Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/88794
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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
1546-1718
Statement of
Responsibility: 
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; Lung; Humans; Pulmonary Disease, Chronic Obstructive; Microfilament Proteins; Glutathione Transferase; Thrombospondins; Receptors, Serotonin, 5-HT4; Receptors, Immunologic; RNA, Messenger; Respiratory Function Tests; Vital Capacity; Forced Expiratory Volume; Spirometry; Gene Expression Profiling; Polymorphism, Single Nucleotide; Genome, Human; Female; Male; Meta-Analysis as Topic; Genome-Wide Association Study; Tensins; Receptor for Advanced Glycation End Products
Rights: © 2010 Nature America, Inc. All rights reserved.
RMID: 0020136643
DOI: 10.1038/ng.501
Appears in Collections:Translational Health Science publications

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