University of Exeter
About the Project
Project Summary:
A person’s health is influenced by their socioeconomic status, smoking and other behavioural and environmental factors, as well as their genetic make-up. Some genetic variants directly affect protein sequence, while others act as switches that turn protein production on and off, depending on cell and life stage. But both, alone and combined, can affect a person’s health. In this project, you will use recently released data on 3,000 proteins from 50,000 participants with their full genetic sequence to investigate how environmental and genetic effects combine to affect an individual’s metabolic disease risk profile, in particular diabetes and obesity.
Project Description:
In the last few years, large-scale genetic association studies, including exome and genome sequencing, of complex traits and diseases have increased our understanding of the contribution of genetic variants to an individual’s health and disease risk. Despite this success, there are many examples where individuals who inherit the same disease-causing genetic variant are unaffected. In rare monogenic disease, this phenomenon is referred to as incomplete penetrance. There may be significant phenotypic heterogeneity even within a family of individuals carrying the same damaging variant. Understanding the mechanisms of how this occurs is important as it may help identify those most at risk of disease who can be prioritised for preventative interventions or targeted treatment.
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