Risk factor for chronic traumatic encephalopathy

Repetitive head impact (RHI) may lead to chronic traumatic encephalopathy (CTE), a neurodegenerative tauopathy. 

Genetic variation in the 17q21.31 region, containing microtubule-associated protein tau (MAPT), has been implicated in tauopathies but not well studied in CTE.

The researchers identify H1β1γ1, a structural haplotype in the 17q21.31 region that contains MAPT, as a genetic risk factor for CTE neuropathological and clinical endophenotypes. The H1β1γ1 haplotype was significantly associated with dementia and semi-quantitative tau burden in multiple cortical and medial temporal regions commonly affected in CTE.

H1β1γ1 DGE analyses in the dorsolateral frontal cortex implicate cis-acting genes and inflammatory pathways.

H1β1γ1 may help explain CTE risk beyond repetitive head impact exposure.

https://www.cell.com/cell-reports-medicine/fulltext/S2666-3791(25)00157-0

https://sciencemission.com/risk-for-chronic-traumatic-encephalopathy