As we age, somatic mutations of hematopoietic stem cells (HSCs) occur, which leads to mutations in the circulating white blood cells. These mutations have the potential to develop into cancer or even cardiovascular disease such as heart attack. We have shown that copy number gain of chromosome 8 (three instead of two, thus called trisomy 8) is related to an increased expression of MYC, a factor related to cancer development such as myelodysplastic syndrome and acute myeloid leukemia. It is also known that patients with blood cancers have an increased rate of cardiovascular disease such as heart attack. Although the mechanism is unclear, certain somatic mutations of HSCs are thought to be related to the development of cardiovascular disease. The UK Biobank database has extensive genomic data, including the presence of trisomy 8 as well as long-term follow-up data such as cardiovascular disease and other cancer. Therefore, we plan to look at the role of chromosome copy number alterations (specifically focusing on chromosome 8) on the development of cardiovascular disease and non-blood cancer. This would allow an increased understanding of the link between cancer and cardiovascular disease development, risk stratification, and therapeutic targets.
