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Jackson, Victoria E.; Latourelle, Jeanne C.; Wain, Louise V.; Smith, Albert V.; Grove, Megan L.; Bartz, Traci M.; Obeidat, Ma'en; Province, Michael A.; Gao, Wei; Qaiser, Beenish; Porteous, David J.; Cassano, Patricia A.; Ahluwalia, Tarunveer S.; Grarup, Niels; Li, Jin; Altmaier, Elisabeth; Marten, Jonathan; Harris, Sarah E.; Manichaikul, Ani; Pottinger, Tess D.; Li-Gao, Ruifang; Lind-Thomsen, Allan; Mahajan, Anubha; Lahousse, Lies; [...]

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

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  • Medientyp: E-Artikel
  • Titel: Meta-analysis of exome array data identifies six novel genetic loci for lung function
  • Beteiligte: Jackson, Victoria E.; Latourelle, Jeanne C.; Wain, Louise V.; Smith, Albert V.; Grove, Megan L.; Bartz, Traci M.; Obeidat, Ma'en; Province, Michael A.; Gao, Wei; Qaiser, Beenish; Porteous, David J.; Cassano, Patricia A.; Ahluwalia, Tarunveer S.; Grarup, Niels; Li, Jin; Altmaier, Elisabeth; Marten, Jonathan; Harris, Sarah E.; Manichaikul, Ani; Pottinger, Tess D.; Li-Gao, Ruifang; Lind-Thomsen, Allan; Mahajan, Anubha; Lahousse, Lies; [...]
  • Erschienen: F1000 Research Ltd, 2018
  • Erschienen in: Wellcome Open Research
  • Sprache: Englisch
  • DOI: 10.12688/wellcomeopenres.12583.3
  • ISSN: 2398-502X
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <ns4:p><ns4:bold>Background:</ns4: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.</ns4:p><ns4:p> <ns4:bold>Methods:</ns4:bold> We carried out meta-analyses of exome array data and three lung function measures: forced expiratory volume in one second (FEV<ns4:sub>1</ns4:sub>), forced vital capacity (FVC) and the ratio of FEV<ns4:sub>1</ns4:sub> to FVC (FEV<ns4:sub>1</ns4: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.</ns4:p><ns4:p> <ns4:bold>Results:</ns4:bold> We identified significant (P&lt;2·8x10<ns4:sup>-7</ns4:sup>) associations with six SNPs: a nonsynonymous variant in <ns4:italic>RPAP1</ns4:italic>, which is predicted to be damaging, three intronic SNPs (<ns4:italic>SEC24C, CASC17 </ns4:italic>and <ns4:italic>UQCC1</ns4:italic>) and two intergenic SNPs near to<ns4:italic> LY86 </ns4:italic>and <ns4:italic>FGF10.</ns4:italic> Expression quantitative trait loci analyses found evidence for regulation of gene expression at three signals and implicated several genes, including <ns4:italic>TYRO3</ns4:italic> and <ns4:italic>PLAU</ns4:italic>.</ns4:p><ns4:p> <ns4:bold>Conclusions: </ns4:bold>Further interrogation of these loci could provide greater understanding of the determinants of lung function and pulmonary disease.</ns4:p>
  • Zugangsstatus: Freier Zugang