Key result
Predicted loss-of-function variants in 15 genes are linked to blood pressure variation including lower BP.
Why the study?
Although GWAS have identified over 1000 loci associated with blood pressure, the causal genes responsible for these associations remain largely unknown.
Are predicted loss-of-function variants associated with variations in systolic or diastolic blood pressure in humans?
Population
454,709 participants in the UK Biobank whole-exome sequencing dataset
Comparison
Single and burden of rare predicted loss-of-function variants across genetic models
Design
Exome-wide genetic association study
Authors
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These BP associations warrant no clinical action; hypothesis-generating for pLoF-based gene prioritization at GWAS loci.
Cohort (n=454,709)
Are predicted loss-of-function variants associated with variations in systolic or diastolic blood pressure in humans?
The study identified 15 genes with predicted loss-of-function variants associated with blood pressure, validating the use of pLoF variants to prioritize causal genes at GWAS loci.
Lecluze et al. (2023) conducted a cohort in Hypertension (n=454,709). Predicted loss-of-function (pLoF) variants was evaluated on Systolic or diastolic blood pressure (SBP/DBP). Predicted loss-of-function variants in 15 genes were associated with blood pressure variation, including 5 genes harboring variants associated with lower blood pressure.
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