Researchers have identified hundreds of genetic variants associated with PSA levels, a key indicator for prostate cancer screening. This groundbreaking study, involving over 392,000 men of diverse ancestries, reveals a significant genetic contribution to PSA variation, particularly in European populations.
The study uncovered 447 independent genetic variants associated with PSA levels, including 409 in individuals of European ancestry, 56 in African ancestry, 22 in Hispanic/Latino ancestry, and 6 in Asian ancestry.
These variants explained up to 10% of PSA variation in European populations, suggesting that many more genetic factors remain to be discovered.
Polygenic risk scores (PRSs), which combine the effects of multiple genetic variants, were developed to predict PSA levels. These scores showed promising results, particularly in European populations, explaining up to 18.2% of PSA variation.
The study also found that genetic adjustment of PSA levels, taking into account an individual's genetic predisposition, improved the accuracy of prostate cancer screening, particularly for aggressive tumors.
Further research with larger and more diverse cohorts is needed to uncover additional genetic factors and refine PSA screening strategies.