Prasad, D.K.V.Shaheen, U.Satyanarayana, U.Prabha, T.S.Jyothy, A.Munshi, A.2018-07-142024-08-142018-07-142024-08-142014Prasad, D. K. V., Shaheen, U., Satyanarayana, U., Prabha, T. S., Jyothy, A., & Munshi, A. (2014). Association of GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with the development of idiopathic generalized epilepsy. Epilepsy Research, 108(8), 1267-1273. doi: 10.1016/j.eplepsyres.2014.07.001920121110.1016/j.eplepsyres.2014.07.001http://10.2.3.109/handle/32116/1244The idiopathic generalized epilepsy (IGE) is a neurological disorder which accounts for approximately 30% of all epilepsy cases. Patients identified with IGE syndromes have pharmacoresponsive epilepsies without abnormal neurological symptoms, structural brain lesions and are of unknown origin. A genetic etiology to IGEs has been proposed. Gamma amino butyric acid (GABA), a major inhibitory neurotransmitter acts by binding to transmembrane GABAA and GABAB receptors of both pre- and postsynaptic neurons. Synapsin II (SynII), a neuron specific phosphoprotein plays a major role in synaptogenesis and neurotransmitter release. The present study was carried out with an aim to evaluate the association of GABRA6 (rs3219151) T>C and Syn II (rs37733634) A>G gene polymorphisms with IGE. Molecular analysis revealed that the frequency of 'CC' genotype and 'C'allele of GABRA6 (rs3219151) T>C gene polymorphism was significantly higher in IGE patients compared to healthy controls [CC vs. TT, ?2=26; p<0.001; Odds ratio=3.6 (95% CI; 2.1-5.9); C vs T, ?2=24.7; p<0.001; Odds ratio=1.78 (95% CI; 1.4-2.2)]. The frequency of 'GG' genotype and 'G' allele of the intronic polymorphism A>G in Syn II gene was also found to be significantly associated with the disease when compared to controls [GG vs AA, ?2=64.52; p<0.001; Odds ratio=7.37 (95% CI; 4.4-12.3); G vs. A, ?2=65.78; p<0.001; Odds ratio=2.57 (95% CI; 2.0-3.2)]. The generalized multifactor dimensionality reduction method was employed to detect gene-gene interactions. The gene-gene interaction at two loci involving GABRA6 and Syn II revealed a significant association [?2=36.6, p<0.001, Odds ratio=3.17 (95% CI; 2.2-4.6)] with IGE. Therefore, the present study clearly indicates that both GABRA6 (rs3219151) T>C and Syn II (rs37733634) A>G polymorphisms are important risk factors for the development of IGE in the South Indian population from Andhra Pradesh. The gene-gene interaction studies demonstrated significant interactive effects of these two loci in the development of the disease. ? 2014 Elsevier B.V.en4 Aminobutyric Acid A Receptor Alpha6AdenineCytosineDnaGuanineSynapsin IiThymine4 Aminobutyric Acid A ReceptorGabra6 Protein, HumanSynapsinAgedAlleleChildControlled StudyDna IsolationFemaleGabra6 GeneGene FrequencyGene InteractionGene LocusGeneralized EpilepsyGenetic AnalysisGenetic AssociationGenetic PolymorphismGenotypeHumanIndianIntronMajor Clinical StudyMaleMultifactor Dimensionality ReductionPathogenesisPolymerase ChaiArticlehttps://www.sciencedirect.com/science/article/pii/S0920121114001934?via%3Dihub