SNP (htSNP) tagging each block. The htSNP g.8592931G→C was found to have a significant negative correlation with the cephalic index for all populations (R = −0.187, p = 0.036), with larger correlations in Asians and females. This finding is a starting point in the identification of a set of SNPs that can be genotyped to determine both normal and disease craniofacial phenotypes.