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Phenome-wide search for pleiotropic loci highlights key genes and molecular pathways for human complex traits

View ORCID ProfileAnton E. Shikov, View ORCID ProfileAlexander V. Predeus, View ORCID ProfileYury A. Barbitoff
doi: https://doi.org/10.1101/672758
Anton E. Shikov
1Bioinformatics Institute, Saint Petersburg, Russia
2City Hospital No. 40, St. Petersburg, Russia
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Alexander V. Predeus
1Bioinformatics Institute, Saint Petersburg, Russia
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  • For correspondence: barbitoff@bioinf.me predeus@bioinf.me
Yury A. Barbitoff
1Bioinformatics Institute, Saint Petersburg, Russia
3Dpt. of Genetics and Biotechnology, Saint-Petersburg State University, Saint Petersburg, Russia
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  • For correspondence: barbitoff@bioinf.me predeus@bioinf.me
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Abstract

Over recent decades, genome-wide association studies (GWAS) have dramatically changed the understanding of human genetics. A recent genetic data release by UK Biobank has allowed many researchers worldwide to have comprehensive look into the genetic architecture of thousands of human phenotypes. In this study, we developed a novel statistical framework to assess phenome-wide significance and genetic pleiotropy across the human phenome based on GWAS summary statistics. We demonstrate widespread sharing of genetic architecture components between distinct groups of traits. Apart from known multiple associations inside the MHC locus, we discover high degree of pleiotropy for genes involved in immune system function, apoptosis, hemostasis cascades, as well as lipid and xenobiotic metabolism. We find several notable examples of novel pleiotropic loci (e.g., the MIR2113 microRNA broadly associated with cognition), and provide several possible mechanisms for these association signals. Our results allow for a functional phenome-wide look into the shared components of genetic architecture of human complex traits, and highlight crucial genes and pathways for their development.

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Posted June 16, 2019.
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Phenome-wide search for pleiotropic loci highlights key genes and molecular pathways for human complex traits
Anton E. Shikov, Alexander V. Predeus, Yury A. Barbitoff
bioRxiv 672758; doi: https://doi.org/10.1101/672758
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Phenome-wide search for pleiotropic loci highlights key genes and molecular pathways for human complex traits
Anton E. Shikov, Alexander V. Predeus, Yury A. Barbitoff
bioRxiv 672758; doi: https://doi.org/10.1101/672758

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