☆ 4.8 Article

The GTEx Consortium atlas of genetic regulatory effects across human tissues

SCIENCE (2020)

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SCIENCE
Volume 369, Issue 6509, Pages 1318-1330

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AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.aaz1776

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Multidisciplinary Sciences

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  1. Common Fund of the Office of the Director, U.S. National Institutes of Health
  2. NCI through NIH (NCI) [HHSN261200800001E]
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  30. NIMH through NIH (Science Care Inc.) [10X172]
  31. NIA through NIH (Science Care Inc.) [10X172]
  32. NIAID through NIH (Science Care Inc.) [10X172]
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  35. NHGRI through NIH (IDOX) [12ST1039]
  36. NHLBI through NIH (IDOX) [12ST1039]
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  38. NIMH through NIH (IDOX) [12ST1039]
  39. NIA through NIH (IDOX) [12ST1039]
  40. NIAID through NIH (IDOX) [12ST1039]
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  42. NCI through NIH (Van Andel Institute) [10ST1035]
  43. NHGRI through NIH (Van Andel Institute) [10ST1035]
  44. NHLBI through NIH (Van Andel Institute) [10ST1035]
  45. NIDA through NIH (Van Andel Institute) [10ST1035]
  46. NIMH through NIH (Van Andel Institute) [10ST1035]
  47. NIA through NIH (Van Andel Institute) [10ST1035]
  48. NIAID through NIH (Van Andel Institute) [10ST1035]
  49. NINDS through NIH (Van Andel Institute) [10ST1035]
  50. NCI through NIH (Broad Institute) [HHSN268201000029C]
  51. NHGRI through NIH (Broad Institute) [HHSN268201000029C]
  52. NHLBI through NIH (Broad Institute) [HHSN268201000029C]
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  54. NIMH through NIH (Broad Institute) [HHSN268201000029C]
  55. NIA through NIH (Broad Institute) [HHSN268201000029C]
  56. NIAID through NIH (Broad Institute) [HHSN268201000029C]
  57. NINDS through NIH (Broad Institute) [HHSN268201000029C]
  58. NCI through NIH [5U41HG009494, DA006227, R01MH101814, U01HG007593, R01MH101822, U01HG007598, U01MH104393, H002371, 5U41HG002371, R01MH106842, R01HL142028, R01GM122924, R01MH107666, P30DK020595, UM1HG008901, R01GM124486, R01HG010067, R01HG002585]
  59. NHGRI through NIH [5U41HG009494, DA006227, R01MH101814, U01HG007593, R01MH101822, U01HG007598, U01MH104393, H002371, 5U41HG002371, R01MH106842, R01HL142028, R01GM122924, R01MH107666, P30DK020595, UM1HG008901, R01GM124486, R01HG010067, R01HG002585]
  60. NHLBI through NIH [5U41HG009494, DA006227, R01MH101814, U01HG007593, R01MH101822, U01HG007598, U01MH104393, H002371, 5U41HG002371, R01MH106842, R01HL142028, R01GM122924, R01MH107666, P30DK020595, UM1HG008901, R01GM124486, R01HG010067, R01HG002585]
  61. NIDA through NIH [5U41HG009494, DA006227, R01MH101814, U01HG007593, R01MH101822, U01HG007598, U01MH104393, H002371, 5U41HG002371, R01MH106842, R01HL142028, R01GM122924, R01MH107666, P30DK020595, UM1HG008901, R01GM124486, R01HG010067, R01HG002585]
  62. NIMH through NIH [5U41HG009494, DA006227, R01MH101814, U01HG007593, R01MH101822, U01HG007598, U01MH104393, H002371, 5U41HG002371, R01MH106842, R01HL142028, R01GM122924, R01MH107666, P30DK020595, UM1HG008901, R01GM124486, R01HG010067, R01HG002585]
  63. NIA through NIH [5U41HG009494, DA006227, R01MH101814, U01HG007593, R01MH101822, U01HG007598, U01MH104393, H002371, 5U41HG002371, R01MH106842, R01HL142028, R01GM122924, R01MH107666, P30DK020595, UM1HG008901, R01GM124486, R01HG010067, R01HG002585]
  64. NIAID through NIH [5U41HG009494, DA006227, R01MH101814, U01HG007593, R01MH101822, U01HG007598, U01MH104393, H002371, 5U41HG002371, R01MH106842, R01HL142028, R01GM122924, R01MH107666, P30DK020595, UM1HG008901, R01GM124486, R01HG010067, R01HG002585]
  65. NINDS through NIH [5U41HG009494, DA006227, R01MH101814, U01HG007593, R01MH101822, U01HG007598, U01MH104393, H002371, 5U41HG002371, R01MH106842, R01HL142028, R01GM122924, R01MH107666, P30DK020595, UM1HG008901, R01GM124486, R01HG010067, R01HG002585]
  66. NCI through NIH (University of Miami Brain Bank) [R01 DA006227-17]
  67. NHGRI through NIH (University of Miami Brain Bank) [R01 DA006227-17]
  68. NHLBI through NIH (University of Miami Brain Bank) [R01 DA006227-17]
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  80. NIAID through NIH (University of Geneva) [R01 MH090941]
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  84. NHLBI through NIH (University of Chicago) [R01 MH090951, R01 MH090937]
  85. NIDA through NIH (University of Chicago) [R01 MH090951, R01 MH090937]
  86. NIMH through NIH (University of Chicago) [R01 MH090951, R01 MH090937]
  87. NIA through NIH (University of Chicago) [R01 MH090951, R01 MH090937]
  88. NIAID through NIH (University of Chicago) [R01 MH090951, R01 MH090937]
  89. NINDS through NIH (University of Chicago) [R01 MH090951, R01 MH090937]
  90. NCI through NIH (University of North CarolinaChapel Hill) [R01 MH090936]
  91. NHGRI through NIH (University of North CarolinaChapel Hill) [R01 MH090936]
  92. NHLBI through NIH (University of North CarolinaChapel Hill) [R01 MH090936]
  93. NIDA through NIH (University of North CarolinaChapel Hill) [R01 MH090936]
  94. NIMH through NIH (University of North CarolinaChapel Hill) [R01 MH090936]
  95. NIA through NIH (University of North CarolinaChapel Hill) [R01 MH090936]
  96. NIAID through NIH (University of North CarolinaChapel Hill) [R01 MH090936]
  97. NINDS through NIH (University of North CarolinaChapel Hill) [R01 MH090936]
  98. Gordon and Betty Moore Foundation [GBMF 4559]
  99. Ministerio de Economia y Competitividad
  100. FEDER funds
  101. Caixa Foundation [100010434, LCF/BQ/SO15/52260001]
  102. NIH CTSA grant [UL1TR002550-01]
  103. Marie-Sklodowska Curie fellowship H2020 Grant [706636]
  104. Ministerio de Educacion, Cultura y Deporte [FPU15/03635]
  105. Searle Scholar Program
  106. NHGRI Institutional Training Grant in Genome Science [5T32HG000044-22]
  107. EU IMI program [UE7-DIRECT-115317-1]
  108. FNS [31003A_149984]
  109. Massachusetts Lions Eye Research Fund Grant
  110. Wellcome grant [WT108749/Z/15/Z]
  111. European Molecular Biology Laboratory
  112. [1K99HG009916-01]
  113. [R01HG006855]
  114. [BIO2015-70777-P]
  115. [R35HG010718]
  116. [R01MH109905]
  117. [1R01HG010480]
  118. [R01HG008150]
  119. [DK110919]
  120. [F32HG009987]
  121. Swiss National Science Foundation (SNF) [31003A_149984] Funding Source: Swiss National Science Foundation (SNF)
  122. Marie Curie Actions (MSCA) [706636] Funding Source: Marie Curie Actions (MSCA)

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The Genotype-Tissue Expression (GTEx) project was established to characterize genetic effects on the transcriptome across human tissues and to link these regulatory mechanisms to trait and disease associations. Here, we present analyses of the version 8 data, examining 15,201 RNA-sequencing samples from 49 tissues of 838 postmortem donors. We comprehensively characterize genetic associations for gene expression and splicing in cis and trans, showing that regulatory associations are found for almost all genes, and describe the underlying molecular mechanisms and their contribution to allelic heterogeneity and pleiotropy of complex traits. Leveraging the large diversity of tissues, we provide insights into the tissue specificity of genetic effects and show that cell type composition is a key factor in understanding gene regulatory mechanisms in human tissues.

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