FinnGen 3 DNA sample request for Autosomal Dominant Polycystic Kidney Disease (ADPKD)
21.08.2024
FinnGen is a 10-year study aiming to identify genetic risk factors for thousands of diseases. The third phase of the FinnGen study focuses on deeper analyses of diseases and genetic variants identified in the earlier phases without expanding the current cohort of 520,000 participants. The project will emphasize longitudinal studies of disease progression and therapeutic responses and explore the biological mechanisms of genetic signals in selected diseases. New health data and molecular profiling data will be integrated with the existing data to further boost our understanding of the biological processes underlying disease development in individuals with specific genetic variants.
In this FinnGen sub-effort, we aim to better understand the genetic background of the most common form of polycystic kidney disease, ADPKD. It affects about 1 in 400 to 1,000 people and is primarily caused by mutations in the PKD1 and PKD2 genes. Patients are usually diagnosed in adulthood and face risks like kidney failure, hypertension, and pain. To identify the key factors in ADPKD progression, it is important to know what kind of highly penetrant risk variants contributing to disease susceptibility the patients have. For this, the GWAS-based genotype data currently available in FinnGen is insufficient and thus we will perform exome sequencing on ~800 potential ADPKD cases.
