Association between the endocannabinoid system-related gene polymorphisms and epilepsy

Abstract

Abstract The endocannabinoid system (ECS) is an intricate network consisting of receptors, enzymes, and endogenous ligands that play a pivotal role in various neurological processes. It has been implicated in the pathophysiology of several neurological disorders, including epilepsy. Extensive research has demonstrated the involvement of genetic factors in influencing the susceptibility to and progression of epilepsy. In this study, we focused on investigating the connection between genetic variations in genes related to the ECS and the occurrence of epilepsy. Some ECS-related gene polymorphisms were selected and genotyping was performed using the polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) technique. Interestingly, CB1 rs12720071 genotype (OR 16.33, 95% CI 1.8–149; p = 0.001) showed an association with generalized epilepsy and MAGL rs604300 genotype (OR 2, 95% CI 1.1–3.4; p = 0.013) demonstrated a relationship with females diagnosed with focal epilepsy. So, studying CB1, MAGL and their genetic variations provides insights into the role of the endocannabinoid system in health and diseases. Moreover, they hold the potential to pave the way for the development of novel therapeutic approaches specifically targeting them.