Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

<ns5:p><ns5:bold>Background:</ns5:bold> 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.</ns5:p><ns5:p> <ns5:bold>Methods:</ns5:bold> We carried out meta-analyses of exome array data and three lung function measures: forced expiratory volume in one second (FEV<ns5:sub>1</ns5:sub>), forced vital capacity (FVC) and the ratio of FEV<ns5:sub>1</ns5:sub> to FVC (FEV<ns5:sub>1</ns5: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.</ns5:p><ns5:p> <ns5:bold>Results:</ns5:bold> We identified significant (P<2·8x10<ns5:sup>-7</ns5:sup>) associations with six SNPs: a nonsynonymous variant in <ns5:italic>RPAP1</ns5:italic>, which is predicted to be damaging, three intronic SNPs (<ns5:italic>SEC24C, CASC17 </ns5:italic>and <ns5:italic>UQCC1</ns5:italic>) and two intergenic SNPs near to<ns5:italic> LY86 </ns5:italic>and <ns5:italic>FGF10.</ns5:italic> Expression quantitative trait loci analyses found evidence for regulation of gene expression at three signals and implicated several genes, including <ns5:italic>TYRO3</ns5:italic> and <ns5:italic>PLAU</ns5:italic>.</ns5:p><ns5:p> <ns5:bold>Conclusions: </ns5:bold>Further interrogation of these loci could provide greater understanding of the determinants of lung function and pulmonary disease.</ns5:p>

Original publication




Journal article

Publication Date



Understanding Society Scientific Group