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Approved research

Genomic analysis of potassium regulation by the skeleton

Principal Investigator: Dr Gerard Karsenty
Approved Research ID: 54985
Approval date: January 15th 2020

Lay summary

Hyperkalemia, or high systemic potassium levels, is a lethal condition that develops in kidney failure, adrenal insufficiency and rhabdomyolysis among many other diseases. The adrenal gland and kidney contribute to the development of hyperkalemia, however, it remains a lethal and difficult to control condition. Therefore it is important to discover new organ systems and genes that regulate potassium homeostasis and could potentially be therapeutic targets in the treatment of hyperkalemia. We have recently determined that the skeleton is a novel regulator of potassium homeostasis in mice. Here we propose to use the singular phenotype-genotype data in the UK Biobank to perform GWAS combined with new statistical and machine learning methods to discover whether polymorphisms in genes involved in skeletal biology are associated potassium homeostasis in humans. This will corroborate genetic studies in mice, which demonstrate the importance of the skeleton in potassium homeostasis and will suggest new therapeutic targets for the treatment of hyperkalemia in humans.