Systematic name M16720
Brief description Top scoring cis-regulated QTL (quantitative trait loci) influencing blood levels of high-density lipoprotein (HDL) cholesterol.
Full description or abstract Quantitative differences in gene expression are thought to contribute to phenotypic differences between individuals. We generated genome-wide transcriptional profiles of lymphocyte samples from 1,240 participants in the San Antonio Family Heart Study. The expression levels of 85% of the 19,648 detected autosomal transcripts were significantly heritable. Linkage analysis uncovered >1,000 cis-regulated transcripts at a false discovery rate of 5% and showed that the expression quantitative trait loci with the most significant linkage evidence are often located at the structural locus of a given transcript. To highlight the usefulness of this much-enlarged map of cis-regulated transcripts for the discovery of genes that influence complex traits in humans, as an example we selected high-density lipoprotein cholesterol concentration as a phenotype of clinical importance, and identified the cis-regulated vanin 1 (VNN1) gene as harboring sequence variants that influence high-density lipoprotein cholesterol concentrations.
Collection C2: curated gene sets
      CGP: chemical and genetic perturbations
Source publication Pubmed 17873875   Authors: Göring HH,Curran JE,Johnson MP,Dyer TD,Charlesworth J,Cole SA,Jowett JB,Abraham LJ,Rainwater DL,Comuzzie AG,Mahaney MC,Almasy L,MacCluer JW,Kissebah AH,Collier GR,Moses EK,Blangero J
Exact source Table 2S
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Organism Homo sapiens
Contributed by Leona Saunders (MSigDB Team)
Source platform HUMAN_GENE_SYMBOL
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Version history 3.0: First introduced

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