Clonal Hematopoiesis of Indeterminate Potential (CHIP) refers to the expansion of blood cell clones that have acquired one or more somatic mutations in individuals who are otherwise outwardly healthy. The prevalence of these mutations is correlated with age and has been reported to be associated with disease risk such as acute myeloid leukemia and cardiovascular disease. We propose to access the UK Biobank (UKB) data to investigate the prevalence of CHIP mutations and association with disease risk.
Our research intends to address these key questions:
1) What is the prevalence of specific CHIP mutations across UK Biobank demographics and when stratified by other clinical covariates?
2) What are the associations between specific CHIP mutations and the risk of cancer and cardiovascular diseases, and how do these risks differ by mutation type?
3) Are there associations between specific CHIP mutations and the risk of other diseases?
The objective of this work is to identify and characterize specific CHIP mutations in the UKB cohort and determine the prevalence of each mutation across diverse demographic subgroups. This research will study the relationship between CHIP mutations and the incidence of cardiovascular (e.g., coronary artery disease, thrombosis, etc) and other diseases. We will further examine whether certain CHIP mutations are more strongly associated with risk of specific types of cardiovascular events and outcomes, controlling for confounding variables such as lifestyle factors or geographic variation.
Understanding the prevalence of specific CHIP mutations across various demographic groups is essential for identifying high-risk populations and tailoring interception strategies. By focusing on mutation-specific associations with cardiovascular and other diseases, this study aims to elucidate the genetic underpinnings of disease susceptibility to inform personalized medicine approaches and disease interception strategies.