ESR 1: Genetic Underpinnings of and Causality of Novel Biomarkers CKD in Humans

Supervisor: Cristian Pattaro

PhD Student: Dariush Ghasemi

Short Summary

CKD progression rate varies considerably among individual patients exposed to the same risk factors. Population-based genome-wide association studies (GWAS) have uncovered hundreds of genetic loci associated with kidney function and CKD risk. However, causal genes and variants at reported loci often remain elusive. To inform experimental follow-up, a more narrow identification and characterization of target genes and functional variants is necessary. Complementary strategies including exploitation of whole GWAS and exome sequence data in combination with molecular data (gene expression, protein levels, methylation levels) will be undertaken to identify functional variants with treatment translation potential.

Scientific strategy


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.

Expected Results:

  1. Identification of functional genetic variants affecting kidney function and CKD risk;
  2. Understanding the spectrum of action of such variants in terms of transcriptomic, proteomic, and methylation, and the involved pathophysiological mechanisms; and
  3. Outlining of global genetic profiles for CKD risk.