Genomic inversions, life-style and environment as joint risk factors for common complex diseases
Principal Investigator: Juan Gonzalez
Approved Research ID: 43983
Approval date: November 8th 2018
A major challenge in biomedicine is to identify interactions between elements of nature and nurture that affect risk of common complex diseases (CCDs). Major CCDs (diabetes, cardiovascular disease, cancer, chronic respiratory disease, and mental disorders) are caused by a combination of genetic, lifestyle and environmental factors, most of which have not yet been identified. Genomic inversions are a common class of structural variants known to modulate phenotype and adaptation in different organisms. However, they are largely unstudied in CCDs. UK Biobank provides an unprecedented opportunity for cost-effective and powerful studies because we have access to lifestyle and environmental data from a large cohort as well as SNP data that can be used to genotype a catalogue of ~350 candidate genomic inversions. The analysis of genomic inversions will allow discovering new risk factors for major CCDs. The findings will open new horizons and improve our understanding in: 1) a new class of genetic variants, 2) explaining missing heritability and 3) defining approaches to modify genetic susceptibility by avoiding deleterious lifestyles and environmental risk factors.