Rxivist logo

Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 62,232 bioRxiv papers from 276,305 authors.

An atlas of polygenic risk score associations to highlight putative causal relationships across the human phenome

By Tom G Richardson, Sean Harrison, Gibran Hemani, George Davey Smith

Posted 11 Nov 2018
bioRxiv DOI: 10.1101/467910 (published DOI: 10.7554/elife.43657)

The age of large-scale genome-wide association studies (GWAS) has provided us with an unprecedented opportunity to evaluate the genetic liability of complex disease using polygenic risk scores (PRS). In this study, we have analysed 162 PRS (P<5x10-05) derived from GWAS and 551 heritable traits from the UK Biobank study (N=334,398). Findings can be investigated using a web application (http://mrcieu.mrsoftware.org/PRS_atlas/), which we envisage will help uncover both known and novel mechanisms which contribute towards disease susceptibility. To demonstrate this, we have investigated the results from a phenome-wide evaluation of schizophrenia genetic liability. Amongst findings were inverse associations with measures of cognitive function which extensive follow-up analyses using Mendelian randomization (MR) provided evidence of a causal relationship. We have also investigated the effect of multiple risk factors on disease using mediation and multivariable MR frameworks. Our atlas provides a resource for future endeavours seeking to unravel the causal determinants of complex disease.

Download data

  • Downloaded 1,594 times
  • Download rankings, all-time:
    • Site-wide: 3,222 out of 62,232
    • In genetics: 286 out of 3,538
  • Year to date:
    • Site-wide: 2,812 out of 62,232
  • Since beginning of last month:
    • Site-wide: 8,710 out of 62,232

Altmetric data

Downloads over time

Distribution of downloads per paper, site-wide

Sign up for the Rxivist weekly newsletter! (Click here for more details.)