Genetic analysis of genome-wide variation in human gene expression.

@article{citeulike:446169, abstract = {Natural variation in gene expression is extensive in humans and other organisms, and variation in the baseline expression level of many genes has a heritable component. To localize the genetic determinants of these quantitative traits (expression phenotypes) in humans, we used microarrays to measure gene expression levels and performed genome-wide linkage analysis for expression levels of 3,554 genes in 14 large families. For approximately 1,000 expression phenotypes, there was significant evidence of linkage to specific chromosomal regions. Both cis- and trans-acting loci regulate variation in the expression levels of genes, although most act in trans. Many gene expression phenotypes are influenced by several genetic determinants. Furthermore, we found hotspots of transcriptional regulation where significant evidence of linkage for several expression phenotypes (up to 31) coincides, and expression levels of many genes that share the same regulatory region are significantly correlated. The combination of microarray techniques for phenotyping and linkage analysis for quantitative traits allows the genetic mapping of determinants that contribute to variation in human gene expression.}, address = {Department of Pediatrics, University of Pennsylvania, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.}, author = {Morley, M. and Molony, C. M. and Weber, T. M. and Devlin, J. L. and Ewens, K. G. and Spielman, R. S. and Cheung, V. G. }, citeulike-article-id = {446169}, doi = {http://dx.doi.org/10.1038/nature02797}, issn = {1476-4687}, journal = {Nature}, keywords = {eqtl}, month = {August}, number = {7001}, pages = {743--747}, posted-at = {2008-07-25 21:13:41}, priority = {2}, title = {Genetic analysis of genome-wide variation in human gene expression.}, url = {http://dx.doi.org/10.1038/nature02797}, volume = {430}, year = {2004} }

TY - JOUR ID - citeulike:446169 L3 - citeulike-article-id:446169 TI - Genetic analysis of genome-wide variation in human gene expression. JF - Nature VL - 430 IS - 7001 SP - 743 EP - 747 AD - Department of Pediatrics, University of Pennsylvania, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA. SN - 1476-4687 N2 - Natural variation in gene expression is extensive in humans and other organisms, and variation in the baseline expression level of many genes has a heritable component. To localize the genetic determinants of these quantitative traits (expression phenotypes) in humans, we used microarrays to measure gene expression levels and performed genome-wide linkage analysis for expression levels of 3,554 genes in 14 large families. For approximately 1,000 expression phenotypes, there was significant evidence of linkage to specific chromosomal regions. Both cis- and trans-acting loci regulate variation in the expression levels of genes, although most act in trans. Many gene expression phenotypes are influenced by several genetic determinants. Furthermore, we found hotspots of transcriptional regulation where significant evidence of linkage for several expression phenotypes (up to 31) coincides, and expression levels of many genes that share the same regulatory region are significantly correlated. The combination of microarray techniques for phenotyping and linkage analysis for quantitative traits allows the genetic mapping of determinants that contribute to variation in human gene expression. KW - eqtl AU - Morley, M AU - Molony, CM AU - Weber, TM AU - Devlin, JL AU - Ewens, KG AU - Spielman, RS AU - Cheung, VG PY - 2004/08/12/ UR - http://dx.doi.org/10.1038/nature02797 ER -