Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

Nat Commun. 2015 Dec 4;6:8658. doi: 10.1038/ncomms9658.

Abstract

Lung function measures are used in the diagnosis of chronic obstructive pulmonary disease. In 38,199 European ancestry individuals, we studied genome-wide association of forced expiratory volume in 1 s (FEV1), forced vital capacity (FVC) and FEV1/FVC with 1000 Genomes Project (phase 1)-imputed genotypes and followed up top associations in 54,550 Europeans. We identify 14 novel loci (P<5 × 10(-8)) in or near ENSA, RNU5F-1, KCNS3, AK097794, ASTN2, LHX3, CCDC91, TBX3, TRIP11, RIN3, TEKT5, LTBP4, MN1 and AP1S2, and two novel signals at known loci NPNT and GPR126, providing a basis for new understanding of the genetic determinants of these traits and pulmonary diseases in which they are altered.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • European Continental Ancestry Group / genetics
  • Female
  • Forced Expiratory Volume
  • Genome-Wide Association Study*
  • Humans
  • Lung / physiopathology*
  • Lung Diseases / genetics*
  • Lung Diseases / physiopathology
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Young Adult

Grant support