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Jackson, V.E.* ; Latourelle, J.C.* ; Wain, L.V.* ; Smith, A.V.* ; Grove, M.L.* ; Bartz, T.M.* ; Obeidat, M.* ; Altmaier, E. ; Marten, J.* ; Harris, S.E.* ; Rawal, R. ; Karrasch, S. ; Huffmann, J.E.* ; Smith, B.H.* ; Schulz, H. ; Polasek, O.* ; Campbell, A.* ; Strauch, K. ; Morrison, A.C.* ; Hall, I.P.* ; Tobin, M.D* ; London, S.J.*

Meta-analysis of exome array data identifies six novel genetic loci for lung function.

Wellcome Open Res. 3:4 (2018)
Publ. Version/Full Text DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
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.
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Publication type Article: Journal article
Document type Scientific Article
Corresponding Author
Keywords Lung function, respiratory, exome array, GWAS, COPD
ISSN (print) / ISBN 2398-502X
e-ISSN 2398-502X
Journal Wellcome open research
Quellenangaben Volume: 3, Issue: , Pages: , Article Number: 4 Supplement: ,
Publisher Wellcome Trust
Publishing Place London
Non-patent literature Publications
Reviewing status Peer reviewed
Institute(s) Institute of Epidemiology II (EPI2)
Institute of Genetic Epidemiology (IGE)
Institute of Epidemiology (EPI)