| Title: | Use of UK Biobank data to support genetic studies of Mendelian and complex diseases with a focus on renal, cardiovascular and metabolic phenotypes |
| Lead Institution: | University of Freiburg |
| Principal investigator: | Professor Anna Kottgen |
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About
We aim to use genetic data to better understand the the functions of the human kidney and of metabolism, and the diseases that can result when these functions are disturbed. Chronic kidney disease affects 10% of the adult population and can lead to many complications. The reasons for the development and the progression of chronic kidney disease are incompletely understood. In addition, the kidney has many metabolic functions that are only partly known. We know that genetic factors are important for these processes, but know little about how genetic factors interact with each other and with external factors. These questions can only be examined in a very large study, such as the UK Biobank, that collected genetic data, biosamples, and detailed health information and medical records. We therefore plan to analyze UK Biobank data, by itself and together with data from other population and patient studies, over the next three years in order to better understand the mechanisms underlying the functions of the kidney and of metabolic and kidney disease. We expect that these analyses will promote both the discovery of novel risk genes for kidney and metabolic diseases, as well as identify environmental and other factors that modify the risk for genetic disease. The mechanisms implicated by these genes represent a first step towards the discovery and development of new drugs to treat kidney and metabolic diseases.2 Publications
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 12202 | Imputation-Powered Whole-Exome Analysis Identifies Rare Coding Variants and Genes Associated With Kidney Function and Disease in the UK Biobank | Maria-Alexandra Katsara (+2) | 2022 | Journal of the American Society of Nephrology |
| 11186 | Imputation-powered whole-exome analysis identifies genes associated with kidney function and disease in the UK Biobank | Matthias Wuttke (+12) | 2023 | Nature Communications |
Enabling scientific discoveries that improve human health