The role of KCNJ10 gene polymorphisms in childhood epilepsy

Objective: We aimed to investigate whether there is any relation between epilepsy types and intractable epilepsy with KCNJ10 gene polymorphisms in childhood epilepsy. Investigations of functions of polymorphisms in these genes can provide valuable information for further studies about diagnosis, treatment, pathogenesis of childhood epilepsy and may give new ideas about preventing this disease.Patients and Methods: This study was performed with 400 children which 200 children were in patient group and 200 children were healty group. Age, gender, mental retardation situation, intractable epilepsy situation and subtypes of epilepsy of all patients were recorded. Firstly DNA extraction was done from blood samples of all children. KCJN10 gene regions were proliferated by PCR method. Sequences which have single nucleotide polymorphism (SNP) have determined for each gene region after lining up procedure for DNA.Results: We found statistically significant relationship between G/T genotype of KCNJ10 gene in SNP3 region in patient group (p=0.037, OR=1,599). Altough we found that frequency of G/T genotype of KCNJ10 gene in SNP3 region was statistically increased in tonic clonic febrile convülsiyon patient (p=0.0015, OR=2,4). We also found that T allel was statistically increased in tonic clonic febril convülsiyon patient (p=0.0158, OR=1.752). There is a relationship found between mental retardation and male gender (p=0.046). We found no statistically significant relationship between KCNJ10 gene in SNP1 ve SNP2 region with epilepsy.Conclusion: We consider that G/T genotype has a probably role on tendency to epilepsy and T allel on tendency to tonic clonic febrile convülsiyon in childhood epilepsy.Keywords: Child, Epilepsy, Genotype, Intractable.