Mapping common regulatory variants to human haplotypes

@article{pastinen:2005, abstract = {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. 10.1093/hmg/ddi420}, author = {Pastinen, Tomi and Ge, Bing and Gurd, Scott and Gaudin, Tiffany and Dore, Carole and Lemire, Mathieu and Lepage, Pierre and Harmsen, Eef and Hudson, Thomas J.}, citeulike-article-id = {1410336}, doi = {10.1093/hmg/ddi420}, journal = {Hum. Mol. Genet.}, keywords = {allele, specific, transcript}, month = {December}, number = {24}, pages = {3963--3971}, posted-at = {2007-06-25 10:52:25}, priority = {0}, title = {Mapping common regulatory variants to human haplotypes}, url = {http://dx.doi.org/10.1093/hmg/ddi420}, volume = {14}, year = {2005} }

TY - JOUR ID - pastinen:2005 L3 - citeulike-article-id:1410336 N2 - 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. 10.1093/hmg/ddi420 IS - 24 JF - Hum. Mol. Genet. EP - 3971 TI - Mapping common regulatory variants to human haplotypes VL - 14 SP - 3963 KW - allele KW - specific KW - transcript AU - Pastinen, Tomi AU - Ge, Bing AU - Gurd, Scott AU - Gaudin, Tiffany AU - Dore, Carole AU - Lemire, Mathieu AU - Lepage, Pierre AU - Harmsen, Eef AU - Hudson, Thomas PY - 2005/12/15/ UR - http://dx.doi.org/10.1093/hmg/ddi420 ER -