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Polygenic risk alters the penetrance of monogenic kidney disease

14 Dec 2023

Abstract excerpt

Chronic 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. By...

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PMID: 38097619
DOI: 10.1038/s41467-023-43878-9

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