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Approved research

Evaluating genome-wide association and genetic interaction in complex traits

Principal Investigator: Dr Charles Kooperberg
Approved Research ID: 42680
Approval date: March 26th 2019

Lay summary

To ensure diverse populations are not the last to benefit in the new era of genomic medicine, there is a need to increase representation of these groups in genomics research. The Population Architecture using Genomics and Epidemiology (PAGE) study aims to address the knowledge gap for genomic translation in ancestrally diverse populations. We will leverage relevant data from the UK Biobank, in conjunction with existing PAGE sequence and multi-ethnic GWAS studies. This project will provide unique biological insights into the causal mechanisms of disease so that we can reduce the growing gaps in health disparities. We and others have shown that the paucity of representation of human genetic diversity leads to a shortcoming in our discovery potential for genomics in health. This is already resulting in clinical disparities in diagnostic potential. While genetic studies of common diseases like type 2 diabetes and cardiovascular disease have provided a great deal of insight, only a small proportion of the genetic causes have been explained. With a particular focus on ancestrally diverse populations, we propose to address this gap in knowledge, by analysing UK Biobank data in conjunction with existing data from the PAGE consortium. Our aim is to identify new genetic variation associated with complex traits, including inflammation, diabetes, hypertension, kidney function, electrophysiology of the heart, dyslipidemias, anthropometry, and behavior/lifestyle factors. Unlike previous studies, which have focused almost exclusively on European descent, we will use new methodology to analyse all participants in UK Biobank and PAGE together, thereby boosting our ability to discover new genetic risk factors.