Abstracts

Association of FKBP5 Single Nucleotide Polymorphisms (rs9470080 and rs1360780) and Functional (psychogenic Non-epileptic) Seizures

Abstract number : 3.356
Submission category : 12. Genetics / 12A. Human Studies
Year : 2021
Submission ID : 1825565
Source : www.aesnet.org
Presentation date : 12/6/2021 12:00:00 PM
Published date : Nov 22, 2021, 06:44 AM

Authors :
Ali Asadi-Pooya, MD - Shiraz University of Medical Sciences; Leila Simani, PhD - Shahid Beheshti University of Medical Sciences

Rationale: We investigated the association between FKBP5 polymorphisms and functional seizures (FS). Given that a variety of FKBP5 Single Nucleotide Polymorphisms (SNPs) have been investigated in different studies, we selected two SNPs that were reported to have higher risks for other psychiatric disorders.

Methods: Participants included 70 patients with FS, 141 people with major depressive disorder (MDD), and 140 healthy controls. Their DNA was extracted and analyzed for the rs1360780 in the 3′ region and rs9470080 in the 5′ region of the FKBP5 gene. Early life trauma, depression, and anxiety were measured by childhood trauma questionnaire (CTQ) and hospital anxiety and depression scale (HADS), respectively.

Results: Patients with FS and those with MDD less often had GG and more often had AA genotypes in both rs9470080 and rs1360780 SNPs compared with healthy controls (p = 0.007 and 0.03, respectively). The frequency of AAAA haplotype was statistically significantly higher among patients with FS compared with that in healthy controls (34% vs. 22%; P = 0.0105, odds ratio = 1.797); it may act as a contributing factor for an increased risk of FS as a susceptibility haplotype.

Conclusions: There are significant associations between FKBP5 polymorphisms (rs9470080 and rs1360780) and FS. Future studies should replicate our findings in other populations and should also study other potential risk variants of FS. This line of work could lead to new horizons in understanding the neurobiology of FS and ultimately, to the development of better management strategies for these patients.

Funding: Please list any funding that was received in support of this abstract.: None.

Genetics