Gene activity mapped across cohorts reveals aging risk
Which genes are active in whom, and when? A large-scale analysis charts genetic variants that drive gene activity. The findings touch on why some people age faster than others.
Our genes are fixed, but their activity varies enormously between people. Which variant of a gene you carry can influence how much protein that gene produces and how it is processed. Researchers call such variants expression quantitative trait loci (eQTLs) and splicing quantitative trait loci (sQTLs). They are a key to understanding genetic predisposition to disease and aging.
Larger dataset, greater precision
A new study in Science, part of the TOPMed programme, analysed eQTLs and sQTLs across multiple large cohorts simultaneously. By combining data from diverse populations, the researchers could better distinguish which genetic variants are robust across groups and which are population-specific.
According to the study, this approach yields a more precise picture of how genetic variants drive gene activity than earlier analyses in individual cohorts. The more diverse composition of TOPMed also makes it possible to identify variants missed in previous, predominantly European studies.
Link to aging and disease
eQTLs and sQTLs are relevant to longevity research because they help explain why genetic risk variants for age-related diseases have their effects. A variant that raises or lowers the activity of an aging-related gene can have measurable health and lifespan consequences over decades.
The study shows no direct clinical applications, but provides a tool for future research. A better understanding of the genetic architecture of gene activity enables more targeted searches for mechanisms underlying age-related diseases. TOPMed data are publicly available, enabling follow-up research.
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