Approved Research

Multi-trait genome-wide and phenome-wide association analyses of complex genetic diseases

Lay summary

Nearly all diseases have a genetic component. Some diseases are caused by mutations in single genes such as cystic fibrosis and Huntington's disease. However, causes of many other diseases are much more complex. These complex genetic diseases such as asthma, chronic obstructive pulmonary disease (COPD), or systemic lupus erythematosus (SLE) are not caused by a single gene but influenced by multiple genes (polygenic) that interact with environmental and lifestyle factors such as pollution, exercise and diet. Understanding the genetic risk factors of complex diseases is important for disease prevention, timely diagnosis and treatment. We know that clinically and biologically related diseases often share genetic risk factors. In this proposal, we aim to (1) identify novel genetic associations by refining disease definitions based on clinical data and identify shared genetic factors between related diseases; (2) understand how the sum of these genetic factors contribute to disease risk and resilience at an individual level via polygenic risk scores, which could highlight unique biological pathways for better predictions, management and treatments. Our initial estimate is that we should be able to complete this project in 3 years.