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本文引用的文献

1
Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizures.与神经障碍相关的遗传变异在非癫痫性精神障碍患者中。
Sci Rep. 2020 Sep 16;10(1):15205. doi: 10.1038/s41598-020-72101-8.
2
Brain connectivity abnormalities in patients with functional (psychogenic nonepileptic) seizures: A systematic review.功能性(心因性非癫痫性)发作患者的脑连接异常:系统评价。
Seizure. 2020 Oct;81:269-275. doi: 10.1016/j.seizure.2020.08.024. Epub 2020 Sep 4.
3
Genetic association of FKBP5 with PTSD in US service members deployed to Iraq and Afghanistan.FKBP5与部署到伊拉克和阿富汗的美国军人创伤后应激障碍的基因关联。
J Psychiatr Res. 2020 Mar;122:48-53. doi: 10.1016/j.jpsychires.2019.12.014. Epub 2020 Jan 3.
4
Semiological classification of psychogenic nonepileptic seizures: A systematic review and a new proposal.心因性非癲癇性發作的症候學分類:系統回顧和新提案。
Epilepsy Behav. 2019 Nov;100(Pt A):106412. doi: 10.1016/j.yebeh.2019.07.013. Epub 2019 Oct 20.
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Association between FKBP5 polymorphisms and depressive disorders or suicidal behavior: A systematic review and meta-analysis study.FKBP5 多态性与抑郁障碍或自杀行为的关联:系统评价和荟萃分析研究。
Psychiatry Res. 2019 Jan;271:658-668. doi: 10.1016/j.psychres.2018.12.066. Epub 2018 Dec 10.
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Interaction between early-life stress and FKBP5 gene variants in major depressive disorder and post-traumatic stress disorder: A systematic review and meta-analysis.早年生活应激与FKBP5基因变异在重度抑郁症和创伤后应激障碍中的相互作用:一项系统综述和荟萃分析。
J Affect Disord. 2018 Jan 1;225:422-428. doi: 10.1016/j.jad.2017.08.066. Epub 2017 Aug 24.
7
Effect of the interaction between childhood abuse and rs1360780 of the FKBP5 gene on gray matter volume in a general population sample.童年期虐待与FKBP5基因的rs1360780之间的相互作用对一般人群样本中灰质体积的影响。
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Brain Imaging Behav. 2017 Feb;11(1):62-75. doi: 10.1007/s11682-015-9503-4.
9
Gene-Stress-Epigenetic Regulation of FKBP5: Clinical and Translational Implications.FKBP5的基因-应激-表观遗传调控:临床及转化意义
Neuropsychopharmacology. 2016 Jan;41(1):261-74. doi: 10.1038/npp.2015.235. Epub 2015 Aug 13.
10
Epidemiology of psychogenic nonepileptic seizures.心因性非癫痫性发作的流行病学
Epilepsy Behav. 2015 May;46:60-5. doi: 10.1016/j.yebeh.2015.03.015. Epub 2015 Apr 14.

FKBP5 单核苷酸多态性在功能性癫痫发作中的潜在作用。

Potential role of FKBP5 single-nucleotide polymorphisms in functional seizures.

机构信息

Epilepsy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

Jefferson Comprehensive Epilepsy Center, Department of Neurology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

出版信息

Epilepsia Open. 2023 Jun;8(2):479-486. doi: 10.1002/epi4.12716. Epub 2023 Mar 21.

DOI:10.1002/epi4.12716
PMID:36825897
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10235573/
Abstract

OBJECTIVE

We investigated the associations between FKBP5 single-nucleotide polymorphisms (SNPs) and functional seizures (FS).

METHODS

Seventy patients with FS, 140 with major depressive disorder (MDD), and 140 healthy controls were studied. Their DNAs were analyzed for the rs1360780 in the 3' region and rs9470080 in the 5' region of the FKBP5. Childhood trauma questionnaire and hospital anxiety and depression scale were used.

RESULTS

Patients with FS and those with MDD had less GG and more AA genotypes in both rs9470080 and rs1360780 SNPs compared with those in healthy controls. Similar results were observed for allelic frequencies. There were no significant differences between FS and MDD groups in terms of genotype and allelic frequencies for both SNPs. The results of multinomial logistic regression analysis showed that FKBP5 polymorphisms were not associated with the diagnosis.

SIGNIFICANCE

Patients with FS and those with MDD had significantly different genotypes in both rs9470080 and rs1360780 SNPs compared with those in healthy controls. However, it seems that FKBP5 polymorphisms were not associated with FS in the absence of depression. Further genetic investigations of patients with FS may increase our understanding of the neurobiological underpinnings of this condition, but such studies should be large enough and very well designed; they should include a comparison group with depression in addition to a healthy control group.

摘要

目的

我们研究 FKBP5 单核苷酸多态性(SNP)与功能性癫痫(FS)之间的关系。

方法

研究了 70 例 FS 患者、140 例重性抑郁障碍(MDD)患者和 140 例健康对照者。分析他们的 DNA 中 FKBP5 3'区域的 rs1360780 和 5'区域的 rs9470080。采用童年创伤问卷和医院焦虑抑郁量表进行评估。

结果

与健康对照组相比,FS 患者和 MDD 患者在 rs9470080 和 rs1360780 中,GG 基因型较少,AA 基因型较多。等位基因频率也观察到类似的结果。在这两个 SNP 的基因型和等位基因频率方面,FS 组和 MDD 组之间没有显著差异。多变量逻辑回归分析的结果表明,FKBP5 多态性与诊断无关。

意义

与健康对照组相比,FS 患者和 MDD 患者在 rs9470080 和 rs1360780 中,基因型有显著差异。然而,在没有抑郁的情况下,FKBP5 多态性似乎与 FS 无关。对 FS 患者进行进一步的遗传研究可能会增加我们对这种疾病神经生物学基础的理解,但此类研究应足够大,设计非常完善;除了健康对照组外,还应包括一个与抑郁相比较的对照组。