Implication of SCN1A rs2298771 and rs3812718 polymorphisms on anti-epileptic drug resistance among Iranian epileptic children

Previous studies documented polymorphisms in the sodium-channel gene SCN1A cause epilepsy, also theassociation of SCN1A polymorphisms with antiepileptic drugs (AEDs) efficacy and responsiveness. The aim ofthis study was to examine the influence of the SCN1A rs2298771 and rs3812718 polymorphisms on susceptibilityto epilepsy also response to AEDs among the Iranian population. 86 epileptic children and 100 healthy subjectswere genotyped for both polymorphisms using allele-specific PCR. Patients were divided to two groups: resistantand responsive to AEDs. We conducted analyses on genotypic and allelic association both of the polymorphismswith epilepsy occurrence and response to drug treatments.There were statistically significant differences in the allelic frequency and genotype distribution for rs2298771, p= 0.009, p = 0.027, respectively, but no for rs3812718 (p ≥ 0.05) between patients and controls. SCN1Ars2298771 A> G showed significantly association with epilepsy (p = 0.027), but rs3812718 G> A genotypes werenot significantly associated with epilepsy occurrence (p = 0.8). According to the results, response to AEDs in AGgenotype carriers of rs3812718 were significantly higher than those of GG+AA genotype carriers (p = 0.047).The distribution of rs2298771 A> G genotypes was similar between drug-responsive and drug-resistant patients(p = 0.303). In conclusion, both rs3812718 (IVS5–91 G> A) and rs2298771 (c.3184 A> G) polymorphisms couldbe genetic predictors of the epilepsy occurrence and response of patients to AEDs.

کلیدواژه ها:

Anti-epileptic ، SCN1A rs2298771 ، rs3812718