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

Jackson, Victoria E. and Latourelle, Jeanne C. and Wain, Louise V. and Smith, Albert V. and Grove, Megan L. and Bartz, Traci M. and Obeidat, Ma'en and Province, Michael A. and Gao, Wei and Qaiser, Beenish and Porteous, David J. and Cassano, Patricia A. and Ahluwalia, Tarunveer S. and Grarup, Niels and Li, Jin and Altmaier, Elisabeth and Marten, Jonathan and Harris, Sarah E. and Manichaikul, Ani and Pottinger, Tess D. and Li-Gao, Ruifang and Lind-Thomsen, Allan and Mahajan, Anubha and Lahousse, Lies and Imboden, Medea and Teumer, Alexander and Prins, Bram and Lyytikäinen, Leo-Pekka and Eiriksdottir, Gudny and Franceschini, Nora and Sitlani, Colleen M. and Brody, Jennifer A. and Bossé, Yohan and Timens, Wim and Kraja, Aldi and Loukola, Anu and Tang, Wenbo and Liu, Yongmei and Bork-Jensen, Jette and Justesen, Johanne M. and Linneberg, Allan and Lange, Leslie A. and Rawal, Rajesh and Karrasch, Stefan and Huffman, Jennifer E. and Smith, Blair H. and Davies, Gail and Burkart, Kristin M. and Mychaleckyj, Josyf C. and Bonten, Tobias N. and Enroth, Stefan and Lind, Lars and Brusselle, Guy G. and Kumar, Ashish and Stubbe, Beate and Understanding Society Scientific Group, and Kähönen, Mika and Wyss, Annah B. and Psaty, Bruce M. and Heckbert, Susan R. and Hao, Ke and Rantanen, Taina and Kritchevsky, Stephen B. and Lohman, Kurt and Skaaby, Tea and Pisinger, Charlotta and Hansen, Torben and Schulz, Holger and Polasek, Ozren and Campbell, Archie and Starr, John M. and Rich, Stephen S. and Mook-Kanamori, Dennis O. and Johansson, Åsa and Ingelsson, Erik and Uitterlinden, André G. and Weiss, Stefan and Raitakari, Olli T. and Gudnason, Vilmundur and North, Kari E. and Gharib, Sina A. and Sin, Don D. and Taylor, Kent D. and O'Connor, George T. and Kaprio, Jaakko and Harris, Tamara B. and Pederson, Oluf and Vestergaard, Henrik and Wilson, James G. and Strauch, Konstantin and Hayward, Caroline and Kerr, Shona and Deary, Ian J. and Barr, R. Graham and de Mutsert, Renée and Gyllensten, Ulf and Morris, Andrew P. and Ikram, M. Arfan and Probst-Hensch, Nicole and Gläser, Sven and Zeggini, Eleftheria and Lehtimäki, Terho and Strachan, David P. and Dupuis, Josée and Morrison, Alanna C. and Hall, Ian P. and Tobin, Martin D. and London, Stephanie J.. (2018) Meta-analysis of exome array data identifies six novel genetic loci for lung function. Wellcome Open Research, 3. p. 4.

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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 (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.
Faculties and Departments:09 Associated Institutions > Swiss Tropical and Public Health Institute (Swiss TPH) > Department of Epidemiology and Public Health (EPH) > Chronic Disease Epidemiology > Genetic Epidemiology of Non-Communicable Diseases (Probst-Hensch)
03 Faculty of Medicine > Departement Public Health > Sozial- und Präventivmedizin > Genetic Epidemiology of Non-Communicable Diseases (Probst-Hensch)
09 Associated Institutions > Swiss Tropical and Public Health Institute (Swiss TPH)
UniBasel Contributors:Probst-Hensch, Nicole and Imboden, Medea
Item Type:Article, refereed
Article Subtype:Research Article
Publisher:F1000Research
e-ISSN:2398-502X
Note:Publication type according to Uni Basel Research Database: Journal article
Language:English
Identification Number:
Last Modified:05 Oct 2018 12:10
Deposited On:05 Oct 2018 12:08

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