One in every three adults experience hypertension worldwide which is also known as high blood pressure. In a new study published in the journal Nature Genetics, a human genome and more than 2,000 independent genetic signals might influence a person’s blood pressure. Researchers analyzed genetic data from more than 1 million individuals from the UK Biobank. 113 regions of the human genome, which is also known as genomic loci, were identified. Researchers also found more than 2000 independent genetic signals for blood pressure across all loci. Even though many genetic variants within the same ‘locus’ a specifically defined region on a chromosome will be similar since researchers found many examples of ‘loci,’ which contain multiple, independent, distinct signals.
These are like different clusters of genetic variants within a ‘locus,’ but which are shown to be uncorrelated, so they are not similar to each other and the biological mechanism through which they influence blood pressure regulation may be different.
The research team took the new genetic findings and used them to calculate polygenic risk scores. Researchers wanted to combine all the effects of all associated genetic variants into one single aggregated risk score, adding up the effects across all variants over the whole genome, which researchers call a polygenic risk score, this explains much larger effects on blood pressure.
A polygenic risk score essentially gives each a score according to how many risk variants a person carries. Knowing someone’s genetic risk score would enable a doctor to know if the patient was in the high genetic risk group. The highest genetic risk group also has a seven-times likelihood of developing high blood pressure compared to those with the lowest genetic risk. This would first help doctors in identifying patients at risk for developing high blood pressure and severe high blood pressure.
Journal Reference – Keaton, J. M., Kamali, Z., Xie, T., Vaez, A., Williams, A., Goleva, S. B., … Warren, H. R. (2024). Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.
