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Exploiting the GTEx resources to decipher the mechanisms at GWAS loci.
Barbeira, Alvaro N; Bonazzola, Rodrigo; Gamazon, Eric R; Liang, Yanyu; Park, YoSon; Kim-Hellmuth, Sarah; Wang, Gao; Jiang, Zhuoxun; Zhou, Dan; Hormozdiari, Farhad; Liu, Boxiang; Rao, Abhiram; Hamel, Andrew R; Pividori, Milton D; Aguet, François; Bastarache, Lisa; Jordan, Daniel M; Verbanck, Marie; Do, Ron; Stephens, Matthew; Ardlie, Kristin; McCarthy, Mark; Montgomery, Stephen B; Segrè, Ayellet V; Brown, Christopher D; Lappalainen, Tuuli; Wen, Xiaoquan; Im, Hae Kyung.
Affiliation
  • Barbeira AN; Section of Genetic Medicine, Department of Medicine, The University of Chicago, Chicago, IL, USA.
  • Bonazzola R; Section of Genetic Medicine, Department of Medicine, The University of Chicago, Chicago, IL, USA.
  • Gamazon ER; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Liang Y; Data Science Institute, Vanderbilt University, Nashville, TN, USA.
  • Park Y; Clare Hall, University of Cambridge, Cambridge, UK.
  • Kim-Hellmuth S; MRC Epidemiology Unit, University of Cambridge, Cambridge, UK.
  • Wang G; Section of Genetic Medicine, Department of Medicine, The University of Chicago, Chicago, IL, USA.
  • Jiang Z; Department of Genetics, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.
  • Zhou D; Department of Systems Pharmacology and Translational Therapeutics, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.
  • Hormozdiari F; Statistical Genetics, Max Planck Institute of Psychiatry, Munich, Germany.
  • Liu B; New York Genome Center, New York, NY, USA.
  • Rao A; Department of Systems Biology, Columbia University, New York, NY, USA.
  • Hamel AR; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
  • Pividori MD; Section of Genetic Medicine, Department of Medicine, The University of Chicago, Chicago, IL, USA.
  • Aguet F; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
  • Bastarache L; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
  • Jordan DM; Department of Biology, Stanford University, Stanford, 94305, CA, USA.
  • Verbanck M; Department of Biology, Stanford University, Stanford, 94305, CA, USA.
  • Do R; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Stephens M; Section of Genetic Medicine, Department of Medicine, The University of Chicago, Chicago, IL, USA.
  • Ardlie K; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Montgomery SB; Department of Biomedical Informatics, Department of Medicine, Vanderbilt University, Nashville, TN, USA.
  • Segrè AV; Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University School of Medicine, Nashville, TN, USA.
  • Brown CD; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Lappalainen T; Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Wen X; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
  • Im HK; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Genome Biol ; 22(1): 49, 2021 01 26.
Article in En | MEDLINE | ID: mdl-33499903
The resources generated by the GTEx consortium offer unprecedented opportunities to advance our understanding of the biology of human diseases. Here, we present an in-depth examination of the phenotypic consequences of transcriptome regulation and a blueprint for the functional interpretation of genome-wide association study-discovered loci. Across a broad set of complex traits and diseases, we demonstrate widespread dose-dependent effects of RNA expression and splicing. We develop a data-driven framework to benchmark methods that prioritize causal genes and find no single approach outperforms the combination of multiple approaches. Using colocalization and association approaches that take into account the observed allelic heterogeneity of gene expression, we propose potential target genes for 47% (2519 out of 5385) of the GWAS loci examined.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Gene Expression / Genetic Predisposition to Disease / Genome-Wide Association Study / Genotype Limits: Humans Language: En Journal: Genome Biol Journal subject: BIOLOGIA MOLECULAR / GENETICA Year: 2021 Document type: Article Affiliation country: United States Country of publication: United kingdom
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Gene Expression / Genetic Predisposition to Disease / Genome-Wide Association Study / Genotype Limits: Humans Language: En Journal: Genome Biol Journal subject: BIOLOGIA MOLECULAR / GENETICA Year: 2021 Document type: Article Affiliation country: United States Country of publication: United kingdom