Potential role of GABA(A) receptor subunit; GABRA6, GABRB2 and GABRR2 gene polymorphisms in epilepsy susceptibility and pharmacotherapy in North Indian population

作者：Kumari Ritu; Lakhan Ram; Kalita J; Garg R K; Misra U K; Mittal Balraj^*

来源：Clinica Chimica Acta, 2011, 412(13-14): 1244-1248.

DOI：10.1016/j.cca.2011.03.018

• GABA(A) receptor
• Drug resistance
• Polymorphism
• Antiepileptic drugs

Background: GABA(A) receptors influence the susceptibility to seizures, and variations in the receptor genes can contribute to antiepileptic drug resistance also.
Methods: We investigated the possible associations of single nucleotide polymorphisms (SNPs) present in GABRA6 c. 1512 T>C. GABRB2 c. 1412 C>T, and GABRR2 c. IVS2C>G genes of GABA(A) receptors in epilepsy susceptibility and drug resistance in northern Indian patients with epilepsy. After screening a total of 202 healthy controls and 401 epilepsy patients were enrolled in study. The genotyping was done by PCR-RFLP methods.
Results: The GABRA6 c. 1512 T>C, polymorphism was conferring risk for epilepsy susceptibility for TC (P=0.018), CC (P=0.0001) genotype and for C allele (P=0.0002). Another polymorphism GABRB2 c. 1412 C>T was also conferring high risk for epilepsy susceptibility CT (P=0.012), TT (P=0.778) genotype and for variant T allele (P=0.034) but was not associated with drug resistance. No association was found with epilepsy susceptibility or with drug resistance in case of GABRR2 c. IVS2C>G gene polymorphism.
Conclusion: Overall, our findings suggest significant involvement of alpha (GABRA6) and beta (GABRB2) subunits of GABA(A) receptor in epilepsy susceptibility in north Indian population.

• 出版日期2011-6-11
• 单位河北医科大学