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

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) (2018) Meta-analysis of exome array data identifies six novel genetic loci for lung function. Wellcome open research, 3. 4-.

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<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.

Item Type: Article
Uncontrolled Keywords: Understanding Society Scientific Group
Depositing User: Symplectic Admin
Date Deposited: 14 Sep 2018 10:16
Last Modified: 19 Jan 2023 01:17
DOI: 10.12688/wellcomeopenres.12583.3
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