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When a pathogen enters the body and reproduces, it can cause an infection, damage body cells, and cause illness symptoms that eventually lead to disease. Therefore, its prevention requires breaking the chain of infection.
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基础科学和病原发生学

Luke W Bonham1,2, Alexis P Oddi2, Valerie Drews Escobar2

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此摘要是机器生成的。

一种常见的基因变异 (IFI44L rs273259) 影响神经退行性疾病的进展. 另一个等位基因与正常衰老和前性痴呆症和阿尔茨海默病等疾病的更快临床衰退有关.

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科学领域:

  • 神经科学是一个神经科学.
  • 遗传学 遗传学 是一个
  • 免疫学 免疫学 免疫学

背景情况:

  • 干扰素 (IFN) 反应失调与神经退行有关.
  • 在神经退行性疾病中IFN通路的作用中的遗传变异还未得到充分研究.
  • 病毒感染和疫苗接种可能会改变神经退行性疾病的风险.

研究的目的:

  • 研究IFN刺激基因IFI44L的常见遗传变异与神经退行性疾病和正常衰老的临床轨迹之间的关联.
  • 测试IFI44L变异调节疾病进展的假设.

主要方法:

  • 使用线性混合效应模型对两个独立队列 (UCSF记忆和衰老中心和ADNI) 进行了纵向分析.
  • 临床严重程度和认知障碍被评估,使用诸如临床痴呆症评分表 (CDR-SB) 和迷你精神状态检查等措施.
  • IFI44L rs273259基因型通过全基因组测序和Illumina GWAS BeadChips来确定.

主要成果:

  • 在ADNI队列中,IFI44L rs273259替代 (G) 基因表现出显著的,剂量依赖的关联与临床正常 (CN) 和轻度认知障碍 (MCI) 个体的更差的临床轨迹.
  • 在MAC队列中,替代代基因与CN中CDR-SB轨迹更差,前性痴呆和早期发病的AD相关.
  • IFI44L基因型与神经病理学定义的前叶退化 (FTLD) 亚型 (tau和TDP-43蛋白病变) 的临床轨迹相关.

结论:

  • 一种常见的IFI44L变体与正常衰老和多种神经退行性疾病的临床轨迹有显著的关联.
  • 这一发现证实了干扰素信号在衰老和神经退行过程中的关键作用.