Cell & BioscienceGenetic & Genomic MedicinePeer-reviewed journal article
A polygenic risk score predicts mosaic loss of chromosome Y in circulating blood cells
Moeen RiaziD, Jonas MattissoniD, Galina PolekhinaiD, Andrew BakshiiD, Jonatan HalvardsoniD, Marcus DanielssoniD, Adam AmeuriD, John J. McNeiliD, Lars Anders ForsbergiD, Paul A LacazeiD
Abstract
Mosaic loss of Y chromosome (LOY) in leukocytes is associated with risk for death and disease in men. We investigated a polygenic risk score (PRS) for LOY comprising 156 previously associated germline variants, in 5131 men aged [≥]70 years. Levels of LOY were estimated using microarrays and validated by whole genome sequencing. After adjusting for covariates, the PRS was a significant predictor of LOY (odds ratio 1.74). Men in the highest quintile of the PRS distribution had >5-fold higher risk of LOY than the lowest. A PRS for LOY could become a useful tool for risk prediction and targeted intervention.
- organism: human
- assay: whole-genome sequencing
- research focus: variant effect prediction
- approach: statistical model
- Citations
- 15
- FWCI
- 1.27
- Field percentile
- top 21%
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