| Authors |
Daškevičiūtė, Aurelija ; Zaboras, Edgaras ; Navalinskas, Jonas ; Baronas, Karolis ; Jasionis, Arminas ; Navickienė, Eglė ; Mameniškienė, Rūta |
| Abstract [eng] |
The most investigated ABCB1 single-nucleotide polymorphisms (SNPs) related to antiseizure medication resistance are rs1045642 (c.3435C>T, p.Ile1145=), rs2032582 (c.2677G>T/A, p.Ala893Ser/Thr), and rs1128503 (c.1236C>T, p.Gly412=). We conducted a literature review to evaluate the genotype frequencies of rs1045642, rs2032582, and rs1128503 SNPs in different ancestries among the drug-resistant and drug-responsive epilepsy groups. Furthermore, we performed effect size and study power analyses and determined the expected sample size to reach a study power of 0.8 for each conducted research. High and very high statistical power for the rs1045642, rs2032582, and rs1128503 polymorphisms was achieved in 58.0, 60.7, and 31.8% of the studies, respectively. The effect sizes (ES) of rs1045642, rs2032582, and rs1128503 ranged from 0.03–1.04, 0.06–0.92, and 0.04–0.64, respectively. The required sample sizes for rs1045642, rs2032582, and rs1128503 ranged from 9–13,000, 12–2600, and 24–5700 participants, respectively. None of the polymorphisms showed a statistically significant association with antiseizure medication resistance in the forest plots. Our analysis provides valuable guidance for future genetic association studies in the field of drug-resistant epilepsy. |
