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Nature Research (part of Springer Nature), Nature Communications, (6), p. 8658

DOI: 10.1038/ncomms9658



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

Journal article published in 2015 by María Soler Artigas, Louise V. Wain ORCID, Suzanne Miller, Abdul Kader Kheirallah, Jennifer E. Huffman, Ioanna Ntalla, Nick Shrine, Ma’en Obeidat, Holly Trochet, Wendy L. McArdle, Alexessander Couto Alves, Jennie Hui, Jing Hua Zhao, Peter K. Joshi, Alexander Teumer and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Data provided by SHERPA/RoMEO


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.