Meta-analysis of exome array data identifies six novel genetic loci for lung function
By
Victoria E Jackson,
Jeanne C. Latourelle,
Louise V. Wain,
Albert V Smith,
Megan L Grove,
Traci M Bartz,
Maen Obeidat,
Michael A Province,
Wei Gao,
Beenish Qaiser,
David J Porteous,
Patricia A. Cassano,
Tarunveer S. Ahluwalia,
Niels Grarup,
Jin Li,
Elisabeth Altmaier,
Jonathan Marten,
Sarah E. Harris,
Ani Manichaikul,
Tess D. Pottinger,
Ruifang Li-Gao,
Allan Lind-Thomsen,
Anubha Mahajan,
Lies Lahousse,
Medea Imboden,
Alexander Teumer,
Bram Prins,
Leo-Pekka Lyytikäinen,
Gudny Eiriksdottir,
Nora Franceschini,
Colleen M. Sitlani,
Jennifer A. Brody,
Yohan Bosse,
Wim Timens,
Aldi Kraja,
Anu Loukola,
Wenbo Tang,
Yongmei Liu,
Jette Bork-Jensen,
Johanne M. Justesen,
Allan Linneberg,
Leslie A Lange,
Rajesh Rawal,
Stefan Karrasch,
Jennifer E. Huffman,
Blair H Smith,
Gail Davies,
Kristin M. Burkart,
Josyf C Mychaleckyj,
Tobias N. Bonten,
Stefan Enroth,
Lars Lind,
Guy G. Brusselle,
Ashish Kumar,
Beate Stubbe,
Mika Kähönen,
Annah B. Wyss,
Bruce M Psaty,
Susan R. Heckbert,
Ke Hao,
Taina Rantanen,
Stephen B. Kritchevsky,
Kurt Lohman,
Tea Skaaby,
Charlotta Pisinger,
Torben Hansen,
Holger Schulz,
Ozren Polasek,
Archie Campbell,
John M. Starr,
Stephen S Rich,
Dennis O. Mook-Kanamori,
Åsa Johansson,
Erik Ingelsson,
André G. Uitterlinden,
Stefan Weiss,
Olli T. Raitakari,
Vilmundur Gudnason,
Kari E. North,
Sina A Gharib,
Don D. Sin,
Kent D Taylor,
George T. O’Connor,
Jaakko Kaprio,
Tamara B. Harris,
Oluf Pedersen,
Henrik Vestergaard,
James G Wilson,
Konstantin Strauch,
Caroline Hayward,
Shona Kerr,
Ian J Deary,
R. Graham Barr,
Renée de Mutsert,
Ulf Gyllensten,
Andrew P Morris,
Mohammad Arfan Ikram,
Nicole M Probst-Hensch,
Sven Gläser,
Eleftheria Zeggini,
Terho Lehtimäki,
David P Strachan,
Josee Dupuis,
Alanna C. Morrison,
Ian P Hall,
Martin D Tobin,
Stephanie London
Posted 17 Jul 2017
bioRxiv DOI: 10.1101/164426
(published DOI: 10.12688/wellcomeopenres.12583.1)
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 (COPD). We carried out meta-analyses of exome array data and three lung function measures: forced expiratory volume in one second (FEV1), forced vital capacity (FVC) and the ratio of FEV1 to FVC (FEV1/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. We identified significant (P<2.8x10-7) 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. eQTL analyses found evidence for regulation of gene expression at three signals and implicated several genes including TYRO3 and PLAU. Further interrogation of these loci could provide greater understanding of the determinants of lung function and pulmonary disease.
Download data
- Downloaded 474 times
- Download rankings, all-time:
- Site-wide: 52,520
- In genetics: 2,498
- Year to date:
- Site-wide: 84,130
- Since beginning of last month:
- Site-wide: 84,130
Altmetric data
Downloads over time
Distribution of downloads per paper, site-wide
PanLingua
News
- 27 Nov 2020: The website and API now include results pulled from medRxiv as well as bioRxiv.
- 18 Dec 2019: We're pleased to announce PanLingua, a new tool that enables you to search for machine-translated bioRxiv preprints using more than 100 different languages.
- 21 May 2019: PLOS Biology has published a community page about Rxivist.org and its design.
- 10 May 2019: The paper analyzing the Rxivist dataset has been published at eLife.
- 1 Mar 2019: We now have summary statistics about bioRxiv downloads and submissions.
- 8 Feb 2019: Data from Altmetric is now available on the Rxivist details page for every preprint. Look for the "donut" under the download metrics.
- 30 Jan 2019: preLights has featured the Rxivist preprint and written about our findings.
- 22 Jan 2019: Nature just published an article about Rxivist and our data.
- 13 Jan 2019: The Rxivist preprint is live!