Uromodulin and risk of upper urinary tract infections: A Mendelian randomization study
The researchers examined whether uromodulin, a protein produced by the kidneys, helps protect against upper urinary tract infections using data from the CARTaGENE cohort and other large datasets. They used a genetic approach called Mendelian randomization. The study included participants with measured urinary uromodulin levels and individuals with or without upper urinary tract infections. Their analysis showed that higher genetically predicted levels of urinary uromodulin were linked to a lower risk of these infections. These findings suggest that uromodulin may play a protective role in preventing upper urinary tract infections.
Global Biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts
The researchers assessed the performance of polygenic risk scores (PRSs) in predicting disease risk across diverse global populations using data from the Global Biobank Meta-analysis Initiative (GBMI). They constructed PRSs using two methods: pruning and thresholding (P + T) and PRS-continuous shrinkage (CS). Data from nine biobanks, including the Ontario Health Study, were analyzed for 14 different disease endpoints. Results showed that PRS-CS generally outperformed the P + T method, particularly for diseases with higher SNP-based heritability.
Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease
The Global Biobank Meta-analysis Initiative is a collaborative network of 23 biobanks, representing more than 2.2M consented participants with genetic data linked to electronic health records. This collaborative effort will improve genome-wide association studies’ power for diseases, benefit understudied diseases, and improve risk prediction.