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

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Abstract
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 (FEV 1), forced vital capacity (FVC) and the ratio of FEV 1 to FVC (FEV 1/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.
Keywords
COPD, GWAS, Lung function, exome array, respiratory

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MLA
Jackson, VE et al. “Meta-analysis of Exome Array Data Identifies Six Novel Genetic Loci for Lung Function.” WELLCOME OPEN RESEARCH 3 (2018): n. pag. Print.
APA
Jackson, V., Latourelle, J., Wain, L., Smith, A., Grove, M., Bartz, T., Obeidat, M., et al. (2018). Meta-analysis of exome array data identifies six novel genetic loci for lung function. WELLCOME OPEN RESEARCH, 3.
Chicago author-date
Jackson, VE, JC Latourelle, LV Wain, AV Smith, ML Grove, TM Bartz, M Obeidat, et al. 2018. “Meta-analysis of Exome Array Data Identifies Six Novel Genetic Loci for Lung Function.” Wellcome Open Research 3.
Chicago author-date (all authors)
Jackson, VE, JC Latourelle, LV Wain, AV Smith, ML Grove, TM Bartz, M Obeidat, MA Province, W Gao, B Qaiser, DJ Porteous, PA Cassano, TS Ahluwalia, N Grarup, J Li, E Altmaier, J Marten, SE Harris, A Manichaikul, TD Pottinger, R Li-Gao, A Lind-Thomsen, A Mahajan, Lies Lahousse, M Imboden, A Teumer, B Prins, LP Lyytikäinen, G Eiriksdottir, N Franceschini, CM Sitlani, JA Brody, Y Bossé, W Timens, A Kraja, A Loukola, W Tang, Y Liu, J Bork-Jensen, JM Justesen, A Linneberg, LA Lange, R Rawal, S Karrasch, JE Huffman, BH Smith, G Davies, KM Burkart, JC Mychaleckyj, TN Bonten, S Enroth, L Lind, Guy Brusselle, A Kumar, B Stubbe, the Understanding Society Scientific Group, M Kähönen, AB Wyss, BM Psaty, SR Heckbert, K Hao, T Rantanen, SB Kritchevsky, K Lohman, T Skaaby, C Pisinger, T Hansen, H Schulz, O Polasek, A Campbell, JM Starr, SS Rich, DO Mook-Kanamori, Å Johansson, E Ingelsson, AG Uitterlinden, S Weiss, OT Raitakari, V Gudnason, KE North, SA Gharib, DD Sin, KD Taylor, GT O’Connor, J Kaprio, TB Harris, O Pederson, H Vestergaard, JG Wilson, K Strauch, C Hayward, S Kerr, IJ Deary, RG Barr, R de Mutsert, U Gyllensten, AP Morris, MA Ikram, N Probst-Hensch, S Gläser, E Zeggini, T Lehtimäki, DP Strachan, J Dupuis, AC Morrison, IP Hall, MD Tobin, and SJ London. 2018. “Meta-analysis of Exome Array Data Identifies Six Novel Genetic Loci for Lung Function.” Wellcome Open Research 3.
Vancouver
1.
Jackson V, Latourelle J, Wain L, Smith A, Grove M, Bartz T, et al. Meta-analysis of exome array data identifies six novel genetic loci for lung function. WELLCOME OPEN RESEARCH. 2018;3.
IEEE
[1]
V. Jackson et al., “Meta-analysis of exome array data identifies six novel genetic loci for lung function,” WELLCOME OPEN RESEARCH, vol. 3, 2018.
@article{8604701,
  abstract     = {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 (FEV 1), forced vital capacity (FVC) and the ratio of FEV 1 to FVC (FEV 1/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.},
  articleno    = {4},
  author       = {Jackson, VE and Latourelle, JC and Wain, LV and Smith, AV and Grove, ML and Bartz, TM and Obeidat, M and Province, MA and Gao, W and Qaiser, B and Porteous, DJ and Cassano, PA and Ahluwalia, TS and Grarup, N and Li, J and Altmaier, E and Marten, J and Harris, SE and Manichaikul, A and Pottinger, TD and Li-Gao, R and Lind-Thomsen, A and Mahajan, A and Lahousse, Lies and Imboden, M and Teumer, A and Prins, B and Lyytikäinen, LP and Eiriksdottir, G and Franceschini, N and Sitlani, CM and Brody, JA and Bossé, Y and Timens, W and Kraja, A and Loukola, A and Tang, W and Liu, Y and Bork-Jensen, J and Justesen, JM and Linneberg, A and Lange, LA and Rawal, R and Karrasch, S and Huffman, JE and Smith, BH and Davies, G and Burkart, KM and Mychaleckyj, JC and Bonten, TN and Enroth, S and Lind, L and Brusselle, Guy and Kumar, A and Stubbe, B and Understanding Society Scientific Group, the and Kähönen, M and Wyss, AB and Psaty, BM and Heckbert, SR and Hao, K and Rantanen, T and Kritchevsky, SB and Lohman, K and Skaaby, T and Pisinger, C and Hansen, T and Schulz, H and Polasek, O and Campbell, A and Starr, JM and Rich, SS and Mook-Kanamori, DO and Johansson, Å and Ingelsson, E and Uitterlinden, AG and Weiss, S and Raitakari, OT and Gudnason, V and North, KE and Gharib, SA and Sin, DD and Taylor, KD and O'Connor, GT and Kaprio, J and Harris, TB and Pederson, O and Vestergaard, H and Wilson, JG and Strauch, K and Hayward, C and Kerr, S and Deary, IJ and Barr, RG and de Mutsert, R and Gyllensten, U and Morris, AP and Ikram, MA and Probst-Hensch, N and Gläser, S and Zeggini, E and Lehtimäki, T and Strachan, DP and Dupuis, J and Morrison, AC and Hall, IP and Tobin, MD and London, SJ},
  issn         = {2398-502x},
  journal      = {WELLCOME OPEN RESEARCH},
  keywords     = {COPD,GWAS,Lung function,exome array,respiratory},
  language     = {eng},
  pages        = {20},
  title        = {Meta-analysis of exome array data identifies six novel genetic loci for lung function},
  url          = {http://dx.doi.org/10.12688/wellcomeopenres.12583.3},
  volume       = {3},
  year         = {2018},
}

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