维生素E中的遗传多态性转运基因作为马类神经轴突变风险的决定因素
Yunzhuo Ma1, Sichong Peng1, Callum G Donnelly1
1Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, California 95616, USA.
Journal of veterinary internal medicine
|November 8, 2023
概括
维生素E代谢基因的遗传变异与四分之一马中的马神经轴突变/马退行性髓脑病变 (eNAD/EDM) 有关. 然而,特定的CD36变异显示出显著的关联,但低等位基因频率,表明复杂的遗传学.
科学领域:
- 遗传学 遗传学 是一个
- 马类医学 马类医学
- 神经科学是一个神经科学.
背景情况:
- 马类神经轴突变/马类退行性髓脑病变 (eNAD/EDM) 是一种与维生素E缺乏相关的遗传性神经退行性疾病.
- 人类的个人维生素E需求受到影响,影响维生素E代谢的遗传多态性.
研究的目的:
- 研究维生素E代谢基因中的遗传多态性与四分之一马 (QHs) 中eNAD/EDM风险之间的关联.
- 为了确定特定的遗传变异,有助于eNAD/EDM易感性在QHs.
主要方法:
- 一个回顾性病例控制研究,利用受影响和控制四分之一马的全基因组测序.
- 在28个与维生素E代谢相关的候选基因内的遗传变异的识别和基因定型.
- 在一个独立的四分之一马群中验证显著变异.
主要成果:
- 15个维生素E候选基因中的39个变异与eNAD/EDM有显著的关联 (P < .01).
- 在临床和死后确诊病例中,两个内在CD36变异 (chr4:726485和chr4:731082) 与eNAD/EDM显著相关.
- 在受影响的马和一般的马群中观察到相关的CD36变异的低等位基因频率.
结论:
- 在四分之一马中,CD36变异与eNAD/EDM的显著关联可能表明在疾病易感性方面发挥了作用.
- 受影响马的低等位基因频率表明了潜在的假阳性结果或品种内eNAD/EDM的遗传异质性.
- 需要进一步的研究来阐明四分之一马中eNAD/EDM复杂的遗传基础.
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