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Scientists at the Broad Institute of MIT and Harvard, Massachusetts General Hospital (MGH), and Harvard Medical School, in partnership with IBM Research and health technology company Color, say they have discovered a possible reason why not everyone carrying high-risk single-gene variants develops the disease.
The team studied genetic and clinical data from more than 80,000 people and found that a person’s genetic background influences not only the risk of heart disease in people carrying familial hypercholesterolemia gene variants, but also the risks of breast cancer and colorectal cancer in individuals with high-risk single-gene variants that predispose them to these diseases.
Moreover, the researchers discovered that for some people with these high-risk single-gene variants, having a low polygenic score, which accounts for the small contributions from many common genetic variants for disease spread throughout the genome, could lower their risk of disease, bringing it closer to the population average.
The findings, “Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions,”published in Nature Communications, have both biological and clinical implications. They help explain why some genetically predisposed...
