抗 GAD 抗体相关癫痫的 HLA 分型。

IF 2.3 3区医学 Q2 BEHAVIORAL SCIENCES

Epilepsy & Behavior Pub Date : 2025-02-01 DOI:10.1016/j.yebeh.2024.110179

Lisa Gillinder , Tamara Powell , Donald Craig , Stephen Walsh , David Gillis , Pamela McCombe

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引用次数: 0

摘要

目的：抗gad65抗体已在癫痫患者中发现多年，但其病理生理相关性仍存在争议。对自身免疫性疾病的易感性与人类白细胞抗原（HLA）亚型有关。因此，本研究旨在确定抗gad65抗体相关癫痫患者与癫痫对照组相比是否存在共同的HLA类型。方法：从2021年至2023年在布里斯班三家医院招募抗gad65相关癫痫患者和癫痫对照组。病例脑脊液中证实有高滴度抗gad65抗体。采用下一代测序技术对HLA I类和II类进行高分辨率基因分型。结果：共纳入抗gad65患者10例（癫痫8例，脑后癫痫2例），对照组45例。6例（均为女性）合并自身免疫性疾病。DPB1*02 （Padj = 0.0109）存在单一的II类关联，其中7例（70% vs 7.7%对照）。在高分辨率下，HLA-DPB1*02:02:01保持显著相关性。结论：HLA与抗gad65抗体相关性癫痫的关联可能为其免疫病因提供初步证据。DPB1*02可能导致抗gad65相关癫痫的易感性，这种II级关联提示T细胞在病理生理中的作用。

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HLA typing in anti-GAD antibody associated epilepsy

Objective

Anti-GAD65 antibodies have been identified in people with epilepsy for many years, but their pathophysiological relevance is still debated. Susceptibility to autoimmune disease has been associated with Human Leukocyte Antigen (HLA) subtypes. Therefore, this study aimed to determine if there are common HLA types in anti-GAD65 antibody associated epilepsy cases compared to epilepsy controls.

Methods

People with anti-GAD65 associated epilepsy and epilepsy controls were recruited from three Brisbane Hospitals from 2021 to 2023. Cases had high titre anti-GAD65 antibodies confirmed in CSF. High resolution genotyping for class I and II HLA to 3 fields was performed using next generation sequencing.

Results

10 anti-GAD65 cases (8 with epilepsy and 2 with post-encephalitic epilepsy) and 45 controls were included. 6 cases (all female) had co-morbid autoimmune disease. A single class II association was found for DPB1*02 (Padj = 0.0109), which was identified in 7 of the cases (70 % vs 7.7 % controls). Significant association was preserved at high resolution for HLA-DPB1*02:02:01.

Conclusion

HLA association in anti-GAD65 antibody associated epilepsy might provide preliminary evidence to implicate an immune aetiology. DPB1*02 may confer a susceptibility to anti-GAD65 associated epilepsy and this class II association suggests a role for T cells in the pathophysiology.

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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.