rs12204701 - KU-MEL-3 - PSMC1P11
Magnitude 4.5 · 1 study on file
Reported associations
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Genome‐wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug‐resistant epilepsy Genome‐wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug‐resistant epilepsy - Unknown journal (n.d.) · Unknown authors · PubMed 30009487
ABSTRACT: 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
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
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rs12204701 A allele and ketogenic diet therapy efficacy Moderate
The A allele at rs12204701 is associated with reduced seizure control in response to ketogenic dietary therapy for drug-resistant epilepsy, with an odds ratio of 13.5 for poor response