Genome-wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug-resistant epilepsy
| Autor: | Adam Frankish, Josemir W. Sander, Ruth Williams, Sanjay M. Sisodiya, Costin Leu, Mary-Anne Leung, J. Helen Cross, Natasha E. Schoeler, Ingrid E. Scheffer, Mark T Mackay, Simona Balestrini, Charles A. Steward, Jonathan M. Mudge |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Male Linkage disequilibrium Candidate gene Drug Resistant Epilepsy Genotype Pharmacognosy International Cooperation Genome-wide association study Population stratification Bioinformatics CDYL Polymorphism Single Nucleotide Cohort Studies 03 medical and health sciences Epilepsy 0302 clinical medicine medicine Humans Genetic Predisposition to Disease genetics Child Hydro-Lyases high‐fat Glucose Transporter Type 1 business.industry Proteins Odds ratio medicine.disease low‐carbohydrate 3. Good health Minor allele frequency 030104 developmental biology Logistic Models Neurology Child Preschool Full‐length Original Research biomarker Female Neurology (clinical) business Diet Ketogenic Co-Repressor Proteins 030217 neurology & neurosurgery Genome-Wide Association Study |
| Zdroj: | Epilepsia |
| ISSN: | 1528-1167 |
| Popis: | Summary Objective With the exception of specific metabolic disorders, predictors of response to ketogenic dietary therapies (KDTs) are unknown. We aimed to determine whether common variation across the genome influences the response to KDT for epilepsy. Methods We genotyped individuals who were negative for glucose transporter type 1 deficiency syndrome or other metabolic disorders, who received KDT for epilepsy. Genotyping was performed with the Infinium HumanOmniExpressExome Beadchip. Hospital records were used to obtain demographic and clinical data. KDT response (≥50% seizure reduction) at 3‐month follow‐up was used to dissect out nonresponders and responders. We then performed a genome‐wide association study (GWAS) in nonresponders vs responders, using a linear mixed model and correcting for population stratification. Variants with minor allele frequency |
| Databáze: | OpenAIRE |
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