Article
A structural haplotype in the 17q21.31 MAPT region is associated with increased risk for chronic traumatic encephalopathy endophenotypes.
Cell reports. Medicine - 20 May 2025
Han Xudong, Zhang Yichi, Petrosky Jillian N, Bald Sarah, Sherva Richard M, Labadorf Adam, Cherry Jonathan D, Chung Jaeyoon, Farrell Kurt, Abdolmohammadi Bobak, Durape Shruti, Martin Brett M, Palmisano Joseph N, Farrell John J, Alvarez Victor E, Huber Bertrand R, Dwyer Brigid, Daneshvar Daniel H, Dams-O'Connor Kristen, Jun Gyungah R, Lunetta Kathryn L, Goldstein Lee E, Katz Douglas I, Cantu Robert C, Shenton Martha E, Cummings Jeffrey L, Reiman Eric M, Stern Robert A, Alosco Michael L, Tripodis Yorghos, Farrer Lindsay A, Stein Thor D, Crary John F, McKee Ann C, Mez Jesse
Abstract excerpt
Chronic traumatic encephalopathy (CTE) is a neurodegenerative tauopathy associated with repetitive head impact (RHI) exposure. Genetic variation in the 17q21.31 region, containing microtubule-associated protein tau (MAPT), has been implicated in tauopathies but has not been investigated in CTE. The region includes a megabase-long inversion (H1/H2) and copy-number variations, including α, β, and γ segments, which...
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