Variation in TMEM106B in chronic traumatic encephalopathy

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ID: 11808
2018
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Abstract
Abstract The genetic basis of chronic traumatic encephalopathy (CTE) is poorly understood. Variation in transmembrane protein 106B (TMEM106B) has been associated with enhanced neuroinflammation during aging and with TDP-43-related neurodegenerative disease, and rs3173615, a missense coding SNP in TMEM106B, has been implicated as a functional variant in these processes. Neuroinflammation and TDP-43 pathology are prominent features in CTE. The purpose of this study was to determine whether genetic variation in TMEM106B is associated with CTE risk, pathological features, and ante-mortem dementia. Eighty-six deceased male athletes with a history of participation in American football, informant-reported Caucasian, and a positive postmortem diagnosis of CTE without comorbid neurodegenerative disease were genotyped for rs3173615. The minor allele frequency (MAF = 0.42) in participants with CTE did not differ from previously reported neurologically normal controls (MAF = 0.43). However, in a case-only analysis among CTE cases, the minor allele was associated with reduced phosphorylated tau (ptau) pathology in the dorsolateral frontal cortex (DLFC) (AT8 density, odds ratio [OR] of increasing one quartile = 0.42, 95% confidence interval [CI] 0.22–0.79, p = 0.008), reduced neuroinflammation in the DLFC (CD68 density, OR of increasing one quartile = 0.53, 95% CI 0.29–0.98, p = 0.043), and increased synaptic protein density (β = 0.306, 95% CI 0.065–0.546, p = 0.014). Among CTE cases, TMEM106B minor allele was also associated with reduced ante-mortem dementia (OR = 0.40, 95% CI 0.16–0.99, p = 0.048), but was not associated with TDP-43 pathology. All case-only models were adjusted for age at death and duration of football play. Taken together, variation in TMEM106B may have a protective effect on CTE-related outcomes.
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Authors Cherry, Jonathan D.;Mez, Jesse;Crary, John F.;Tripodis, Yorghos;Alvarez, Victor E.;Mahar, Ian;Huber, Bertrand R.;Alosco, Michael L.;Nicks, Raymond;Abdolmohammadi, Bobak;Kiernan, Patrick T.;Evers, Laney;Svirsky, Sarah;Babcock, Katharine;Gardner, Hannah M.;Meng, Gaoyuan;Nowinski, Christopher J.;Martin, Brett M.;Dwyer, Brigid;Kowall, Neil W.;Cantu, Robert C.;Goldstein, Lee E.;Katz, Douglas I.;Stern, Robert A.;Farrer, Lindsay A.;McKee, Ann C.;Stein, Thor D.;
Journal acta neuropathologica communications
Year 2018
DOI
DOI not found
URL
http://link.springer.com/article/10.1186/s40478-018-0619-9
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