Genetic Variations in Neuroinflammatory Chemokine Receptor Genes in Patients with Epilepsy: An Exploratory Study
- 1Department of Medical Biology, Faculty of Medicine, Haliç University, 34060 Istanbul, Turkey
- 2Sinan Sipahi Family Health Centre, Republic of Turkey Ministry of Health, 34295 Istanbul, Turkey
- 3Department of Medical Biochemistry, Faculty of Medicine, Istanbul Atlas University, 34408 Istanbul, Turkey
Abstract
Epilepsy is a common neurological disorder in which genetic and neuroinflammatory mechanisms may contribute to differences in seizure control. Chemokine receptor signaling plays an important role in inflammatory processes, and genetic variations in neuroinflammatory chemokine receptor genes may potentially influence the prognosis of epilepsy. This study aimed to investigate genetic variations in the neuroinflammatory chemokine receptor genes CCR5 and CXCR4 in patients with epilepsy and to explore their potential association with seizure control during treatment. Targeted next-generation sequencing (tNGS) was performed to investigate genetic variations in the CCR5 and CXCR4 genes using genomic DNA obtained from 22 patients with epilepsy receiving antiseizure medication (ASM) treatment with levetiracetam and/or valproic acid. Patients were classified into two groups according to seizure frequency to evaluate the association between genetic variation and clinical prognosis. A total of seven genetic variants were identified in the CCR5 and CXCR4 genes, including three variants in CCR5 and four variants in CXCR4. However, sufficient genotype variation for group-wise comparisons was available only for CCR5 rs1799988 and rs1800023. No significant differences were observed in the genotype or allele distributions of the CCR5 and CXCR4 gene variants between the responsive and persistent groups. The two CCR5 variants, rs1799988 and rs1800023, showed strong linkage disequilibrium (D′ = 1.000, r2 = 0.913) and were included in a single haplotype block. None of the identified CCR5 haplotypes was significantly associated with seizure control. In this preliminary cohort, no statistically significant associations were detected between the analyzed genetic variations and seizure control during treatment; however, the limited sample size may have reduced the statistical power to detect potential associations. Strong linkage disequilibrium was observed between rs1799988 and rs1800023 (D′ = 1.000, r2 = 0.913), consistent with previously reported patterns. Given the small sample size and the limited number of informative variants, these findings should be interpreted as preliminary and hypothesis-generating rather than as evidence for or against a genetic contribution to seizure control. Larger, independent cohorts are needed to assess the potential clinical relevance of CCR5 and CXCR4 variation in epilepsy.
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BibTeX
@article{pekkocuyanik2026genetic,
title = {{Genetic Variations in Neuroinflammatory Chemokine Receptor Genes in Patients with Epilepsy: An Exploratory Study}},
author = {Kubra Cigdem Pekkoc-Uyanik and Erhan Rasit Agay and Hafize Uzun},
journal = {International Journal of Molecular Sciences},
year = {2026},
month = oct,
doi = {10.3390/ijms27219471},
url = {https://www.mdpi.com/1422-0067/27/21/9471},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Genetic Variations in Neuroinflammatory Chemokine Receptor Genes in Patients with Epilepsy: An Exploratory Study
AU - Kubra Cigdem Pekkoc-Uyanik
AU - Erhan Rasit Agay
AU - Hafize Uzun
PY - 2026
DA - 2026/10/23
JO - International Journal of Molecular Sciences
DO - 10.3390/ijms27219471
UR - https://www.mdpi.com/1422-0067/27/21/9471
AB - Epilepsy is a common neurological disorder in which genetic and neuroinflammatory mechanisms may contribute to differences in seizure control. Chemokine receptor signaling plays an important role in inflammatory processes, and genetic variations in neuroinflammatory chemokine receptor genes may potentially influence the prognosis of epilepsy. This study aimed to investigate genetic variations in the neuroinflammatory chemokine receptor genes CCR5 and CXCR4 in patients with epilepsy and to explore their potential association with seizure control during treatment. Targeted next-generation sequencing (tNGS) was performed to investigate genetic variations in the CCR5 and CXCR4 genes using genomic DNA obtained from 22 patients with epilepsy receiving antiseizure medication (ASM) treatment with levetiracetam and/or valproic acid. Patients were classified into two groups according to seizure frequency to evaluate the association between genetic variation and clinical prognosis. A total of seven genetic variants were identified in the CCR5 and CXCR4 genes, including three variants in CCR5 and four variants in CXCR4. However, sufficient genotype variation for group-wise comparisons was available only for CCR5 rs1799988 and rs1800023. No significant differences were observed in the genotype or allele distributions of the CCR5 and CXCR4 gene variants between the responsive and persistent groups. The two CCR5 variants, rs1799988 and rs1800023, showed strong linkage disequilibrium (D′ = 1.000, r2 = 0.913) and were included in a single haplotype block. None of the identified CCR5 haplotypes was significantly associated with seizure control. In this preliminary cohort, no statistically significant associations were detected between the analyzed genetic variations and seizure control during treatment; however, the limited sample size may have reduced the statistical power to detect potential associations. Strong linkage disequilibrium was observed between rs1799988 and rs1800023 (D′ = 1.000, r2 = 0.913), consistent with previously reported patterns. Given the small sample size and the limited number of informative variants, these findings should be interpreted as preliminary and hypothesis-generating rather than as evidence for or against a genetic contribution to seizure control. Larger, independent cohorts are needed to assess the potential clinical relevance of CCR5 and CXCR4 variation in epilepsy.
SN - 1422-0067
ER -