一个3'UTR插入在TMEM106B位置是一个候选因果变体,与FTLD-TDP风险增加有关
Augustine Chemparathy1, Yann Le Guen1,2, Yi Zeng3
1Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA.
medRxiv : the preprint server for health sciences
|July 18, 2023
概括
在TMEM106B附近的一种新的Alu插入与前叶痴呆症 (FTLD-TDP) 风险有关. 这种变异影响TMEM106B蛋白水平,表明它可能是神经退行性疾病风险的因果因素.
科学领域:
- 遗传学和基因组学 在
- 神经科学是一个神经科学.
- 分子生物学分子生物学
背景情况:
- 全基因组关联研究 (GWAS) 将TMEM106B附近的单核酸变异与前叶痴呆症与TDP-43包容 (FTLD-TDP) 和阿尔茨海默病 (AD) 联系起来.
- 在TMEM106B位点驱动这种关联的特定因果变异仍未确定.
结论:
- 在TMEM106B 3'UTR中发现了一种新的Alu插入,是该位点因果变异的强有力的候选者.
- 这种插入与已知的FTLD-TDP风险变异密切相关,并影响TMEM106B蛋白水平,但不影响mRNA表达.
- 需要进一步的功能性研究来最终证实这种Alu插入在神经退行性疾病病原发生中的作用.
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