Synthesis of 53 tissue and cell line expression QTL datasets reveals master eQTLs View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-12

AUTHORS

Xiaoling Zhang, Hinco J Gierman, Daniel Levy, Andrew Plump, Radu Dobrin, Harald HH Goring, Joanne E Curran, Matthew P Johnson, John Blangero, Stuart K Kim, Christopher J O’Donnell, Valur Emilsson, Andrew D Johnson

ABSTRACT

BACKGROUND: Gene expression genetic studies in human tissues and cells identify cis- and trans-acting expression quantitative trait loci (eQTLs). These eQTLs provide insights into regulatory mechanisms underlying disease risk. However, few studies systematically characterized eQTL results across cell and tissues types. We synthesized eQTL results from >50 datasets, including new primary data from human brain, peripheral plaque and kidney samples, in order to discover features of human eQTLs. RESULTS: We find a substantial number of robust cis-eQTLs and far fewer trans-eQTLs consistent across tissues. Analysis of 45 full human GWAS scans indicates eQTLs are enriched overall, and above nSNPs, among positive statistical signals in genetic mapping studies, and account for a significant fraction of the strongest human trait effects. Expression QTLs are enriched for gene centricity, higher population allele frequencies, in housekeeping genes, and for coincidence with regulatory features, though there is little evidence of 5' or 3' positional bias. Several regulatory categories are not enriched including microRNAs and their predicted binding sites and long, intergenic non-coding RNAs. Among the most tissue-ubiquitous cis-eQTLs, there is enrichment for genes involved in xenobiotic metabolism and mitochondrial function, suggesting these eQTLs may have adaptive origins. Several strong eQTLs (CDK5RAP2, NBPFs) coincide with regions of reported human lineage selection. The intersection of new kidney and plaque eQTLs with related GWAS suggest possible gene prioritization. For example, butyrophilins are now linked to arterial pathogenesis via multiple genetic and expression studies. Expression QTL and GWAS results are made available as a community resource through the NHLBI GRASP database [http://apps.nhlbi.nih.gov/grasp/]. CONCLUSIONS: Expression QTLs inform the interpretation of human trait variability, and may account for a greater fraction of phenotypic variability than protein-coding variants. The synthesis of available tissue eQTL data highlights many strong cis-eQTLs that may have important biologic roles and could serve as positive controls in future studies. Our results indicate some strong tissue-ubiquitous eQTLs may have adaptive origins in humans. Efforts to expand the genetic, splicing and tissue coverage of known eQTLs will provide further insights into human gene regulation. More... »

PAGES

532

References to SciGraph publications

  • 2013-02. Association Analyses Identify Three Susceptibility Loci for Vitiligo in the Chinese Han Population in JOURNAL OF INVESTIGATIVE DERMATOLOGY
  • 2007-10. A genome-wide association study of global gene expression in NATURE GENETICS
  • 2008-12. How many human genes can be defined as housekeeping with current expression data? in BMC GENOMICS
  • 2013-06. The Genotype-Tissue Expression (GTEx) project in NATURE GENETICS
  • 2012-09. The long-range interaction landscape of gene promoters in NATURE
  • 2007-10. Population genomics of human gene expression in NATURE GENETICS
  • 2013-09. Butyrophilin 3A1 binds phosphorylated antigens and stimulates human γδ T cells in NATURE IMMUNOLOGY
  • 2007-12. A survey of genetic human cortical gene expression in NATURE GENETICS
  • 2010-01. Geographical genomics of human leukocyte gene expression variation in southern Morocco in NATURE GENETICS
  • 2010-08. Biological, clinical and population relevance of 95 loci for blood lipids in NATURE
  • 2009-03. New susceptibility locus for coronary artery disease on chromosome 3q22.3 in NATURE GENETICS
  • 2009-12. Complex nature of SNP genotype effects on gene expression in primary human leucocytes in BMC MEDICAL GENOMICS
  • 2012-06. Mechanisms and consequences of widespread random monoallelic expression in NATURE REVIEWS GENETICS
  • 2007-10. Discovery of expression QTLs using large-scale transcriptional profiling in human lymphocytes in NATURE GENETICS
  • 2007-06-07. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls in NATURE
  • 2012-12. Evolution of genetic and genomic features unique to the human lineage in NATURE REVIEWS GENETICS
  • 2011-06. Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes in NATURE GENETICS
  • 2013-02. Genomics of ADME gene expression: mapping expression quantitative trait loci relevant for absorption, distribution, metabolism and excretion of drugs in human liver in THE PHARMACOGENOMICS JOURNAL
  • 2012-01. Dissecting the regulatory architecture of gene expression QTLs in GENOME BIOLOGY
  • 2008-03. Genetics of gene expression and its effect on disease in NATURE
  • 2009-09. Genetics of human gene expression: mapping DNA variants that influence gene expression in NATURE REVIEWS GENETICS
  • 2011-04. From expression QTLs to personalized transcriptomics in NATURE REVIEWS GENETICS
  • 2010-05. New loci associated with kidney function and chronic kidney disease in NATURE GENETICS
  • 2004-09. Bioconductor: open software development for computational biology and bioinformatics in GENOME BIOLOGY
  • 2011-01. DNA methylation patterns associate with genetic and gene expression variation in HapMap cell lines in GENOME BIOLOGY
  • 2011-10. Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk in NATURE
  • 2010-08. Whole-genome association mapping of gene expression in the human prefrontal cortex in MOLECULAR PSYCHIATRY
  • 2011-03-06. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease in NATURE GENETICS
  • 2006-11. In vivo enhancer analysis of human conserved non-coding sequences in NATURE
  • 2010-04. Understanding mechanisms underlying human gene expression variation with RNA sequencing in NATURE
  • 2010-04. Transcriptome genetics using second generation sequencing in a Caucasian population in NATURE
  • 2009-08. Developmental and species-divergent globin switching are driven by BCL11A in NATURE
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/1471-2164-15-532

    DOI

    http://dx.doi.org/10.1186/1471-2164-15-532

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1019881777

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/24973796


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