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Evidence for epistatic interactions in antiepileptic drug resistance

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Author(s)
Myeong-Kyu KimJason H MooreJong-Ki KimKi-Hyun ChoYong-Won ChoYo-Sik KimMin-Cheol LeeYoung-Ok KimMin-Ho Shin
Keimyung Author(s)
Cho, Yong Won
Department
Dept. of Neurology (신경과학)
Journal Title
Journal of Human Genetics
Issued Date
2011
Volume
56
Issue
1
Keyword
drug resistanceepilepsyepistasispharmacogenetics
Abstract
To investigate the epistatic interactions involved in antiepileptic drug (AED) resistance, 26 coding single-nucleotide polymorphisms (SNPs) were selected from 16 candidate genes. A total of 200 patients with drug-resistant localization-related epilepsy and 200 patients with drug-responsive localization-related epilepsy were genotyped individually for the SNPs. Rather than using the traditional parametric statistical method, a new statistical method, multifactor dimensionality reduction (MDR), was used to determine whether gene–gene interactions increase the risk of AED resistance. The MDR method indicated that a combination of four SNPs (rs12658835 and rs35166395 from GABRA1, rs2228622 from EAAT3 and rs2304725 from GAT3) was the best model for predicting susceptibility to AED resistance with a statistically significant testing accuracy of 0.625 (P<0.001) and cross-validation consistency of 10/10. This best model had an odds ratio of 3.68 with a significant 95% confidence interval of 2.32–5.85 (P<0.0001). Our results may provide meaningful information on the mechanism underlying AED resistance and, to the best of our knowledge, this is the first report of evidence for gene–gene interactions underlying AED resistance.
Keimyung Author(s)(Kor)
조용원
Publisher
School of Medicine
Citation
Myeong-Kyu Kim et al. (2011). Evidence for epistatic interactions in antiepileptic drug resistance. Journal of Human Genetics, 56(1), 71–76. doi: 10.1038/jhg.2010.151
Type
Article
ISSN
1434-5161
Source
http://www.nature.com/articles/jhg2010151
DOI
10.1038/jhg.2010.151
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/34052
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Neurology (신경과학)
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