Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.
Division of Biomedical Statistics and Informatics, Mayo Clinic, Jacksonville, Florida, USA.
Mov Disord. 2020 May;35(5):890-894. doi: 10.1002/mds.28010. Epub 2020 Mar 6.
Intronic variant rs564309 in tripartite motif containing 11 (TRIM11) is associated with clinical phenotypic differences in progressive supranuclear palsy (PSP), whereby the minor allele (A) is more common in atypical PSP than typical PSP (PSP-Richardson's syndrome). However, rs564309 has not been investigated relative to neuropathological outcomes.
Evaluate the association of rs564309 with the neuropathologically assessed severity of tau pathology, as measured by semi-quantitative scores for neurofibrillary tangles, tufted astrocytes, neuropil threads, and oligodendroglial coiled bodies.
797 neuropathologically confirmed PSP cases were genotyped for TRIM11 rs564309 and assessed for tau pathology across 20 neuroanatomical regions. Tau pathology measures and age at death were examined for association with TRIM11 rs564309-A using multivariable linear regression models.
TRIM11 rs564309-A was associated with increased neurofibrillary tangles pathology (P = 0.050), but was not significantly associated with age at death, neuropil threads, coiled bodies, or tufted astrocytes tau pathology scores.
TRIM11 rs564309 may influence burden of neurofibrillary tangles tau pathology in PSP; further study is warranted. © 2020 International Parkinson and Movement Disorder Society.
三部分基序蛋白 11（TRIM11）内含子变异 rs564309 与进行性核上性麻痹（PSP）的临床表型差异相关，其中次要等位基因（A）在非典型 PSP 中比典型 PSP（Richardson 综合征）更为常见。然而，尚未针对神经病理学结局对 rs564309 进行研究。
评估 rs564309 与神经病理学评估的 tau 病理学严重程度的相关性，tau 病理学严重程度通过神经原纤维缠结、丛状星形胶质细胞、神经丝缠结和少突胶质细胞螺旋体的半定量评分来衡量。
对 797 例经神经病理学证实的 PSP 病例进行 TRIM11 rs564309 基因分型，并在 20 个神经解剖区域评估 tau 病理学。使用多变量线性回归模型，检查 TRIM11 rs564309-A 与 tau 病理学测量值和死亡年龄之间的关联。
TRIM11 rs564309-A 与神经原纤维缠结病理增加相关（P = 0.050），但与死亡年龄、神经丝缠结、螺旋体或丛状星形胶质细胞 tau 病理学评分无显著相关性。
TRIM11 rs564309 可能影响 PSP 中神经原纤维缠结 tau 病理学的负担；需要进一步研究。
