Mapping common regulatory variants to human haplotypes

Hum Mol Genet. 2005 Dec 15;14(24):3963-71. doi: 10.1093/hmg/ddi420. Epub 2005 Nov 21.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping / methods*
  • Genetic Variation
  • Haplotypes / genetics*
  • Humans
  • Polymorphism, Single Nucleotide
  • Regulatory Sequences, Nucleic Acid*