[Association between single nucleotide genetic polymorphisms in ABC transporter genes with drug-resistant epilepsy in the Spanish population].

ABSTRACT:

Introduction

Almost a third of all patients with epilepsy (30%) fail to respond to pharmacological treatment. The presence of single nucleotide polymorphisms (SNPs) in the individual may influence the variability of the response to drug treatment. The transporter hypothesis posits that the presence of SNPs in the genes encoding ABC proteins would affect the bioavailability of antiseizure drugs at the epileptogenic focus, giving rise to refractoriness. The aim of the present study was to evaluate the association of 13 polymorphisms in the ABCB1, ABCC2, ABCC5 and ABCG2 genes with drug-resistant epilepsy (DRE) in a Spanish population.

Subjects and methods

A case-control study was conducted involving 327 patients with epilepsy: 227 resistant to drug therapy and 100 in whom their

SUBMITTER: Nava-Cedeno DJ 

PROVIDER: S-EPMC10280709 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature