Evidence map›Paper›PMID 20010834›Full record

ArticleNature genetics2010

Genome-wide association study identifies five loci associated with lung function.

Emmanouela Repapi, Ian Sayers, Louise V Wain, Paul R Burton, Toby Johnson, Ma'en Obeidat, Jing Hua Zhao, Adaikalavan Ramasamy, Guangju Zhai, Veronique Vitart and 86 more

Open access · bronzeAbstract read
In one paragraph

Article in Nature genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 314 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
314citing papers in PubMed, 6 pooled it
20.4field-weighted citation impact, top 1% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

314 citing papers in PubMed, 6 syntheses or guidelines pooled it, 595 citations in OpenAlex.

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  4. Receptor for advanced glycation end-products and environmental exposure related obstructive airways disease: a systematic review.European respiratory review : an official journal of the European Respiratory Society · 2019
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  16. Genomic Locus Tagged by Lung Function GWAS SNV rs12477314 (2q37.3) Acts as a Regulatory Region for a Systemic Inflammatory Phenotype.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025
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254 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

96 authors at 20 institutions in 8 countries.

Emmanouela RepapiDepartments of Health Sciences and Genetics, Adrian Building, University of Leicester, Leicester, UK.
Ian Sayers
Louise V Wain
Paul R Burton
Toby Johnson
Ma'en Obeidat
Jing Hua Zhao
Adaikalavan Ramasamy
Guangju Zhai
Veronique Vitart
Jennifer E Huffman
Wilmar Igl
Eva Albrecht
Panos Deloukas
John Henderson
Raquel Granell
Wendy L McArdle
Alicja R Rudnicka
Wellcome Trust Case Control Consortium
Inês Barroso
Ruth J F Loos
Nicholas J Wareham
Linda Mustelin
Taina Rantanen
Ida Surakka
Medea Imboden
H Erich Wichmann
Ivica Grkovic
Stipan Jankovic
Lina Zgaga
Anna-Liisa Hartikainen
Leena Peltonen
Ulf Gyllensten
Asa Johansson
Ghazal Zaboli
Harry Campbell
Sarah H Wild
James F Wilson
Sven Gläser
Georg Homuth
Henry Völzke
Massimo Mangino
Nicole Soranzo
Tim D Spector
Ozren Polasek
Igor Rudan
Alan F Wright
Markku Heliövaara
Samuli Ripatti
Anneli Pouta
Asa Torinsson Naluai
Anna-Carin Olin
Kjell Torén
Matthew N Cooper
Alan L James
Lyle J Palmer
Aroon D Hingorani
S Goya Wannamethee
Peter H Whincup
George Davey Smith
Shah Ebrahim
Tricia M McKeever
Ian D Pavord
Andrew K MacLeod
Andrew D Morris
David J Porteous
Cyrus Cooper
Elaine Dennison
Seif Shaheen
Stefan Karrasch
Eva Schnabel
Holger Schulz
Harald Grallert
Nabila Bouatia-Naji
Jérôme Delplanque
Philippe Froguel
John D Blakey
NSHD Respiratory Study Team
John R Britton
Richard W Morris
John W Holloway
Debbie A Lawlor
Jennie Hui
Fredrik Nyberg
Marjo-Riitta Jarvelin
Cathy Jackson
Mika Kähönen
Jaakko Kaprio
Nicole M Probst-Hensch
Beate Koch
Caroline Hayward
David M Evans
Paul Elliott
David P Strachan
Ian P Hall
Martin D Tobin
University of Helsinki · FISt George's, University of London · GBUniversity of Leicester · GBUppsala University · SEHelmholtz Zentrum München · DEKing's College London · GBWestern General Hospital · GBCentre National de la Recherche Scientifique · FRSouthampton General Hospital · GBThe University of Western Australia · AUUniversitätsmedizin Greifswald · DEUniversity of Bristol · GBUniversity of Zagreb · HRWellcome Sanger Institute · GBUniversity of Nottingham · GBFinnish Institute for Health and Welfare · FIMRC Epidemiology Unit · GBNational Health Service · GBNottingham Biomedical Research Centre · GBSwiss Tropical and Public Health Institute · CH

Funding

Type 1 Diabetes Genetics ConsortiumU01DK062418 · NIDDK · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI RICH, STEPHEN S. · 2002 to 2007
$59.8M
Genetics of cardiovascular risk factors in large founder population birth controlR01HL087679 · NHLBI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI HIRSCHHORN, JOEL N · 2007 to 2009
$4.0M
Genetic Influences on ADHD in a Finnish Birth CohortR01MH063706 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI SMALLEY, SUSAN L · 2001 to 2005
$3.3M
Whole Genome Assoc. Analysis Strategies for Multi. PhenotypesRL1MH083268 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI FREIMER, NELSON B. · 2007 to 2011
$2.1M
Biotechnology and Biological Sciences Research CouncilBritish Heart Foundation PG/06/154/22043British Heart Foundation PG/97012British Heart Foundation RG/08/013/25942Cancer Research UKChief Scientist Office CZB/4/710Chief Scientist Office CZD/16/6/2Chief Scientist Office CZD/16/6/4Department of Health 0020029Medical Research Council G0000934Medical Research Council G0000943Medical Research Council G0401540Medical Research Council G0500539Medical Research Council G0501942Medical Research Council G0600331Medical Research Council G0600705Medical Research Council G0600717Medical Research Council G0800582Medical Research Council G0801056Medical Research Council G0902125Medical Research Council G9815508Medical Research Council G990146Medical Research Council MC_U106179471Medical Research Council MC_U106188470Medical Research Council MC_U123092720Medical Research Council MC_U123092721Medical Research Council MC_U127561128Medical Research Council MC_UP_A620_1014Medical Research Council U.1230.00.008.00005.02NHLBI NIH HHS 5R01HL087679-02NHLBI NIH HHS R01 HL087679NIDDK NIH HHS U01 DK062418NIMH NIH HHS 1RL1MH083268-01NIMH NIH HHS 5R01MH63706:02NIMH NIH HHS R01 MH063706NIMH NIH HHS RL1 MH083268Wellcome Trust 068545/Z/02Wellcome Trust 075883Wellcome Trust 076113/B/04/ZWellcome Trust 077016/Z/05/ZWellcome Trust 079895Wellcome Trust 086160/Z/08/A
6 · The paper itself

Abstract

Pulmonary function measures are heritable traits that predict morbidity and mortality and define chronic obstructive pulmonary disease (COPD). We tested genome-wide association with forced expiratory volume in 1 s (FEV(1)) and the ratio of FEV(1) to forced vital capacity (FVC) in the SpiroMeta consortium (n = 20,288 individuals of European ancestry). We conducted a meta-analysis of top signals with data from direct genotyping (n < or = 32,184 additional individuals) and in silico summary association data from the CHARGE Consortium (n = 21,209) and the Health 2000 survey (n < or = 883). We confirmed the reported locus at 4q31 and identified associations with FEV(1) or FEV(1)/FVC and common variants at five additional loci: 2q35 in TNS1 (P = 1.11 x 10(-12)), 4q24 in GSTCD (2.18 x 10(-23)), 5q33 in HTR4 (P = 4.29 x 10(-9)), 6p21 in AGER (P = 3.07 x 10(-15)) and 15q23 in THSD4 (P = 7.24 x 10(-15)). mRNA analyses showed expression of TNS1, GSTCD, AGER, HTR4 and THSD4 in human lung tissue. These associations offer mechanistic insight into pulmonary function regulation and indicate potential targets for interventions to alleviate respiratory disease.

Indexed as

Gene Expression ProfilingFemaleForced Expiratory VolumeGenome, HumanGenome-Wide Association StudyGlutathione TransferaseHumansLungMaleMeta-Analysis as TopicMicrofilament ProteinsPolymorphism, Single NucleotidePulmonary Disease, Chronic ObstructiveReceptor for Advanced Glycation End ProductsReceptors, ImmunologicReceptors, Serotonin, 5-HT4Glutathione TransferaseMicrofilament ProteinsReceptor for Advanced Glycation End ProductsReceptors, ImmunologicReceptors, Serotonin, 5-HT4RNA, MessengerTensinsThrombospondinsTNS1 protein, human

Identifiers

PMID20010834
PMCPMC2862965
OpenAlexW2107766358

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.