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

Lookup NU author(s): Dr Ana ViñuelaORCiD



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


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 metadata

Author(s): Artigas MS, Wain LV, Miller S, Kheirallah AK, Huffman JE, Ntalla I, Shrine N, Obeidat M, Trochet H, McArdle WL, Alves AC, Hui J, Zhao JH, Joshi PK, Teumer A, Albrecht E, Imboden M, Rawal R, Lopez LM, Marten J, Enroth S, Surakka I, Polasek O, Lyytikainen L-P, Granell R, Hysi PG, Flexeder C, Mahajan A, Beilby J, Bosse Y, Brandsma C-A, Campbell H, Gieger C, Glaser S, Gonzalez JR, Grallert H, Hammond CJ, Harris SE, Hartikainen A-L, Heliovaara M, Henderson J, Hocking L, Horikoshi M, Hutri-Kahonen N, Ingelsson E, Johansson A, Kemp JP, Kolcic I, Kumar A, Lind L, Melen E, Musk AW, Navarro P, Nickle DC, Padmanabhan S, Raitakari OT, Ried JS, Ripatti S, Schulz H, Scott RA, Sin DD, Starr JM, Vinuela A, Volzke H, Wild SH, Wright AF, Zemunik T, Jarvis DL, Spector TD, Evans DM, Lehtimaki T, Vitart V, Kahonen M, Gyllensten U, Rudan I, Deary IJ, Karrasch S, Probst-Hensch NM, Heinrich J, Stubbe B, Wilson JF, Wareham NJ, James AL, Morris AP, Jarvelin M-R, Hayward C, Sayers I, Strachan DP, Hall IP, Tobin MD, Deloukas P, Hansell AL, Hubbard R, Jackson VE, Marchini J, Pavord I, Thomson NC, Zeggini E

Publication type: Article

Publication status: Published

Journal: Nature Communications

Year: 2015

Volume: 6

Online publication date: 04/12/2015

Acceptance date: 17/09/2015

Date deposited: 29/06/2020

ISSN (electronic): 2041-1723

Publisher: Nature Research


DOI: 10.1038/ncomms9658

PubMed id: 26635082


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