Selected article for: "allele frequency and lung disease"

Author: Allen Wang; Joshua A Chiou; Olivier B Poirion; Justin Buchanan; Michael J Valdez; Jamie M Verheyden; Xiaomeng Hou; Minzhe Guo; Jacklyn M Newsome; Parul Kudtarkar; Dina A Faddah; Kai Zhang; Randee E Young; Justinn Barr; Ravi Misra; Heidie Huyck; Lisa Rogers; Cory Poole; Jeffery A Whitsett; Gloria Pryhuber; Yan Xu; Kyle J Gaulton; Sebastian Preissl; Xin Sun
Title: Single Nucleus Multiomic Profiling Reveals Age-Dynamic Regulation of Host Genes Associated with SARS-CoV-2 Infection
  • Document date: 2020_4_14
  • ID: 5kvq6jtx_25
    Snippet: Mapping the discrete accessible chromatin sites at genes required for SARS-CoV-2 394 viral entry allowed us to next characterize non-coding sequence variation that might affect 395 regulation of these sites and contribute to phenotypic differences in the risk of lung 396 disease. In particular, we focused on the 37 sites linked to TMPRSS2 activity including 397 13 with age-increased chromatin accessibility. Figure 4A ). Among these 148 variants, .....
    Document: Mapping the discrete accessible chromatin sites at genes required for SARS-CoV-2 394 viral entry allowed us to next characterize non-coding sequence variation that might affect 395 regulation of these sites and contribute to phenotypic differences in the risk of lung 396 disease. In particular, we focused on the 37 sites linked to TMPRSS2 activity including 397 13 with age-increased chromatin accessibility. Figure 4A ). Among these 148 variants, 14 were common (defined here as 406 minor allele frequency > 1%) in at least one major population group in gnomAD, several 407 of which were predicted to disrupt AT2 age-dynamic TF motifs such as FOS/JUN, IRF, 408 STAT, RUNX, NKX and ESR1 ( Figure 4A ). The common variants generally had 409 consistent frequencies across populations, except for rs35074065 which was much less 410 common in East Asians (EAS) relative to other populations (MAF=0.005, Figure 4B ). 411

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