P2Y12 receptor gene polymorphisms are associated with epilepsy
Qi Wang1, Nan-Rui Shi2, Peng Lv2
1School of Clinical Medicine, Southwest Medical University, 646000, Luzhou, China.
Purinergic Signalling
|February 17, 2022
Summary
Genetic variations in the P2Y12 receptor gene (P2Y12R) may increase epilepsy risk. Specifically, rs1491974 and rs6798347 polymorphisms are linked to higher susceptibility, with rs1491974 potentially affecting seizure frequency, particularly in females.
Area of Science:
- Neuroscience
- Genetics
- Pharmacology
Background:
- Microglial P2Y12 receptors (P2Y12Rs) are implicated in epilepsy pathophysiology via microglial-neuronal interactions and neurogenesis.
- Limited data exists on the association between P2Y12 receptor gene polymorphisms and clinical epilepsy cases.
Purpose of the Study:
- To investigate the association between P2Y12 receptor gene single-nucleotide polymorphisms (SNPs) and epilepsy risk.
- To explore potential sex-specific effects and correlations with seizure frequency.
Main Methods:
- Genotyping analysis of two P2Y12R SNPs (rs1491974 and rs6798347) in 176 epilepsy patients and 50 healthy controls.
- Statistical analysis including odds ratios (OR), confidence intervals (CI), and p-values.
- Subgroup analysis based on sex and seizure frequency.
Main Results:
- Carriers of the G allele for rs1491974 (G>A) or rs6798347 (G>A) showed an increased risk of epilepsy (OR = 0.576, p = 0.015; OR = 0.603, p = 0.043).
- The rs1491974 G>A genotype and allele frequencies were significantly different in females but not males (p = 0.004; p = 0.001).
- Individuals with the rs1491974 G>A genotype had a higher likelihood of more frequent seizures (OR = 0.476, p = 0.019).
Conclusions:
- P2Y12R gene polymorphisms rs1491974 and rs6798347 play a role in epilepsy susceptibility.
- The rs1491974 polymorphism may be specifically associated with increased seizure frequency, particularly in females.
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