Meta-analysis of exome array data identifies six novel genetic loci for lung function [version 3; referees: 2 approved]

Publication type

Journal Article


  1. Victoria E. Jackson
  2. Jeanne C. Latourelle
  3. Louise V. Wain
  4. Albert V. Smith
  5. Megan L. Grove
  6. Traci M. Bartz
  7. Ma'en Obeidat
  8. Michael A. Province
  9. Wei Gao
  10. Beenish Qaiser
  11. David J. Porteous
  12. Patricia A. Cassano
  13. Tarunveer S. Ahluwalia
  14. Niels Grarup
  15. Jin Li
  16. Elisabeth Altmaier
  17. Jonathan Marten
  18. Sarah E. Harris
  19. Ani Manichaikul
  20. Tess D. Pottinger
  21. Ruifang Li-Gao
  22. Medea Imboden
  23. Alexander Teumer
  24. Bram Prins
  25. Leo-Pekka Lyytikäinen
  26. Gudny Eiriksdottir
  27. Nora Franceschini
  28. Colleen M. Sitlani
  29. Jennifer A. Brody
  30. Yohan Bossé
  31. Wim Timens
  32. Aldi Kraja
  33. Anu Loukola
  34. Wenbo Tang
  35. Yongmei Liu
  36. Jette Bork-Jensen
  37. Johanne M. Justesen
  38. Allan Linneberg
  39. Leslie A. Lange
  40. Rajesh Rawal
  41. Stefan Karrasch
  42. Jennifer E. Huffman
  43. Blair H. Smith
  44. Gail Davies
  45. Kristin M. Burkart
  46. Josyf C. Mychaleckyj
  47. Tobias N. Bonten
  48. Stefan Enroth
  49. Mika Kähönen
  50. Annah B. Wyss
  51. Bruce M. Psaty
  52. Susan R. Heckbert
  53. Ke Hao
  54. Taina Rantanen
  55. Stephen B. Kritchevsky
  56. Kurt Lohman
  57. Tea Skaaby
  58. Charlotta Pisinger
  59. Torben Hansen
  60. Holger Schulz
  61. Ozren Polasek
  62. Archie Campbell
  63. John M. Starr
  64. Stephen Rich
  65. Dennis O. Mook-Kanamori
  66. Åsa Johansson
  67. Erik Ingelsson
  68. André G. Uitterlinden
  69. Stefan Weiss
  70. Olli T. Raitakari
  71. Vilmundur Gudnason
  72. Kari E. North
  73. Sina A. Gharib
  74. Don D. Sin
  75. Kent D. Taylor
  76. George T. O'Connor
  77. Jaakko Kaprio
  78. Tamara B. Harris
  79. Oluf Pederson
  80. Henrik Vestergaard
  81. James G. Wilson
  82. Konstantin Strauch
  83. Caroline Hayward
  84. Shona Kerr
  85. Ian Deary
  86. R. Graham Barr
  87. Renée de Mutsert
  88. Ulf Gyllensten
  89. Andrew P. Morris
  90. M. Arfan Ikram
  91. Nicole Probst-Hensch
  92. Sven Gläser
  93. Eleftheria Zeggini
  94. Terho Lehtimäki
  95. David P. Strachan
  96. Josée Dupuis
  97. Alanna C. Morrison
  98. Ian P. Hall
  99. Martin D. Tobin
  100. Stephanie J. London

Publication date

June 1, 2018


Background: Over 90 regions of the genome have been associated with lung function to date, many of which have also been implicated in chronic obstructive pulmonary disease.
Methods: We carried out meta-analyses of exome array data and three lung function measures: forced expiratory volume in one second (FEV ), forced vital capacity (FVC) and the ratio of FEV to FVC (FEV /FVC). These analyses by
the SpiroMeta and CHARGE consortia included 60,749 individuals of European ancestry from 23 studies, and 7,721 individuals of African Ancestry from 5 studies in the discovery stage, with follow-up in up to 111,556 independent individuals.
Results: We identified significant (P<2·8x10 ) associations with six SNPs: a nonsynonymous variant in RPAP1, which is predicted to be damaging, three intronic SNPs (SEC24C, CASC17 and UQCC1) and two intergenic SNPs near
to LY86 and FGF10. Expression quantitative trait loci analyses found evidence for regulation of gene expression at three signals and implicated several genes, including TYRO3 and PLAU.
Conclusions: Further interrogation of these loci could provide greater understanding of the determinants of lung function and pulmonary disease.

Published in

Wellcome Open Research


Volume: 3:4






Open Access

© 2018 Jackson VE et al.

This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The author(s) is/are employees of the US Government and therefore domestic copyright protection in USA does not apply to this work. The work may be protected under the copyright laws of other jurisdictions when used in those jurisdictions.



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