Genetics of Chronic Traumatic Encephalopathy

Semin Neurol. 2020 Aug;40(4):420-429. doi: 10.1055/s-0040-1713631. Epub 2020 Jul 26.

Abstract

Although chronic traumatic encephalopathy (CTE) garners substantial attention in the media and there have been marked scientific advances in the last few years, much remains unclear about the role of genetic risk in CTE. Two athletes with comparable contact-sport exposure may have varying amounts of CTE neuropathology, suggesting that other factors, including genetics, may contribute to CTE risk and severity. In this review, we explore reasons why genetics may be important for CTE, concepts in genetic study design for CTE (including choosing controls, endophenotypes, gene by environment interaction, and epigenetics), implicated genes in CTE (including APOE, MAPT, and TMEM106B), and whether predictive genetic testing for CTE should be considered.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Review

MeSH terms

  • Apolipoproteins E / genetics*
  • Chronic Traumatic Encephalopathy / diagnosis*
  • Chronic Traumatic Encephalopathy / genetics*
  • Humans
  • Membrane Proteins / genetics*
  • Nerve Tissue Proteins / genetics*
  • tau Proteins / genetics*

Substances

  • ApoE protein, human
  • Apolipoproteins E
  • MAPT protein, human
  • Membrane Proteins
  • Nerve Tissue Proteins
  • TMEM106B protein, human
  • tau Proteins