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GWAS of three molecular traits highlights core genes and pathways alongside a highly polygenic background

View ORCID ProfileNasa Sinnott-Armstrong, View ORCID ProfileSahin Naqvi, View ORCID ProfileManuel Rivas, View ORCID ProfileJonathan K Pritchard
doi: https://doi.org/10.1101/2020.04.20.051631
Nasa Sinnott-Armstrong
1Department of Genetics, Stanford University
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  • For correspondence: nasa@stanford.edu pritch@stanford.edu
Sahin Naqvi
1Department of Genetics, Stanford University
2Department of Chemical and Systems Biology, Stanford University
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Manuel Rivas
3Department of Biomedical Data Sciences, Stanford University
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Jonathan K Pritchard
1Department of Genetics, Stanford University
4Department of Biology, Stanford University
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  • For correspondence: nasa@stanford.edu pritch@stanford.edu
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Summary

Genome-wide association studies (GWAS) have been used to study the genetic basis of a wide variety of complex diseases and other traits. We describe UK Biobank GWAS results for three molecular traits—urate, IGF-1, and testosterone—with better-understood biology than most other complex traits. We find that many of the most significant hits are readily and surprisingly interpretable. We observe huge enrichment of associations near genes involved in the relevant biosynthesis, transport, or signaling pathways. We show how GWAS data illuminate the biology of each trait, including differences in testosterone regulation between females and males. At the same time, even these molecular traits are highly polygenic, with many thousands of variants spread across the genome contributing to trait variance. In summary, for these three molecular traits we identify strong enrichment of signal in putative core gene sets, even while most of the SNP-based heritability is driven by a massively polygenic background.

Competing Interest Statement

The authors have declared no competing interest.

Footnotes

  • ↵* Joint First Authors

  • http://web.stanford.edu/group/pritchardlab/dataArchive.html

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY 4.0 International license.
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Posted January 12, 2021.
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GWAS of three molecular traits highlights core genes and pathways alongside a highly polygenic background
Nasa Sinnott-Armstrong, Sahin Naqvi, Manuel Rivas, Jonathan K Pritchard
bioRxiv 2020.04.20.051631; doi: https://doi.org/10.1101/2020.04.20.051631
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GWAS of three molecular traits highlights core genes and pathways alongside a highly polygenic background
Nasa Sinnott-Armstrong, Sahin Naqvi, Manuel Rivas, Jonathan K Pritchard
bioRxiv 2020.04.20.051631; doi: https://doi.org/10.1101/2020.04.20.051631

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