Mapping common regulatory variants to human haplotypes.
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.
Pastinen
Tomi
T
McGill University and Genome Quebec Innovation Center, Montreal, Quebec, Canada.
Ge
Bing
B
Gurd
Scott
S
Gaudin
Tiffany
T
Dore
Carole
C
Lemire
Mathieu
M
Lepage
Pierre
P
Harmsen
Eef
E
Hudson
Thomas J
TJ
D002874:Chromosome Mapping / Q000379:methods*; D014644:Genetic Variation; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D012045:Regulatory Sequences, Nucleic Acid