Genetics of suPAR
Genetic determinants and heritability of suPAR
suPAR has recently been found to be a strong predictor of cardiovascular outcomes and incident kidney disease in various populations, across gender and ethnicities, and suPAR likely plays a role in the link between kidney and cardiovascular diseases, however the mechanisms are as yet unknown. Examining suPAR with a large group study will allow us to gain a better understanding of its role in health and disease.
We're using two large cohorts of young, healthy individuals that have been previously examined with genome-wide association studies (GWAS):
Trinity Student Study (TSS), a cohort of 2,507 healthy Irish students attending the University of Dublin
Genes and Blooding-Clotting study (GABC), a cohort collected at the University of Michigan of 1,189 healthy individuals between 14 and 35 years of age, representing 507 sibling relationships
Genome-wide association studies (GWAS) are experimental designs used to detect associations between genetic variants and complex traits.
There haven't been any studies examining genetic determinants of suPAR levels.
The sibling relationships found in the two groups (557 total), allows us to use SNP genotypes and pedigree data to determine a heritability estimation of suPAR levels.
Correlating suPAR levels with clinically relevant hemostatic and inflammatory factors in healthy, young adults will allow us to generate new hypotheses on the potential interaction between suPAR and disturbances in the coagulation system.
Using a Mendelian Randomization study with the phenotype and genotype data from the UK Biobank, we'll connect suPAR levels to risk for chronic kidney disease and/or cardiovascular diseases.