ASSOCIATION OF POLYMORPHISMS IN NR1I 2 AND ABCB1 GENES WITH EPILEPSY TREATMENT RESPONSES
Resource
PHARMACOGENOMICS v.8 n.9 pp.1151-1158
Journal
PHARMACOGENOMICS
Journal Volume
v.8
Journal Issue
n.9
Pages
1151-1158
Date Issued
2007
Date
2007
Author(s)
Hung, Chin-Chuan
Tai, John Jen
Kao, Pi-Ju
Lin, Min-Shung
Liou, Horng-Huei
Abstract
Objectives: The aim of this study was to investigate whether
the polymorphisms in the NR112 and ABCB1 genes were
associated with epilepsy treatment responses. Methods &
results: NR112 and ABCB1 polymorphisms were genotyped in 114
drug-resistant epileptic patients, 213 seizure-free
patients and 287 normal controls. Highly specific real-time
PCR was applied to detect the variants by using TaqMan
allelic specific probe. For a single gene test, it was
demonstrated that 3435C>T in the ABCB1 gene had a
significant effect on epilepsy treatment responses, but
polymorphisms in the NR112 gene did not. Further analysis
using a logistic regression model revealed that only 2677G>T
and 3435C>T in the ABCB1 gene and their interaction term
were associated with drug-resistant epilepsy after
adjustment for etiology and epilepsy classification. In the
present study, the polymorphisms in the NR112 gene were not
significantly associated with epilepsy treatment responses.
Conclusion: Our results indicated that 2677G>T and 3435C > T
in the ABCB1 gene contributed to drug-resistant epilepsy.
Although biologically plausible, the polymorphisms in NR112
investigated in the present study did not play a role in
epilepsy treatment responses. Other unveiled genetic
variants in the NR112 gene that may have the potential to
affect ABCB1 gene expression are worth further investigation
in future studies.
Subjects
ABCB1
drug
response
intractable epilepsy
multidrug resistance
pharmacogenetics
PXR
Type
journal article