☆ 4.8 Article

Cell type-specific genetic regulation of gene expression across human tissues

SCIENCE (2020)

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Journal

SCIENCE
Volume 369, Issue 6509, Pages 1332-+

Publisher

AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.aaz8528

Keywords

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Categories

Multidisciplinary Sciences

Funding

  1. Marie-Sklodowska Curie fellowship H2020 grant [706636]
  2. NIH [1K99HG009916-01, R01HG002585, R01 DA006227-17, DA006227, R01 MH090941, R01 MH090951]
  3. Ministerio de Economia y Competitividad [BIO2015-70777-P]
  4. FEDER funds
  5. Ministerio de Educacion, Cultura y Deporte [FPU15/03635]
  6. la Caixa Foundation [100010434, LCF/BQ/SO15/52260001]
  7. EU IMI program [UE7DIRECT-115317-1]
  8. FNS [31003A_149984]
  9. Massachusetts Lions Eye Research Fund Grant
  10. MRC [MR/R023131/1, MR/M004422/1]
  11. Biomedical Big Data Training Grant [5T32LM012424-03]
  12. Wellcome Trust
  13. European Community's Seventh Framework Programme (FP7/2007-2013)
  14. National Institute for Health Research (NIHR)-funded BioResource, Clinical Research Facility and Biomedical Research Centre based at Guy's and St Thomas' NHS Foundation Trust in partnership with King's College London
  15. Common Fund of the Office of the Director, U.S. National Institutes of Health (NIH)
  16. NCI
  17. NHGRI
  18. NHLBI
  19. NIDA
  20. NIMH
  21. NIA
  22. NIAID
  23. NINDS through NIH [HHSN261200800001E, 10XS170, 10XS171, 10X172, 12ST1039, 10ST1035, HHSN268201000029C, 5U41HG009494]
  24. Gordon and Betty Moore Foundation GBMF [4559, R01HG006855]
  25. NIH CTSA grant [UL1TR002550-01, R35HG010718, R01MH109905, 1R01HG010480]
  26. Searle Scholar Program [R01HG008150, 5T32HG000044-22]
  27. NHGRI Institutional Training Grant in Genome Science [F32HG009987]
  28. [R01 MH090937]
  29. [R01 MH090936]
  30. [R01MH101814]
  31. [U01HG007593]
  32. [R01MH101822]
  33. [U01HG007598]
  34. [U01MH104393]
  35. [R01MH106842]
  36. [R01HL142028]
  37. [R01GM122924]
  38. [R01MH107666]
  39. [P30DK020595]
  40. [UM1HG008901]
  41. [R01GM124486]
  42. [R01HG010067]
  43. MRC [MR/M004422/1, MR/R023131/1] Funding Source: UKRI
  44. Swiss National Science Foundation (SNF) [31003A_149984] Funding Source: Swiss National Science Foundation (SNF)
  45. Marie Curie Actions (MSCA) [706636] Funding Source: Marie Curie Actions (MSCA)

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The Genotype-Tissue Expression (GTEx) project has identified expression and splicing quantitative trait loci in cis (QTLs) for the majority of genes across a wide range of human tissues. However, the functional characterization of these QTLs has been limited by the heterogeneous cellular composition of GTEx tissue samples. We mapped interactions between computational estimates of cell type abundance and genotype to identify cell type-interaction QTLs for seven cell types and show that cell type-interaction expression QTLs (eQTLs) provide finer resolution to tissue specificity than bulk tissue cis-eQTLs. Analyses of genetic associations with 87 complex traits show a contribution from cell type-interaction QTLs and enables the discovery of hundreds of previously unidentified colocalized loci that are masked in bulk tissue.

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