Ali Gharavi

Dec 13, 2023 | nature.com | Atlas Khan |Ning Shang |Jordan G. Nestor |Chunhua Weng |Ali Gharavi

AbstractChronic kidney disease (CKD) is determined by an interplay of monogenic, polygenic, and environmental risks. Autosomal dominant polycystic kidney disease (ADPKD) and COL4A-associated nephropathy (COL4A-AN) represent the most common forms of monogenic kidney diseases. These disorders have incomplete penetrance and variable expressivity, and we hypothesize that polygenic factors explain some of this variability.