Aim of the project is to bring GWAS results, which show evidence of association between genetic loci and kidney function and CKD, to the level of causal involvment of specific variants or genes into pathophysiological pathways.
GWAS and whole exome sequencing data will be integrated and used in combination with functional data from gene expression, protein level, and DNA methylation platforms to infect the causal role of specific variants and genes on kidney function.
- Identification of functional genetic variants affecting kidney function and CKD risk;
- Understanding the spectrum of action of such variants in terms of transcriptomic, proteomic, and methylation, and the involved pathophysiological mechanisms; and
- Outlining of global genetic profiles for CKD risk.