Association Of Glutathione S-Transferase Pi Single Nucleotide Polymorphism With Idiopathic Epilepsy

Objective:To study the frequency distribution patterns of the single nucleotide polymorphisms(SNP) at the three sites of glutathione S-transferase Pi(GST-Pi)in Chinese idiopathic epilepsy patients, including Ile105Val,Ala114Val and Asp147Tyr, and explore whether GST-Pi gene mutation is the reason that the subjects with this gene will escape the susceptibility of drug-resistant epilepsy.Method: The SNPs at the three sites( Ile105Val-2627A/G,Ala114Val- 3516C/T and Asp147Tyr-3614G/T-)of GST-Pi for drug-responsive, drug-resistant epilepsy patients and control individuals were genotyped by single allelic specific primer polymerase chain reaction (SASA-PCR).Results :The study objects include drug-responsive epilepsy patients (53 cases), drug-resistant epilepsy patients (49 cases) and normal subjects (69 cases). There was no difference about sex and age among three groups. The mutated genotype rations of the single site of GST-Pi in normal subjects are 16cases(34.78%), 12cases(17.39%), 8cases(12.31%), and 50cases(91.15%), 45cases(95.74%), 47cases(88.68%) in drug-responsive epilepsy patients and 45cases(93.75%), 35cases(83.33%),40 cases(81.63%)in drug-resistant epilepsy patients. It was founded that the mutation rates of genotypes of drug-responsive epilepsy patients and drug-resistant epilepsy patients are higher than the healthy subject and the same as allele (P<0.0001). The difference between mutation rates of GST-Pi in drug-responsive epilepsy patients and drug-resistant epilepsy patients have not statistically significance (P>0.05).There are different features of EEG between different genotypes. A situation is that two sites of three mutation, of which there are 20(21.74%) subjects in epilepsy group and 10(2.17%) subjects in control group, and the former is obviously higher than the later(P<0.0001). Another situation is that all of three sites mutated, of which there are 68(78.91%) subjects in epilepsy group, 3(6.52%) subjects in control group, and the former is obviously higher than the later (P<0.0001).The same as foregoing, 41(83.67%) subjects in drug-responsive epilepsy group and 27(62.79%) subjects in drug-resistant epilepsy group, and the former is obviously higher than the later (P<0.0001).Conclusion : The results indicate that the SNPs of GST-Pi are associated with the susceptibility of epilepsy. The individual with (or carrying) the mutated genotypes is susceptible to epilepsy, and his/her EEG is easy to present the paroxysmal abnormal. But there is no association with that whether the epilepsy patient with one mutated genotype in three sites is easy to become drug-resistant epilepsy. However, the epilepsy patient with gene mutation at multiple sites is not easy to be run to drug-resistant epilepsy.