PO039 Gwas for early remission in newly diagnosed focal epilepsy
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY(2017)
摘要
Rationale Focal epilepsy is the most frequent form of epilepsy in adults. Several pharmacogenomic studies have already interrogated factors associated with treatment response in newly diagnosed epilepsy, but there are no large scale GWAS in newly diagnosed focal epilepsy. Here we report results of a GWAS performed for an early remission after application of the first well tolerated anticonvulsant. Methods Our research cohort was created as a part of EpiPGX study, which was an EU funded collaborative Europe wide epilepsy pharmacogenomics study. It included retrospective and prospective historical cohorts from Glasgow, the UK-wide SANAD trial and Melbourne. Results In total 935 cases were included. GWAS was performed with and without adjustment for significant clinical factors established by a prior logistic regression. There were no SNPs with genome-wide significant association, but 45 SNPs had genome-wide suggestive p-values in the univariate analysis and 37 SNPs in the adjusted analysis. Two SNPs (rs4077084 and rs753796) had suggestive p-values in both analyses. The SEL1L3 gene had separate intronic hits in both adjusted and univariate analyses. Conclusions This GWAS represents the largest pharmacogenomic cohort reported in focal epilepsy. Results indicate a requirement for further studies with improved methodology and usage of new genomic technologies.
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