Please use this identifier to cite or link to this item:
Scopus Web of Science® Altmetric
Type: Journal article
Title: Genome-wide association study identifies five loci associated with lung function
Author: Repapi, E.
Sayers, I.
Wain, L.
Burton, P.
Johnson, T.
Obeidat, M.
Zhao J-, H.
Ramasamy, A.
Zhai, G.
Vitart, V.
Huffman, J.
Igl, W.
Albrecht, E.
Deloukas, P.
Henderson, J.
Granell, R.
McArdle, W.
Rudnicka, A.
Wellcome Trust Case Control Consortium
Barroso, I.
et al.
Citation: Nature Genetics, 2010; 42(1):36-44
Publisher: Nature Publishing Group
Issue Date: 2010
ISSN: 1061-4036
Statement of
Emmanouela Repapi ... Wellcome Trust Case Control Consortium ... Lyle J Palmer ... The NSHD Respiratory Study Team ... et al.
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 (FEV1) and the ratio of FEV1 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 ≤ 32,184 additional individuals) and in silico summary association data from the CHARGE Consortium (n = 21,209) and the Health 2000 survey (n ≤ 883). We confirmed the reported locus at 4q31 and identified associations with FEV1 or FEV1/FVC and common variants at five additional loci: 2q35 in TNS1 (P = 1.11 × 10−12), 4q24 in GSTCD (2.18 × 10−23), 5q33 in HTR4 (P = 4.29 × 10−9), 6p21 in AGER (P = 3.07 × 10−15) and 15q23 in THSD4 (P = 7.24 × 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.
Keywords: Wellcome Trust Case Control Consortium
NSHD Respiratory Study Team
Pulmonary Disease, Chronic Obstructive
Microfilament Proteins
Glutathione Transferase
Receptors, Serotonin, 5-HT4
Receptors, Immunologic
RNA, Messenger
Respiratory Function Tests
Vital Capacity
Forced Expiratory Volume
Gene Expression Profiling
Polymorphism, Single Nucleotide
Genome, Human
Meta-Analysis as Topic
Genome-Wide Association Study
Receptor for Advanced Glycation End Products
Rights: © 2010 Nature America, Inc. All rights reserved.
DOI: 10.1038/ng.501
Appears in Collections:Aurora harvest 7
Translational Health Science publications

Files in This Item:
There are no files associated with this item.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.