Polygenic risk affects the penetrance of monogenic kidney disease.

ABSTRACT:

Background

Chronic kidney disease (CKD) is a genetically complex disease determined by an interplay of monogenic, polygenic, and environmental risks. Most forms of monogenic kidney diseases have incomplete penetrance and variable expressivity. It is presently unknown if some of the variability in penetrance can be attributed to polygenic factors.

Methods

Using the UK Biobank (N=469,835 participants) and the All of Us (N=98,622 participants) datasets, we examined two most common forms of monogenic kidney disorders, autosomal dominant polycystic kidney disease (ADPKD) caused by deleterious variants in the PKD1 or PKD2 genes, and COL4A-associated nephropathy (COL4A-AN caused by deleterious variants in COL4A3 , COL4A4 , or COL4A5 genes). We use

SUBMITTER: Khan A 

PROVIDER: S-EPMC10197721 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature