Epilepsy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Jefferson Comprehensive Epilepsy Center, Department of Neurology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Epilepsia Open. 2023 Jun;8(2):479-486. doi: 10.1002/epi4.12716. Epub 2023 Mar 21.
We investigated the associations between FKBP5 single-nucleotide polymorphisms (SNPs) and functional seizures (FS).
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.
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.
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.
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。
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。
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。
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。