Genetic variant may put older individuals at increased risk of severe CTE


A new study revealed that the genetic variant APOEε4 may make an individual more than twice as likely to develop  severe chronic traumatic encephalopathy (CTE).

The study, published in JAMA Neurology, was conducted by researchers from the Boston University (BU) CTE center. The study set out to discover if there was an association between APOEε4 and CTE outcomes and related endophenotypes.

Researchers analyzed the brains of 364 donors aged 65 and older who had repeated head trauma through contact sports or military services. Among them, 294 had developed CTE and 70 had not. To discover whether the donor was a carrier of APOEε4, researchers performed neurological analysis. Next, to determine the severity of the donor’s CTE, researchers used quantitative analysis of the abnormal tau protein burden. The study found that carries of APOEε4 were 2.34 times more likely to have CTE than those without the gene.

“This study provides the most concrete evidence to date that APOEε4 is a risk factor for CTE-related pathological and clinical outcomes,” said corresponding author Jesse Mez, MD, MS, director of the BU Alzheimer’s Disease Research Center Clinical Core and a BU CTE Center investigator in a statement. “Understanding genetic underpinnings of CTE pathology may provide insights into disease mechanism and offers a precision medicine approach to harm reduction, including guiding decisions regarding contact sport play and providing a target for therapies.”