Key result
Analysis of predicted loss-of-function variants in 454,709 individuals identified 15 genes that modulate blood pressure, including five genes harboring variants associated with lower blood pressure.
Why the study?
GWAS identified >1000 loci associated with blood pressure, but the identity of the causal genes responsible remained largely unknown.
Do predicted loss-of-function variants affect systolic or diastolic blood pressure in adults?
Population
454,709 UK Biobank participants (6% non-European ancestry)
Comparison
Single and rare burden predicted loss-of-function variants across genetic models
Design
Exome-wide genetic association study
Authors
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May inform antihypertensive target discovery; hypothesis-generating and should not yet change practice.
Observational (n=454,709)
Yes
Do predicted loss-of-function variants affect systolic or diastolic blood pressure in adults?
Genetic association analyses of predicted loss-of-function variants in the UK Biobank identified 15 genes that modulate blood pressure, providing potential new targets for antihypertensive drug development.
Lecluze et al. (2023) conducted an observational in Hypertension (n=454,709). Predicted loss-of-function (pLoF) variants vs. Non-carriers was evaluated on Systolic and diastolic blood pressure. Analysis of predicted loss-of-function variants in 454,709 individuals identified 15 genes that modulate blood pressure, including five genes harboring variants associated with lower blood pressure.
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