Association Study Between The Polymorphism Of Calcium Channel Genes And Drug-resistant Epilepsy In Han Chinese

Objective:To explore the association between the polymorphism of CACNA1A、CACNA1C、CACNA1H genes and resistant epilepsyMethods:The study consisted of480outpatients diagnosed with epilepsy who visited the Xiangya hospital central-south university.273patients were recruited in drug-responsive group and207patients were recruited in drug-resistant group. All clinical data were collected and the Genomic DNA was extracted from peripheral blood leukocytes of each subject by Phenol Chloroform Method. Tag single nucleotide polymorphisms (tagSNP) were selected through hapmap、Genome Variation Server (GVS) and National Center for Biotechnology Information (NCBI)databases. We selected SNPs according to a comprehensive consideration of the following criteria:1) the minor allele frequency (MAF) was more than10%in the Hapmap CHB (Chinese Han in Beijing) population;2) tag SNPs was selected by haploview in the Hapmap database.The selected SNPs had the parameters:pair-wise r2≥0.83) the SNPs had validated functions in the promoter, exons, splice sites of introns or3’-untranslated region (3’-UTR). All the tagSNP were genotyped by VeraCode GoldenGate Genotyping Assay system and the data were analyzed by SPSS20.0. Apply SHEsis software to analyze linkage disequilibrium.Results:We detected19tagSNPs of CACNA1A、CACNA1C、 CACNA1H genes. SNP rs12813888of CACNA1C is not suitable for the gene chip detection.1. The total18SNPs distribution in the population of patients with epilepsy accord with Hardy-weinberg equilibrium2. Genotypes distributions in the7SNPs of CACNA1A were not statistically different between the drug-responsive and drug-resistant groups3. Genotypes distributions in the5SNPs of CACNA1C were not statistically different between the drug-responsive and drug-resistant groups4. Genotypes distributions in the6SNPs of CACNA1H were not statistically different between the drug-responsive and drug-resistant groups5. linkage disequilibrium exists between the rs11640354and rs9922076of CACNA1H (D’=0.79)Conclusion:1.There is no relationship between the18SNPs of CACNA1A、CACNA1C、CACNA1H genes and drug-resistant epilepsy in Han chinese;2.There is linkage disequilibrium between rs11640354and rs9922076of CACNA1H...