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在功能性神经障碍中增加催产素受体基因变异的患病率:一个案例对照研究

Samantha Weber^1,2, Lucía Trinidad Rey Álvarez^3,4, Natascha Stoffel^3,5

¹Department of Neurology, Psychosomatic Medicine Unit, Inselspital Bern University Hospital, University of Bern, Bern, Switzerland.

The Journal of neuropsychiatry and clinical neurosciences

|September 19, 2025

概括

遗传因素,特别是OXTR基因变异rs53576,与功能神经障碍 (FND) 有关. 这种变体与胰岛和杏仁体的结构性大脑变化有关,特别是在女性FND患者中.

科学领域:

神经科学是一个神经科学.
遗传学是一个遗传学.
精神病学是一个精神病学.

背景情况:

功能神经障碍 (FND) 越来越多地被理解为具有多因素的起源.
生物脆弱性因素,包括大脑结构变化和应激反应失调,都与FND有关.
遗传因素在FND病理生理学中的作用需要进一步研究.

研究的目的:

研究压力反应系统基因中的遗传变异与FND之间的关联.
探索在FND患者中发现的遗传变异和结构性大脑变化之间的潜在联系.

主要方法:

在85名FND患者和76名健康对照 (HC) 中,在7个与压力相关的基因中对10个单核酸多态 (SNP) 的基因定型.
在82名FND患者中进行兴趣区域神经成像分析,以评估遗传变异和大脑结构之间的关联.
专注于以前被认为与FND脆弱性和应激反应相关的基因和大脑区域.

主要成果:

在催产素受体 (OXTR) 基因中发现FND和rs53576 SNP之间存在显著的关联.
rs53576 SNP与FND患者的右岛内体积减少有关.
在女性FND患者中,rs53576与双边杏仁体积的减少有关.

结论:

催化素系统中的遗传因素,特别是OXTR基因变异,可能会导致FND易受伤害.
胰岛和杏仁体的性别特异性结构性大脑变化与这些遗传因素有关.
由于特定的OXTR变异,催产素系统的调节失调可能会以性别依赖的方式影响FND中的压力反应.

关键词:

阿米格达拉的一个桃体.转化障碍转化障碍转化障碍遗传学协会遗传学协会岛屿岛屿 (英语:Insula) 是一个岛屿.催产素受体催产素受体压力易受伤害易受伤害

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