The Genotype-Tissue Expression (GTEx) project

Journal name:
Nature Genetics
Volume:
45,
Pages:
580–585
Year published:
DOI:
doi:10.1038/ng.2653
Published online

Abstract

Genome-wide association studies have identified thousands of loci for common diseases, but, for the majority of these, the mechanisms underlying disease susceptibility remain unknown. Most associated variants are not correlated with protein-coding changes, suggesting that polymorphisms in regulatory regions probably contribute to many disease phenotypes. Here we describe the Genotype-Tissue Expression (GTEx) project, which will establish a resource database and associated tissue bank for the scientific community to study the relationship between genetic variation and gene expression in human tissues.

References

  1. Altshuler, D., Daly, M.J. & Lander, E.S. Science 322, 881888 (2008).
  2. Hindorff, L.A. et al. Proc. Natl. Acad. Sci. USA 106, 93629367 (2009).
  3. Gilad, Y., Rifkin, S.A. & Pritchard, J.K. Trends Genet. 24, 408415 (2008).
  4. Emilsson, V. et al. Nature 452, 423428 (2008).
  5. Schadt, E.E. et al. PLoS Biol. 6, e107 (2008).
  6. Stranger, B.E. et al. Nat. Genet. 39, 12171224 (2007).
  7. Pickrell, J.K. et al. Nature 464, 768772 (2010).
  8. Pickrell, J.K., Pai, A.A., Gilad, Y. & Pritchard, J.K. PLoS Genet. 6, e1001236 (2010).
  9. Borel, C. et al. Genome Res. 21, 6873 (2011).
  10. Petretto, E. et al. PLoS Comput. Biol. 6, e1000737 (2010).
  11. Grundberg, E. et al. Nat. Genet. 44, 10841089 (2012).
  12. Zhong, H. et al. PLoS Genet. 6, e1000932 (2010).
  13. Zhao, E. et al. Mamm. Genome 20, 476485 (2009).
  14. Bernstein, B.E. et al. Nat. Biotechnol. 28, 10451048 (2010).
  15. ENCODE Project Consortium. Nature 489, 5774 (2012).
  16. Craig, D.W. et al. Nat. Rev. Genet. 12, 730736 (2011).
  17. Schadt, E.E., Woo, S. & Hao, K. Nat. Genet. 44, 603608 (2012).
  18. Jacobs, K.B. et al. Nat. Genet. 41, 12531257 (2009).

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Author information

Affiliations

  1. National Disease Research Interchange, Philadelphia, Pennsylvania, USA.

    • John Lonsdale,
    • Jeffrey Thomas,
    • Mike Salvatore,
    • Rebecca Phillips,
    • Edmund Lo &
    • Saboor Shad
  2. Gift of Life Donor Program, Philadelphia, Pennsylvania, USA.

    • Richard Hasz
  3. LifeNet Health, Virginia Beach, Virginia, USA.

    • Gary Walters
  4. Drexel University College of Medicine, Philadelphia, Pennsylvania, USA.

    • Fernando Garcia
  5. Albert Einstein Medical Center, Philadelphia, Pennsylvania, USA.

    • Nancy Young
  6. Roswell Park Cancer Institute, Buffalo, New York, USA.

    • Barbara Foster,
    • Mike Moser,
    • Ellen Karasik,
    • Bryan Gillard &
    • Kimberley Ramsey
  7. Upstate New York Transplant Service, Buffalo, New York, USA.

    • Susan Sullivan &
    • Jason Bridge
  8. Science Care, Inc., Phoenix, Arizona, USA.

    • Harold Magazine,
    • John Syron &
    • Johnelle Fleming
  9. Virginia Commonwealth University, Richmond, Virginia, USA.

    • Laura Siminoff,
    • Heather Traino,
    • Maghboeba Mosavel &
    • Laura Barker
  10. Van Andel Institute, Grand Rapids, Michigan, USA.

    • Scott Jewell,
    • Dan Rohrer,
    • Dan Maxim,
    • Dana Filkins,
    • Philip Harbach,
    • Eddie Cortadillo,
    • Bree Berghuis,
    • Lisa Turner,
    • Eric Hudson &
    • Kristin Feenstra
  11. SAIC-Frederick, Inc., Frederick, Maryland, USA.

    • Leslie Sobin,
    • James Robb,
    • Greg Korzeniewski,
    • Charles Shive,
    • David Tabor,
    • Liqun Qi,
    • Kevin Groch,
    • Sreenath Nampally,
    • Steve Buia,
    • Angela Zimmerman,
    • Anna Smith,
    • Robin Burges,
    • Karna Robinson,
    • Kim Valentino,
    • Deborah Bradbury,
    • Mark Cosentino,
    • Norma Diaz-Mayoral,
    • Mary Kennedy,
    • Theresa Engel &
    • Penelope Williams
  12. Sapient Government Services, Arlington, Virginia, USA.

    • Phillip Branton &
    • Kenyon Erickson
  13. The Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA.

    • Kristin Ardlie,
    • Wendy Winckler,
    • Gad Getz,
    • David DeLuca,
    • Daniel MacArthur,
    • Manolis Kellis,
    • Alexander Thomson,
    • Taylor Young,
    • Ellen Gelfand,
    • Molly Donovan,
    • Yan Meng &
    • George Grant
  14. Massachusetts General Hospital Cancer Center, Boston, Massachusetts, USA.

    • Gad Getz &
    • Daniel MacArthur
  15. Massachusetts Institute of Technology, Cambridge, Massachusetts, USA.

    • Manolis Kellis
  16. University of Miami School of Medicine, Miami, Florida, USA.

    • Deborah Mash,
    • Yvonne Marcus &
    • Margaret Basile
  17. Harvard University, Boston, Massachusetts, USA.

    • Jun Liu
  18. Mount Sinai School of Medicine, New York, New York, USA.

    • Jun Zhu &
    • Zhidong Tu
  19. University of Chicago, Chicago, Illinois, USA.

    • Nancy J Cox,
    • Dan L Nicolae,
    • Eric R Gamazon,
    • Hae Kyung Im,
    • Anuar Konkashbaev,
    • Jonathan Pritchard,
    • Matthew Stevens,
    • Timothèe Flutre &
    • Xiaoquan Wen
  20. Howard Hughes Medical Institute, Chicago, Illinois, USA.

    • Jonathan Pritchard
  21. University of Geneva, Geneva, Switzerland.

    • Emmanouil T Dermitzakis &
    • Tuuli Lappalainen
  22. Center for Genomic Regulation, Barcelona, Spain.

    • Roderic Guigo,
    • Jean Monlong &
    • Michael Sammeth
  23. Stanford University, Palo Alto, California, USA.

    • Daphne Koller,
    • Alexis Battle &
    • Sara Mostafavi
  24. Oxford University, Oxford, UK.

    • Mark McCarthy,
    • Manual Rivas &
    • Julian Maller
  25. University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

    • Ivan Rusyn,
    • Andrew Nobel,
    • Fred Wright &
    • Andrey Shabalin
  26. National Center for Biotechnology Information, National Library of Medicine, US National Institutes of Health, Bethesda, Maryland, USA.

    • Mike Feolo,
    • Nataliya Sharopova,
    • Anne Sturcke,
    • Justin Paschal,
    • James M Anderson &
    • Elizabeth L Wilder
  27. Division of Program Coordination, Planning and Strategic Initiatives, Office of Strategic Coordination (Common Fund), Office of the Director, US National Institutes of Health, Bethesda, Maryland, USA.

    • Leslie K Derr
  28. National Human Genome Research Institute, Bethesda, Maryland, USA.

    • Eric D Green,
    • Jeffery P Struewing,
    • Gary Temple,
    • Simona Volpi,
    • Joy T Boyer,
    • Elizabeth J Thomson,
    • Mark S Guyer,
    • Cathy Ng,
    • Assya Abdallah &
    • Deborah Colantuoni
  29. National Institute of Mental Health, Bethesda, Maryland, USA.

    • Thomas R Insel,
    • Susan E Koester,
    • A Roger Little,
    • Patrick K Bender,
    • Thomas Lehner &
    • Yin Yao
  30. US National Cancer Institute, Bethesda, Maryland, USA.

    • Carolyn C Compton,
    • Jimmie B Vaught,
    • Sherilyn Sawyer,
    • Nicole C Lockhart,
    • Joanne Demchok &
    • Helen F Moore

Contributions

Biospecimen and data collection, processing, quality control, storage and pathological review. caHUB-BSS: J. Lonsdale, J.T., M. Salvatore, R.P., E.L., S. Shad, R.H., G.W., F.G., N.Y., B.F., M. Moser, E.K., B.G., K. Ramsey, S. Sullivan, J.B., H.M., J.S. and J.F. caHUB-ELSI study: L. Siminoff, H.T., M. Mosavel and L.B. caHUB-CBR: S.J., D.R., D. Maxim, D.F., P.H., E.C., B.B., L.T., E.H. and K.F. caHUB-PRC: L. Sobin, J.R. and P.B. caHUB-CDR: G.K., C.S., D.T., L.Q., K.G. and S.N. caHUB–Operations Management: S.B., A.Z., A. Smith, R.B., K. Robinson, K.V., D.B., M.C., N.D.-M., M. Kennedy, T.E., P.W. and K.E. Laboratory analysis, data analysis and study coordination. K.A., W.W., G. Getz, D.D., D. MacArthur, M. Kellis, A.T., T.Y., E. Gelfand, M.D., Y. Meng and G. Grant. Brain bank operations. D. Mash, Y. Marcus and M.B. Statistical methods development and data analysis. J. Liu, J.Z., Z.T., E.T.D., T. Lappalainen, R.G., J. Monlong, M. Sammeth, D.K., A.B., S.M., M. McCarthy, M.R., J. Maller, I.R., A.N., F.W., A. Shabalin, N.J.C., D.L.N., E.R.G., H.K.I., A.K., J. Pritchard, M. Stevens, T.F. and X.W. Database. M.F., N.S., A. Sturcke and J. Paschal. Program management. J.M.A., E.L.W., L.K.D., E.D.G., J.P.S., G.T., S.V., J.T.B., E.J.T., M.S.G., C.N., A.A., D.C., T.R.I., S.E.K., A.R.L., P.K.B., T. Lehner, Y.Y., C.C.C., J.B.V., S. Sawyer, N.C.L., J.D. and H.F.M.

Competing financial interests

The authors declare no competing financial interests.

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Supplementary information

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    Supplementary Figures 1–5, Supplementary Table 1 and Supplementary Note

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