SCN1A rs3812718多态性调节TLE的结构和功能脑网络：一项多模态成像基因组学研究。

IF 2.3 3区医学 Q2 BEHAVIORAL SCIENCES

Epilepsy & Behavior Pub Date : 2025-09-27 DOI:10.1016/j.yebeh.2025.110725

Yiren Chen , Liyuan Fu , Xiaoyang Wang , Pengfan Yang , Hui Xiao , Shangwen Xu , Hui Li

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引用次数: 0

摘要

目的：探讨SCN1A rs3812718多态性对颞叶癫痫（TLE）患者脑灰质体积（GMV）和静息状态功能网络拓扑结构的影响。方法：60例TLE患者和28例健康对照（hc）进行基因分型和MRI （3D-T1、rs-fMRI）检查。参与者按基因型（AA/AGvs.GG）和疾病状态（TLEvs.HC）分组。基于体素的形态测量评估GMV；图论分析了泛函网络拓扑结构。2x2 ANCOVA检测基因型和疾病的主要效应及其相互作用。结果：AA/AG基因型频率在TLE组高于hc组。GMV：显著的基因型主效应（AA/AGvs）。GG)：右侧颞区/海马体/左侧SMG GMV减少；左侧MTG/右侧楔前叶增加。显著的疾病主效应（TLEvs）。HC)：广泛的GMV降低，特别是在中颞叶/新皮质区。显著的基因型-疾病相互作用：AA/AG基因型TLE患者GMV减少最广泛（双侧ITG、梭状回、右侧海马/楔前叶/枕、左侧尾状/直肌）。功能网络：显著的疾病主要影响：TLEvs.HC患者左背外侧前额叶皮层（SFGdor/MFG）中心性程度降低。对全局/节点拓扑没有显著的交互影响。相关性：AA/AG TLE患者左MTG GMV与癫痫持续时间呈负相关。结论：SCN1A rs3812718AA/AG基因型是TLE的危险因素。它独立地和交互地（与疾病状态）与TLE的结构脑改变（GMV）相关，并与认知区域的疾病相关功能网络改变（DC）相关。这些遗传神经成像特征为TLE精准医学提供了潜在的生物标志物。

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SCN1A rs3812718 polymorphism modulates structural and functional brain networks in TLE: A multimodal imaging-genomics study

Objective

To investigate the impact of the SCN1A rs3812718 polymorphism on gray matter volume (GMV) and resting-state functional network topology in temporal lobe epilepsy (TLE) patients.

Methods

60 TLE patients and 28 healthy controls (HCs) underwent genotyping and MRI (3D-T1, rs-fMRI). Participants were grouped by genotype (AA/AGvs.GG) and disease status (TLEvs.HC). Voxel-based morphometry assessed GMV; graph theory analyzed functional network topology. 2x2 ANCOVA tested genotype and disease main effects and their interaction.

Results

AA/AG genotype frequency was higher in (TLE vs.HCs). GMV: Significant genotype main effect (AA/AGvs.GG): reduced GMV in right temporal regions/hippocampus/left SMG; increased in left MTG/right precuneus. Significant disease main effect (TLEvs.HC): widespread GMV reductions, especially in mesiotemporal/neocortical areas. Significant genotype-by-disease interaction: TLE patients with AA/AG genotype showed the most extensive GMV reductions (bilateral ITG, fusiform gyri, right hippocampus/precuneus/occipital, left caudate/rectus).

Functional Networks

Significant disease main effect: reduced degree centrality in left dorsolateral prefrontal cortex (SFGdor/MFG) in TLEvs.HC. No significant interaction effects on global/nodal topology.

Correlations

In AA/AG TLE patients, left MTG GMV negatively correlated with epilepsy duration.

Conclusion

The SCN1A rs3812718AA/AG genotype is a TLE risk factor. It independently and interactively (with disease status) is associated with structural brain alterations (GMV) in TLE and is linked to disease-related functional network changes (DC) in cognitive regions. These genetic-neuroimaging signatures offer potential biomarkers for TLE precision medicine.

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来源期刊

Epilepsy & Behavior 医学-行为科学

CiteScore

5.40

自引率

15.40%

发文量

385

审稿时长

43 days

期刊介绍： Epilepsy & Behavior is the fastest-growing international journal uniquely devoted to the rapid dissemination of the most current information available on the behavioral aspects of seizures and epilepsy. Epilepsy & Behavior presents original peer-reviewed articles based on laboratory and clinical research. Topics are drawn from a variety of fields, including clinical neurology, neurosurgery, neuropsychiatry, neuropsychology, neurophysiology, neuropharmacology, and neuroimaging. From September 2012 Epilepsy & Behavior stopped accepting Case Reports for publication in the journal. From this date authors who submit to Epilepsy & Behavior will be offered a transfer or asked to resubmit their Case Reports to its new sister journal, Epilepsy & Behavior Case Reports.