Boston University Alzheimer's Disease Center, Boston University School of Medicine, Boston, MA.
Boston University Chronic Traumatic Encephalopathy Center, Boston University School of Medicine, Boston, MA.
Semin Neurol. 2020 Aug;40(4):420-429. doi: 10.1055/s-0040-1713631. Epub 2020 Jul 26.
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 , , and ), and whether predictive genetic testing for CTE should be considered.
虽然慢性创伤性脑病(CTE)在媒体上引起了广泛关注,并且在过去几年中取得了显著的科学进展,但遗传风险在 CTE 中的作用仍不清楚。两名接触性运动暴露相当的运动员可能具有不同程度的 CTE 神经病理学,这表明其他因素,包括遗传因素,可能会影响 CTE 的风险和严重程度。在这篇综述中,我们探讨了遗传因素为何可能对 CTE 很重要,探讨了 CTE 遗传研究设计的概念(包括选择对照、内表型、基因与环境相互作用和表观遗传学),探讨了 CTE 中涉及的基因(包括、和),以及是否应考虑对 CTE 进行预测性遗传检测。