Genetic Variants Linked to Poor Heart Health in Black Childhood Cancer Survivors

Researchers have identified genetic variants in African American cancer survivors that augments the population’s risk of heart-related problems. The study was published today in the journal Cancer Research.

“Childhood cancer survivors are a unique population,” said corresponding author Yadav Sapkota, Ph.D., of the St. Jude Department of Epidemiology and Cancer Control via a press release. “But within that group, survivors of African ancestry are an even more specific population, who until now have generally been excluded from studies looking into the genetic mechanisms behind health outcomes among pediatric cancer survivors.”

The researchers uncovered on chromosome 15q25.3, the variant (rs9788776) occurs only in survivors of African descent and increases cardiomyopathy risk by almost 4.5 times. Moreover, on chromosome 1p13.2, the variant (rs6689879) increases cardiomyopathy risk in survivors of African descent by 5 times. The rs6689879 variant does occur in survivors of European descent, but only increases their cardiomyopathy risk by 1.3 times. Additional findings suggested a mechanism by which the 1p13.2 variant leads to cardiomyopathy by up-regulation of the gene PHTF1, a transcription factor, the researchers noted.

“As a group, childhood cancer survivors represent a highly heterogenous population with respect to type of cancer and treatment exposures. Thus, it is often important to investigate treatment-related risks within well-defined subgroups,” said author Leslie Robison, Ph.D., chair of the St. Jude Department of Epidemiology and Cancer Control. “The genetic variants identified in this study demonstrate the importance of considering associations within racial or ethnic subgroups.”

“All childhood cancer survivors should be monitored for cardiac late effects, but as we gain a more granular understanding of cardiomyopathy risk among different populations, we can start to focus interventions on those individuals with the greatest need,” said author Melissa Hudson, M.D., St. Jude Cancer Survivorship Division director.