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Res"],"abstract":"<ns4:p>\n                    <ns4:bold>Background:<\/ns4:bold>\n                    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.\n                  <\/ns4:p>\n                  <ns4:p>\n                    <ns4:bold>Methods:<\/ns4:bold>\n                    We carried out meta-analyses of exome array data and three lung function measures: forced expiratory volume in one second (FEV\n                    <ns4:sub>1<\/ns4:sub>\n                    ), forced vital capacity (FVC) and the ratio of FEV\n                    <ns4:sub>1<\/ns4:sub>\n                    to FVC (FEV\n                    <ns4:sub>1<\/ns4:sub>\n                    \/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.\n                  <\/ns4:p>\n                  <ns4:p>\n                    <ns4:bold>Results:<\/ns4:bold>\n                    We identified significant (P&lt;2\u00b78x10\n                    <ns4:sup>-7<\/ns4:sup>\n                    ) associations with six SNPs: a nonsynonymous variant in\n                    <ns4:italic>RPAP1<\/ns4:italic>\n                    , which is predicted to be damaging, three intronic SNPs (\n                    <ns4:italic>SEC24C, CASC17<\/ns4:italic>\n                    and\n                    <ns4:italic>UQCC1<\/ns4:italic>\n                    ) and two intergenic SNPs near to\n                    <ns4:italic>LY86<\/ns4:italic>\n                    and\n                    <ns4:italic>FGF10.<\/ns4:italic>\n                    Expression quantitative trait loci analyses found evidence for regulation of gene expression at three signals and implicated several genes, including\n                    <ns4:italic>TYRO3<\/ns4:italic>\n                    and\n                    <ns4:italic>PLAU<\/ns4:italic>\n                    .\n                  <\/ns4:p>\n                  <ns4:p>\n                    <ns4:bold>Conclusions:<\/ns4:bold>\n                    Further interrogation of these loci could provide greater understanding of the determinants of lung function and pulmonary disease.\n                  <\/ns4:p>","DOI":"10.12688\/wellcomeopenres.12583.3","type":"journal-article","created":{"date-parts":[[2018,8,7]],"date-time":"2018-08-07T05:50:07Z","timestamp":1533621007000},"page":"4","update-policy":"https:\/\/doi.org\/10.12688\/wellcomeopenres.crossmark-policy","source":"Crossref","is-referenced-by-count":11,"title":["Meta-analysis of exome array data 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Freathy, Robin Beaumont, Institute of Biomedical and Clinical Science, University of Exeter, Exeter, UK, 03 Jul 2018, version 2, indexed","URL":"https:\/\/wellcomeopenresearch.org\/articles\/3-4\/v2#referee-response-33384","order":0,"name":"referee-response-33384","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"<b>Victoria Jackson<\/b>; \n<i>Posted: 17 Jul 2018<\/i>; Thank you for you approval of our article, and your additional comment. As suggested, we have added a further limitation to the discussion of the paper outlining the issue regarding the trait transformation. This has also been noted in the methods. We have also included the results of the sensitivity analyses in the supplement (Supplementary Figure 4).","URL":"https:\/\/wellcomeopenresearch.org\/articles\/3-4\/v3#referee-comment-3649","order":1,"name":"referee-comment-3649","label":"Referee Comment","group":{"name":"article-reports","label":"Article Reports"}},{"value":"10.21956\/wellcomeopenres.13627.r30984, Lisa Strug, Naim Panjwani, Research Institute, Hospital for Sick Children, Toronto, ON, Canada, 04 Apr 2018, version 1, 1 approved, 1 approved with reservations","URL":"https:\/\/wellcomeopenresearch.org\/articles\/3-4\/v1#referee-response-30984","order":2,"name":"referee-response-30984","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"MDT has been supported by MRC fellowships G0501942 and G0902313. MDT and LVW are supported by the MRC (MR\/N011317\/1). IPH is supported by the MRC (G1000861). ALW and SJL are supported by the Intramural Research Program of the NIH, National Institute of Environmental Health Sciences (ZIA ES 043012). We acknowledge use of phenotype and genotype data from the British 1958 Birth Cohort DNA collection, funded by the Medical Researanch Council grant G0000934 and the Wellcome Trust grant 068545\/Z\/02. APM was a Wellcome Trust Senior Fellow in Basic Biomedical Science (grant number WT098017) and was also supported by Wellcome Trust grant WT064890. EI is supported by the Swedish Research Council (2012-1397), Knut och Alice Wallenberg Foundation (2013.0126) and the Swedish Heart-Lung Foundation (20140422). JK is supported by Academy of Finland Center of Excellence in Complex Disease Genetics grants 213506, 129680 and Academy of Finland grants 265240, 263278. The Finnish Twin Cohort is supported by the Welcome Trust Sanger Institute, UK. The Lothian Birth Cohort is supported by Age UK (The Disconnected Mind Project), the UK Medical Research Council (MR\/K026992\/1) and The Royal Society of Edinburgh. \u00c5J is supported by the Swedish Society for Medical Research (SSMF), The Kjell och M\u00e4rta Beijers Foundation, The Marcus Borgstr\u00f6m Foundation, The \u00c5ke Wiberg foundation and The Vleugels Foundation. UG is supported by Swedish Medical Research Council grants K2007-66X-20270-01-3 and 2011-2354 and European Commission FP6 (LSHG-CT-2006-01947).  SHIP is part of the Community Medicine Research net of the University of Greifswald, Germany, which is funded by the Federal Ministry of Education and Research, the Ministry of Cultural Affairs as well as the Social Ministry of the Federal State of Mecklenburg-West Pomerania, and the network \u2018Greifswald Approach to Individualized Medicine (GANI_MED)\u2019 funded by the Federal Ministry of Education and Research, and the German Asthma and COPD Network (COSYCONET) (grant no.01ZZ9603, 01ZZ0103, 01ZZ0403, 03IS2061A, BMBF 01GI0883). ExomeChip data have been supported by the Federal Ministry of Education and Research (grant no. 03Z1CN22) and the Federal State of Mecklenburg-West Pomerania. The University of Greifswald is a member of the Cach\u00e9 Campus program of the InterSystems GmbH. UKHLS is supported by grants WT098051 (Wellcome Trust) and ES\/H029745\/1 (Economic and Social Research Council).  Y.B. holds a Canada Research Chair in Genomics of Heart and Lung Diseases. Lies Lahousse is a Postdoctoral Fellow of the Research Foundation - Flanders (FWO grant G035014N). The Rotterdam Study is funded by Erasmus Medical Center and Erasmus University, Rotterdam, the Netherlands Organization for Scientific Research (NOW), the Netherlands Organization for the Health Research and Development (ZonMw), the Research Institute for Diseases in the Elderly (RIDE), the Ministry of Education, Culture and Science, the Ministry for Health, Welfare and Sports, the European Commission (DG XII), and the Municipality of Rotterdam. Genotyping in the Rotterdam study was supported by Netherlands Organization for Scientific Research (NOW grants 175.010.2005.011 ; 911-03-305 012), the Research Institute for Diseases in the Elderly (RIDE2 grants 014-93-015) and Netherlands Genomics Initiative (NGI)\/Netherlands Consortium for Healthy Aging (NCHA grant050-060-810). MESA\/MESA SHARe is supported by HHS (HHSN268201500003I), NIH\/NHLBI (contracts  N01-HC-95159, N01-HC-95160, N01-HC-95161, N01-HC-95162, N01-HC-95163, N01-HC-95164, N01-HC-95165, N01-HC-95166, N01-HC-95167, N01-HC-95168, N01-HC-95169) and HIH\/NCATS (contracts UL1-TR-000040, UL1-TR-001079, UL1-TR-001881, DK063491). MESA SHARe is funded by NIH\/NHLBI contract N02-HL-64278, MESA Air is funded by US EPA (RD831697) and MESA Spirometry funded by NIH\/NHLBI (R01-HL077612).  SSR and BMP are supported by NIH\/NHLBI grant rare variants and NHLBI traits in deeply phenotyped cohorts (R01-HL120393).  Cardiovascular Health Study: This CHS research was supported by NHLBI contracts HHSN268201200036C, HHSN268200800007C, HHSN268201800001C, HHSN268200960009C, N01HC55222, N01HC85079, N01HC85080, N01HC85081, N01HC85082, N01HC85083, N01HC85086; and NHLBI grants U01HL080295, R01HL068986, R01HL087652, R01HL105756, R01HL103612, R01HL120393, and R01HL130114 with additional contribution from the National Institute of Neurological Disorders and Stroke (NINDS). Additional support was provided through R01AG023629 and R01HL085251 from the National Institute on Aging (NIA). The provision of genotyping data was suprovidedpported in part by the National Center for Advancing Translational Sciences, CTSI grant UL1TR001881, and the National Institute of Diabetes and Digestive and Kidney Disease Diabetes Research Center (DRC) grant DK063491 to the Southern California Diabetes Endocrinology Research Center. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. The Atherosclerosis Risk in Communities (ARIC) study is carried out as a collaborative study supported by the National Heart, Lung, and Blood Institute (NHLBI) contracts (HHSN268201100005C, HHSN268201100006C, HHSN268201100007C, HHSN268201100008C, HHSN268201100009C, HHSN268201100010C, HHSN268201100011C, and HHSN268201100012C). Funding support for \u201cBuilding on GWAS for NHLBI-diseases: the U.S. CHARGE consortium\u201d was provided by the NIH through the American Recovery and Reinvestment Act of 2009 (ARRA) (5RC2HL102419). DOMK received funding from the Dutch Science Organisation (ZonMW-VENI Grant 916.14.023).  The genotyping in the NEO study was supported by the Centre National de G\u00e9notypage (Paris, France), headed by Jean-Fran\u00e7ois Deleuze. The NEO study is supported by the participating Departments, the Division and the Board of Directors of the Leiden University Medical Center, and by the Leiden University, Research Profile Area Vascular and Regenerative Medicine.  SAPALDIA was supported by the Swiss National Science Foundation (grants no 33CS30-148470\/1, 33CSCO-134276\/1, 33CSCO-108796, , 324730_135673, 3247BO-104283, 3247BO-104288, 3247BO-104284, 3247-065896, 3100-059302, 3200-052720, 3200-042532, 4026-028099, PMPulDP3_129021\/1, PMPDP3_141671\/1), the Federal Office for the Environment, the Federal Office of Public Health, the Federal Office of Roads and Transport, the canton's government of Aargau, Basel-Stadt, Basel-Land, Geneva, Luzern, Ticino, Valais, and Z\u00fcrich, the Swiss Lung League, the canton's Lung League of Basel Stadt\/ Basel Landschaft, Geneva, Ticino, Valais, Graub\u00fcnden and Zurich, Stiftung ehemals B\u00fcndner Heilst\u00e4tten, SUVA, Freiwillige Akademische Gesellschaft, UBS Wealth Foundation, Talecris Biotherapeutics GmbH, Abbott Diagnostics, European Commission 018996 (GABRIEL), Wellcome Trust WT 084703MA. The Novo Nordisk Foundation Center for Basic Metabolic Research is an independent Research Center at the University of Copenhagen partially funded by an unrestricted donation from the Novo Nordisk Foundation (www.metabol.ku.dk). Generation Scotland received core support from the Chief Scientist Office of the Scottish Government Health Directorates [CZD\/16\/6] and the Scottish Funding Council [HR03006]. Genotyping of the GS:SFHS samples was carried out by the Genetics Core Laboratory at the Edinburgh Clinical Research Facility, University of Edinburgh, Scotland and was funded by the Medical Research Council UK.. The Croatia KORCULA study was supported by the Ministry of Science, Education and Sport in the Republic of Croatia (108-1080315-0302). JD, JCL, WG and GTOC are supported by NIH\/NHLBI Contract HHSN268201500001I. Genotyping, quality control and calling of the Illumina HumanExome BeadChip in the Framingham Heart Study was supported by funding from the National Heart, Lung and Blood Institute Division of Intramural Research (Daniel Levy and Christopher J. O\u2019Donnell, Principle Investigators). The AGES study is supported by the NIH (N01-AG012100), the Iceland Parliament (Al\u00feingi) and the Icelandic Heart Association. HABC was supported by NIA contracts N01AG62101, N01AG62103, and N01AG62106; NIA grant R01-AG028050, and NINR grant R01- NR012459 and was supported in part by the Intramural Research Program of the NIH, National Institute on Aging. The HABC genome-wide association study was funded by NIA grant 1R01AG032098- 01A1 and genotyping services were provided by the Center for Inherited Disease Research (CIDR). CIDR is fully funded through a federal contract from the National Institutes of Health to The Johns Hopkins University, contract number HHSN268200782096C. We thank the Jackson Heart Study (JHS) participants and staff for their contributions to this work. The JHS is supported by contracts HHSN268201300046C, HHSN268201300047C, HHSN268201300048C, HHSN268201300049C, HHSN268201300050C from the National Heart, Lung, and Blood Institute and the National Institute on Minority Health and Health Disparities. JGW is supported by U54GM115428 from the National Institute of General Medical Sciences. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.","order":3,"name":"grant-information","label":"Grant Information"},{"value":"This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.","order":0,"name":"copyright-info","label":"Copyright"}]}}