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

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

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.

Adult, Aged, Aged, 80 and over, Female, Forced Expiratory Volume, Genome-Wide Association Study, Humans, Lung/physiopathology, Lung Diseases/genetics, Male, Middle Aged, Polymorphism, Single Nucleotide, White People/genetics, Young Adult
2041-1723
Soler Artigas, María
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Wain, Louise V
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Miller, Suzanne
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Kheirallah, Abdul Kader
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Huffman, Jennifer E
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Ntalla, Ioanna
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Shrine, Nick
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Obeidat, Ma'en
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Trochet, Holly
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McArdle, Wendy L
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Alves, Alexessander Couto
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Hui, Jennie
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Zhao, Jing Hua
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Joshi, Peter K
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Teumer, Alexander
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Albrecht, Eva
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Imboden, Medea
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Rawal, Rajesh
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Lopez, Lorna M
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Marten, Jonathan
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Enroth, Stefan
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Surakka, Ida
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Polasek, Ozren
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Lyytikäinen, Leo-Pekka
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Granell, Raquel
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Hysi, Pirro G
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Flexeder, Claudia
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Mahajan, Anubha
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Beilby, John
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Bossé, Yohan
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Brandsma, Corry-Anke
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Campbell, Harry
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Gieger, Christian
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Gläser, Sven
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González, Juan R
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Grallert, Harald
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Hammond, Chris J
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Harris, Sarah E
Hartikainen, Anna-Liisa
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Heliövaara, Markku
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Henderson, John
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Hocking, Lynne
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Horikoshi, Momoko
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Hutri-Kähönen, Nina
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Ingelsson, Erik
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Johansson, Åsa
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Kemp, John P
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Kolcic, Ivana
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Evans, David M
Wilson, James F
UK BiLEVE
Soler Artigas, María
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Wain, Louise V
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Miller, Suzanne
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Kheirallah, Abdul Kader
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Huffman, Jennifer E
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Ntalla, Ioanna
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Shrine, Nick
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Obeidat, Ma'en
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Trochet, Holly
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McArdle, Wendy L
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Alves, Alexessander Couto
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Hui, Jennie
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Zhao, Jing Hua
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Joshi, Peter K
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Teumer, Alexander
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Albrecht, Eva
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Imboden, Medea
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Rawal, Rajesh
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Lopez, Lorna M
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Marten, Jonathan
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Enroth, Stefan
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Surakka, Ida
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Polasek, Ozren
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Lyytikäinen, Leo-Pekka
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Granell, Raquel
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Hysi, Pirro G
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Flexeder, Claudia
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Mahajan, Anubha
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Beilby, John
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Bossé, Yohan
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Brandsma, Corry-Anke
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Campbell, Harry
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Gieger, Christian
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Gläser, Sven
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González, Juan R
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Grallert, Harald
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Hammond, Chris J
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Harris, Sarah E
Hartikainen, Anna-Liisa
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Heliövaara, Markku
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Henderson, John
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Hocking, Lynne
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Horikoshi, Momoko
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Hutri-Kähönen, Nina
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Ingelsson, Erik
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Johansson, Åsa
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Kemp, John P
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Kolcic, Ivana
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Evans, David M
Wilson, James F

Hutri-Kähönen, Nina , UK BiLEVE (2015) Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation. Nature Communications, 6, [8658]. (doi:10.1038/ncomms9658).

Record type: Article

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.

This record has no associated files available for download.

More information

Accepted/In Press date: 17 September 2015
e-pub ahead of print date: 4 December 2015
Keywords: Adult, Aged, Aged, 80 and over, Female, Forced Expiratory Volume, Genome-Wide Association Study, Humans, Lung/physiopathology, Lung Diseases/genetics, Male, Middle Aged, Polymorphism, Single Nucleotide, White People/genetics, Young Adult

Identifiers

Local EPrints ID: 507729
URI: http://eprints.soton.ac.uk/id/eprint/507729
DOI: doi:10.1038/ncomms9658
ISSN: 2041-1723
PURE UUID: c0d90b64-345c-453c-a221-abbc54ac9223
ORCID for Alexessander Couto Alves: ORCID iD orcid.org/0000-0001-8519-7356

Catalogue record

Date deposited: 19 Dec 2025 18:20
Last modified: 20 Dec 2025 03:53

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Contributors

Author: María Soler Artigas
Author: Louise V Wain
Author: Suzanne Miller
Author: Abdul Kader Kheirallah
Author: Jennifer E Huffman
Author: Ioanna Ntalla
Author: Nick Shrine
Author: Ma'en Obeidat
Author: Holly Trochet
Author: Wendy L McArdle
Author: Alexessander Couto Alves ORCID iD
Author: Jennie Hui
Author: Jing Hua Zhao
Author: Peter K Joshi
Author: Alexander Teumer
Author: Eva Albrecht
Author: Medea Imboden
Author: Rajesh Rawal
Author: Lorna M Lopez
Author: Jonathan Marten
Author: Stefan Enroth
Author: Ida Surakka
Author: Ozren Polasek
Author: Leo-Pekka Lyytikäinen
Author: Raquel Granell
Author: Pirro G Hysi
Author: Claudia Flexeder
Author: Anubha Mahajan
Author: John Beilby
Author: Yohan Bossé
Author: Corry-Anke Brandsma
Author: Harry Campbell
Author: Christian Gieger
Author: Sven Gläser
Author: Juan R González
Author: Harald Grallert
Author: Chris J Hammond
Author: Sarah E Harris
Author: Anna-Liisa Hartikainen
Author: Markku Heliövaara
Author: John Henderson
Author: Lynne Hocking
Author: Momoko Horikoshi
Author: Nina Hutri-Kähönen
Author: Erik Ingelsson
Author: Åsa Johansson
Author: John P Kemp
Author: Ivana Kolcic
Author: David M Evans
Author: James F Wilson
Corporate Author: UK BiLEVE

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