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Mapping common regulatory variants to human haplotypes

2005; Oxford University Press; Volume: 14; Issue: 24 Linguagem: Inglês

10.1093/hmg/ddi420

1460-2083

Tomi Pastinen, Bing Ge, Scott Gurd, Tiffany Gaudin, Carole Doré, Mathieu Lemire, Patricia Lepage, Eef Harmsen, Thomas J. Hudson,

Epigenetics and DNA Methylation

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.