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Human Molecular Genetics Advance Access originally published online on November 21, 2005
Human Molecular Genetics 2005 14(24):3963-3971; doi:10.1093/hmg/ddi420
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© The Author 2005. Published by Oxford University Press. All rights reserved.
The online version of this article has been published under an open access model. Users are entitled to use, reproduce, disseminate, or display the open access version of this article for non-commercial purposes provided that: the original authorship is properly and fully attributed; the Journal and Oxford University Press are attributed as the original place of publication with the correct citation details given; if an article is subsequently reproduced or disseminated not in its entirety but only in part or as a derivative work this must be clearly indicated. For commercial re-use, please contact: journals.permissions@oxfordjournals.org

Mapping common regulatory variants to human haplotypes

Tomi Pastinen, Bing Ge, Scott Gurd, Tiffany Gaudin, Carole Dore, Mathieu Lemire, Pierre Lepage, Eef Harmsen and Thomas J. Hudson*

McGill University and Genome Quebec Innovation Center, Room 7105, 740 Dr Penfield Avenue, Montreal, Quebec, Canada H3A 1A4

* To whom correspondence should be addressed. Tel: +1 514 3983311 ext. 00385; Fax: +1 514 3982622; Email: tom.hudson{at}mcgill.ca

Received September 1, 2005; Accepted November 4, 2005

Inter-individual variation in gene expression has proven to be in part governed by genetic determinants, which may be trans- or cis-acting. The underlying cause of cis-acting regulatory variation has been identified in only a handful of the hundreds of genes shown to display differential allelic expression. In this report, we describe a systematic effort to map common cis-acting variants in 64 genes, using association methods in HapMap samples. We identified 16 loci (25%), each of which harbors common haplotypes that affect total expression of a gene, and a further 17 loci (27%) with evidence of haplotypes affecting relative allelic expression in heterozygote samples. Our survey suggests that detailed mapping of allele-specific in vivo expression will provide a rich source of regulatory SNPs or haplotypes that should be given high priority in association studies of human phenotypes.


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