meta-analysis of exome array data identifies six novel genetic loci for lung function [version 3; referees: 2 approved]
Clicks: 165
ID: 241146
2018
Article Quality & Performance Metrics
Overall Quality
Not rated
Combines reader engagement with the AI quality analysis. This
article has not been analysed, so there is no overall score —
reader engagement is measured and shown alongside.
Reader Engagement
Steady Performance
30.0
/100
165 views
38 readers
AI Quality Assessment
Not analyzed
Readership in this journal
SteadyRanked #18 of 21 articles by views in ethnicity and disease
Most read
Least read
Bar heights use a square-root scale.
Mint this article as an NFT
Not yet mintedCreate a permanent, verifiable on-chain record of this article on the Scimatic Network. The NFT is held in your Journament account, and you can withdraw it to your own wallet at any time.
5
SUSD
one-off · no wallet required
Abstract
Background: 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. Methods: 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. Results: 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. Expression quantitative trait loci analyses found evidence for regulation of gene expression at three signals and implicated several genes, including TYRO3 and PLAU. Conclusions: Further interrogation of these loci could provide greater understanding of the determinants of lung function and pulmonary disease.
Abstract Quality Issue:
This abstract appears to be incomplete or contains metadata (98 words).
Try re-searching for a better abstract.
| Reference Key |
jackson2018wellcomemeta-analysis
Use this key to autocite in the manuscript while using
SciMatic Manuscript Manager or Thesis Manager
|
|---|---|
| Authors | ;Victoria E. Jackson;Jeanne C. Latourelle;Louise V. Wain;Albert V. Smith;Megan L. Grove;Traci M. Bartz;Ma'en 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 Bossé;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;Understanding Society Scientific Group;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 Pederson;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;M. Arfan Ikram;Nicole Probst-Hensch;Sven Gläser;Eleftheria Zeggini;Terho Lehtimäki;David P. Strachan;Josée Dupuis;Alanna C. Morrison;Ian P. Hall;Martin D. Tobin;Stephanie J. London |
| Journal | ethnicity and disease |
| Year | 2018 |
| DOI |
10.12688/wellcomeopenres.12583.3
|
| URL | |
| Keywords |
Citations
No citations found. To add a citation, contact the admin at info@scimatic.org
Comments
No comments yet. Be the first to comment on this article.