Researchers studied a common condition where some blood cells have specific genetic mutations, known as clonal hematopoiesis of indeterminate potential (CHIP). They looked at data from over one million people in three large health databases to see how certain mutations in two genes, TET2 and DNMT3A, were connected to future health problems like low blood counts, blood cancers, and heart disease.
They found that not all mutations are equal. A specific subset of mutations that severely disrupt the function of these genes, particularly TET2 loss-of-function and the DNMT3A R882 variant, were linked to the highest risk. The study also showed that a blood test measuring DNA methylation—a chemical tag on DNA that reflects how disrupted the genes are—could predict a person's risk of these diseases as well as existing clinical risk scores.
It is important to know this was an observational study, which means it can show a link but cannot prove the mutations cause the diseases. The findings suggest that measuring this methylation activity could one day be a useful tool for doctors to better understand an individual's risk from CHIP. However, this research is still early, and most people with CHIP do not go on to develop serious illness.