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Jackson, Victoria E 
ORCID: 0000-0002-9758-9784, Latourelle, Jeanne C, Wain, Louise V ORCID: 0000-0003-4951-1867, Smith, Albert V, Grove, Megan L, Bartz, Traci M, Obeidat, Ma'en ORCID: 0000-0002-5443-2752, Province, Michael A, Gao, Wei, Qaiser, Beenish et al (show 98 more authors) , Porteous, David J ORCID: 0000-0003-1249-6106, Cassano, Patricia A ORCID: 0000-0003-4827-5073, Ahluwalia, Tarunveer S ORCID: 0000-0002-7464-3354, Grarup, Niels ORCID: 0000-0001-5526-1070, Li, Jin, Altmaier, Elisabeth, Marten, Jonathan ORCID: 0000-0001-6916-2014, Harris, Sarah E ORCID: 0000-0002-4941-5106, Manichaikul, Ani, Pottinger, Tess D ORCID: 0000-0003-0647-5712, Li-Gao, Ruifang ORCID: 0000-0003-0650-1351, Lind-Thomsen, Allan, Mahajan, Anubha ORCID: 0000-0001-5585-3420, Lahousse, Lies ORCID: 0000-0002-3494-4363, Imboden, Medea, Teumer, Alexander ORCID: 0000-0002-8309-094X, Prins, Bram ORCID: 0000-0001-5774-034X, Lyytikäinen, Leo-Pekka ORCID: 0000-0002-7200-5455, Eiriksdottir, Gudny, Franceschini, Nora, Sitlani, Colleen M, Brody, Jennifer A ORCID: 0000-0001-8509-148X, Bossé, Yohan ORCID: 0000-0002-3067-3711, Timens, Wim ORCID: 0000-0002-4146-6363, Kraja, Aldi, Loukola, Anu, Tang, Wenbo, Liu, Yongmei, Bork-Jensen, Jette ORCID: 0000-0003-4282-1344, Justesen, Johanne M ORCID: 0000-0002-0484-8522, Linneberg, Allan ORCID: 0000-0002-0994-0184, Lange, Leslie A, Rawal, Rajesh, Karrasch, Stefan, Huffman, Jennifer E, Smith, Blair H ORCID: 0000-0002-5362-9430, Davies, Gail, Burkart, Kristin M, Mychaleckyj, Josyf C ORCID: 0000-0003-2595-0005, Bonten, Tobias N ORCID: 0000-0002-7719-6182, Enroth, Stefan ORCID: 0000-0002-5056-9137, Lind, Lars, Brusselle, Guy G ORCID: 0000-0001-7021-8505, Kumar, Ashish, Stubbe, Beate, Understanding Society Scientific Group, , Kähönen, Mika, Wyss, Annah B, Psaty, Bruce M, Heckbert, Susan R, Hao, Ke, Rantanen, Taina ORCID: 0000-0002-1604-1945, Kritchevsky, Stephen B ORCID: 0000-0003-3336-6781, Lohman, Kurt, Skaaby, Tea, Pisinger, Charlotta, Hansen, Torben ORCID: 0000-0001-8748-3831, Schulz, Holger, Polasek, Ozren, Campbell, Archie ORCID: 0000-0003-0198-5078, Starr, John M, Rich, Stephen S, Mook-Kanamori, Dennis O, Johansson, Åsa ORCID: 0000-0002-2915-4498, Ingelsson, Erik, Uitterlinden, André G, Weiss, Stefan ORCID: 0000-0002-3553-4315, Raitakari, Olli T, Gudnason, Vilmundur ORCID: 0000-0001-5696-0084, North, Kari E, Gharib, Sina A ORCID: 0000-0002-2480-4367, Sin, Don D, Taylor, Kent D ORCID: 0000-0002-2756-4370, O'Connor, George T, Kaprio, Jaakko ORCID: 0000-0002-3716-2455, Harris, Tamara B, Pederson, Oluf, Vestergaard, Henrik ORCID: 0000-0003-3090-269X, Wilson, James G, Strauch, Konstantin, Hayward, Caroline ORCID: 0000-0002-9405-9550, Kerr, Shona ORCID: 0000-0002-4137-1495, Deary, Ian J, Barr, R Graham, de Mutsert, Renée, Gyllensten, Ulf, Morris, Andrew P ORCID: 0000-0002-6805-6014, Ikram, M Arfan ORCID: 0000-0003-0372-8585, Probst-Hensch, Nicole, Gläser, Sven, Zeggini, Eleftheria, Lehtimäki, Terho, Strachan, David P, Dupuis, Josée, Morrison, Alanna C, Hall, Ian P ORCID: 0000-0001-9933-3216, Tobin, Martin D ORCID: 0000-0002-3596-7874 and London, Stephanie J ORCID: 0000-0003-4911-5290
(2018)
Meta-analysis of exome array data identifies six novel genetic loci for lung function.
Wellcome open research, 3.
4-.
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Abstract
<b>Background:</b> 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. <b>Methods:</b> We carried out meta-analyses of exome array data and three lung function measures: forced expiratory volume in one second (FEV <sub>1</sub>), forced vital capacity (FVC) and the ratio of FEV <sub>1</sub> to FVC (FEV <sub>1</sub>/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. <b>Results:</b> We identified significant (P<2·8x10 <sup>-7</sup>) associations with six SNPs: a nonsynonymous variant in <i>RPAP1</i>, which is predicted to be damaging, three intronic SNPs ( <i>SEC24C, CASC17</i> and <i>UQCC1</i>) and two intergenic SNPs near to <i>LY86</i> and <i>FGF10.</i> Expression quantitative trait loci analyses found evidence for regulation of gene expression at three signals and implicated several genes, including <i>TYRO3</i> and <i>PLAU</i>. <b>Conclusions:</b> Further interrogation of these loci could provide greater understanding of the determinants of lung function and pulmonary disease.
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