A Pilot Study On The Association Of GABA(A) Receptor Subunit Gene Single Nucleotide Polymorphisms(SNPs) And Epilepsy

Objective:Previous research has indicated that single nucleotide polymorphisms(SNPs) of GABA(A) receptor subunit, especially al,p3 and y2 subunit, was associated with the etiology and pharmacoresistance of several types of epilepsy. This study aimed at three SNPs which were reported often. We compared the genotype frequency of epilepsy patients and control subjects, and explored the association of SNPs and the susceptibility, severity and comorbidity of epilepsy.Methods:205 epilepsy patients and 83 healthy controls were enrolled in the study. We extracted DNA from peripheral blood and identified the genotype of 3 SNPs(rs211014,rs2279020,rs4906902)by Snapshot. Seizure severity was measured with National Hospital Seizure Severity Scale(NHS3) and VA Seizure type and frequency rating(VA-2). MMSE was used to evaluate cognition and HAMD was applied for evaluation of depression in epilepsy patients.Results:The patients consisted of 20 idiopathic,163 essential,22 secondary and 14 with status epilepticus. The distribution of any genotypes of 3 SNPs in the epilepsy group and control group was not significantly different. The frequency of GG-type of rs2279020 was significantly higher in idiopathic epilepsy than controls(P=0.032, OR= 1.827,95%CI:1.008-3.313), and we also found correlation between the GG-type and risk of status epilepticus(P=0.018, OR=1.786,95%CI=1.501-2.125). Meanwhile, the frequency of GG-type of rs2279020 was significantly higher in patients with depression than patients without emotional disorder(P=0.003, OR=2.424,95%CI =1.315-4.471). We were not able to correlate the genotype with seizure frequency, duration, AEDs prescription and severity of epilepsy.Conlusion:The GG-type of GABA(A) receptor al subunit SNP rs2279020 was associated with the susceptibility of idiopathic epilepsy, risk of status epilepticus and depression.