| Title: | Rare, functionally validated, nonsense and missense mutations and human anthropometric and metabolic traits |
| Lead Institution: | University of Cambridge |
| Principal investigator: | Professor Stephen O'Rahilly |
Application 32974
WARNING: the interactive features of this website use CSS3, which your browser does not support. To use the full features of this website, please update your browser.
About
We know that some people carry rare mutations that disrupt the normal function of critical metabolic pathways, leading to conditions such as obesity and/or diabetes. Genome sequencing studies are increasingly identifying such rare mutations. Using knowledge about the precise structure and function of the proteins encoded by these genes and using experimental data generated in our lab we can predict which rare variant are likely to be disruptive. We plan to use the data from UK Biobank to examine the effects of carrying such mutations on measures such as body weight body fat distribution, and metabolic measures such as glucose levels. We will enhance the understanding of genotype-phenotype relationships in important diseases such as obesity and Type 2 diabetes We will identify through our own genetic and functional studies and through the literature, rare variants in genes thought to be important for control of energy balance and metabolism . We will sub-select rare variants on the basis fo our knowledge of their functional adverse consequences and then interrogate the database as to whether such variants, singly and in aggregate, have any association with a relevant measure phenotypes in Biobank Full2 Publications
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 9863 | Loss of GPR75 protects against non-alcoholic fatty liver disease and body fat accumulation | Alasdair Leeson-Payne (+18) | 2024 | Cell Metabolism |
| 12664 | MC3R links nutritional state to childhood growth and the timing of puberty | B. Y. H. Lam (+39) | 2021 | Nature |
Enabling scientific discoveries that improve human health