Accès ouvert déclaré
2024
review
Meta-analysis of exome array data identifies six novel genetic loci for lung function
David J. Porteous, André G. Uitterlinden, George O'connor, Jonathan Marten, Charlotta Pisinger, K. Strauch, Torben Hansen, C. Hayward, Eleftheria Zeggini, Ozren Polašek, I.J. Deary, Arthur A. Campbell, R. Graham Barr, J. Dupuis, A. Linneberg, U. Gyllensten, Jia Li, Jennifer Burton, Patricia A. Cassano, N M Probst-Hensch, A. Manichaikul, A. Teumer, Dieter Wolke, L.V. Wain, Beenish Qaiser, M. Kähönen, Michaela Benzeval, A.C. Morrison, Peter Lynn, Rajesh Rawal, O.T. Raitakari, J.E. Huffman, Blair H. Smith, Barry Rabe, H. Vestergaard, D.O. Mook-Kanamori, Allan Lind-Thomsen, Medea Imboden, Jeanne C. Latourelle, S. Weiss, C.M. Sitlani, Lars Lind, Vilmundur Guðnason, K.E. North, S.S. Rich, R. Li-Gao, D. P. Strachan, Ian P. Hall, A. Mahajan, E. Ingelsson, Martin D. Tobin, Lies Lahousse, Tess D. Pottinger, Stephen B. Kritchevsky, N. Grarup, K.M. Burkart, Ashis Kumar, W. Tang, Shona M. Kerr, Meena Kumari, T. Lehtimäki, Annah B. Wyss, B.M. Psaty, K. Hao, T. Skaaby, Ma’en Obeidat, Taina Rantanen, Wei Gao, Yohan Bossé, Stephanie J. London, A. Kraja, A. Loukola, Nicholas Buck, L.A. Lange, Victoria E. Jackson, Annette Jäckle, H. Schulz, Dong-Hoon Sin, M.L. Grove, Johanne Marie Justesen, S.R. Heckbert, R. De Mutsert, T.S. Ahluwalia, Wim Timens, M. Arfan Ikram, S.E. Harris, Steve Gläser, Stefan Karrasch, A.P. Morris, Bernard Prins, L.-P. Lyytikäinen, Oluf Pederson, M.A. Province, Beate Stubbe, A.V. Smith, T.M. Bartz, Gareth E. Davies, Guy Brusselle, G. Eiriksdottir, Tobias Bonten, Stephen Pudney, Stefan Enroth, Shamit Saggar, N. Uhrig, Sina A. Gharib, N. Franceschini, K.D. Taylor, Jaakko Kaprio, J.G. Wilson, Kenton L. Lohman, T. B. Harris, Elisabeth Altmaier, Josyf C. Mychaleckyj, J.A. Brody, J.M. Starr, Y. Liu, J. Bork-Jensen, Heather Laurie, Åsa Johansson
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Le résumé fourni par la source
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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