Preprint open access publication

Multiethnic meta-analysis identifies new loci for pulmonary function

bioRxiv, Cold Spring Harbor Laboratory,


DOI:10.1101/196048, Dimensions: pub.1092128915,


Lahousse, Lies (3) (4)
Smith, Albert Vernon (7) (8) (9)
Gao, Wei (11)
Duan, Qing (16)
Scott, Rodney J. (15) (38)
Psaty, Bruce M (2) (44)
Sin, Don D (23) (49)
Dupuis, Josée (11) (25)

* Corresponding author



  1. (1) Epidemiology Branch, National Institute of Environmental Health Sciences, National Institutes of Health, Department of Health and Human Services, Research Triangle Park, North Carolina, USA
  2. (2) University of Washington, grid.34477.33
  3. (3) Erasmus University Medical Center, grid.5645.2
  4. (4) Ghent University Hospital, grid.410566.0
  5. (5) University of Virginia, grid.27755.32
  6. (6) Boston University School of Medicine, grid.475010.7
  7. (7) Icelandic Heart Association, grid.420802.c
  8. (8) University of Iceland, grid.14013.37
  9. (9) University of Michigan, grid.214458.e
  10. (10) Washington University in St. Louis, grid.4367.6
  11. (11) Boston University, grid.189504.1
  12. (12) Steno Diabetes Center, grid.419658.7, Capital Region
  13. (13) University of Copenhagen, grid.5254.6, KU
  14. (14) Cornell University, grid.5386.8
  15. (15) University of Newcastle Australia, grid.266842.c
  16. (16) University of North Carolina at Chapel Hill, grid.10698.36
  17. (17) University Medical Center Groningen, grid.4494.d
  18. (18) Leiden University Medical Center, grid.10419.3d
  19. (19) University of Bristol, grid.5337.2
  20. (20) Federal University of Pelotas, grid.411221.5
  21. (21) University of Leicester, grid.9918.9
  22. (22) Integrative Bioinformatics Support Group, National Institute of Environmental Health Sciences, National Institutes of Health, Department of Health and Human Services, Research Triangle Park, North Carolina, USA
  23. (23) St. Paul's Hospital, grid.416553.0
  24. (24) Brigham and Women's Hospital, grid.62560.37
  25. (25) National Heart Lung and Blood Institute, grid.279885.9
  26. (26) University of California, Los Angeles, grid.19006.3e
  27. (27) Westat (United States), grid.280561.8
  28. (28) University of North Carolina System, grid.410711.2
  29. (29) National Institutes of Health, grid.94365.3d
  30. (30) Northwestern University, grid.16753.36
  31. (31) Columbia University, grid.21729.3f
  32. (32) Wake Forest University, grid.241167.7
  33. (33) University of Mississippi Medical Center, grid.410721.1
  34. (34) Massachusetts General Hospital, grid.32224.35
  35. (35) Harvard University, grid.38142.3c
  36. (36) The University of Texas Health Science Center at Houston, grid.267308.8
  37. (37) Division of Pulmonary Medicine, Allergy, and Immunology, Department of Pediatrics, Children’s Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
  38. (38) Division of Molecular Medicine, Pathology North, NSW Health Pathology, Newcastle, NSW, Australia
  39. (39) University of Southern Denmark, grid.10825.3e, SDU
  40. (40) Harbor–UCLA Medical Center, grid.239844.0
  41. (41) Laval University, grid.23856.3a
  42. (42) Albert Einstein College of Medicine, grid.251993.5
  43. (43) MSD (United States), grid.417993.1
  44. (44) Kaiser Permanente Washington Health Research Institute, grid.488833.c
  45. (45) Seoul National University, grid.31501.36
  46. (46) Kangwon National University, grid.412010.6
  47. (47) University of Colorado Denver, grid.241116.1
  48. (48) University of Minnesota, grid.17635.36
  49. (49) University of British Columbia, grid.17091.3e
  50. (50) Section of Genetic Medicine, The University of Chicago, Chicago, Illinois, USA


Abstract Nearly 100 loci have been identified for pulmonary function, almost exclusively in studies of European ancestry populations. We extend previous research by meta-analyzing genome-wide association studies of 1000 Genomes imputed variants in relation to pulmonary function in a multiethnic population of 90,715 individuals of European (N=60,552), African (N=8,429), Asian (N=9,959), and Hispanic/Latino (N=11,775) ethnicities. We identified over 50 novel loci at genome-wide significance in ancestry-specific and/or multiethnic meta-analyses. Recent fine mapping methods incorporating functional annotation, gene expression, and/or differences in linkage disequilibrium between ethnicities identified potential causal variants and genes at known and newly identified loci. Sixteen of the novel genes encode proteins with predicted or established drug targets, including KCNK2 and CDK12.

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