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

Repapi, E., Sayers, I., Wain, L. V., Burton, P. R., Johnson, T., Obeidat, M., Zhao, J. H., Ramasamy, A., Evans, David M., Wellcome Trust Case Control Consortium, Brown, Matthew A. and Bradbury, Linda (2009) Genome-wide association study identifies five loci associated with lung function. Nature Genetics, 42 1: 36-45. doi:10.1038/ng.501

Author Repapi, E.
Sayers, I.
Wain, L. V.
Burton, P. R.
Johnson, T.
Obeidat, M.
Zhao, J. H.
Ramasamy, A.
Evans, David M.
Wellcome Trust Case Control Consortium
Brown, Matthew A.
Bradbury, Linda
Title Genome-wide association study identifies five loci associated with lung function
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
Publication date 2009-11-13
Sub-type Article (original research)
DOI 10.1038/ng.501
Volume 42
Issue 1
Start page 36
End page 45
Total pages 10
Editor M. Axton
Place of publication United States
Publisher Nature Publishing Group
Language eng
Subject C1
970106 Expanding Knowledge in the Biological Sciences
970111 Expanding Knowledge in the Medical and Health Sciences
920115 Respiratory System and Diseases (incl. Asthma)
060405 Gene Expression (incl. Microarray and other genome-wide approaches)
Formatted 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.
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status Unknown
Additional Notes Please note that Matthew Brown and Linda Bradbury are members of the Wellcome Trust Case Control Consortium

Document type: Journal Article
Sub-type: Article (original research)
Collections: 2010 Higher Education Research Data Collection
UQ Diamantina Institute Publications
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Citation counts: TR Web of Science Citation Count  Cited 290 times in Thomson Reuters Web of Science Article | Citations
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Created: Thu, 15 Apr 2010, 01:26:09 EST by Kylie Hengst on behalf of UQ Diamantina Institute