ABCB1 p.Gln158Lys
| Predicted by SNAP2: | A: D (63%), C: D (63%), D: D (71%), E: D (71%), F: D (71%), G: D (66%), H: N (53%), I: D (71%), K: N (66%), L: D (63%), M: N (93%), N: D (59%), P: D (80%), R: D (75%), S: D (59%), T: D (66%), V: D (71%), W: D (75%), Y: D (71%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: N, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Association of polymorphisms in NR1I2 and ABCB1 ge... Pharmacogenomics. 2007 Sep;8(9):1151-8. Hung CC, Jen Tai J, Kao PJ, Lin MS, Liou HH
Association of polymorphisms in NR1I2 and ABCB1 genes with epilepsy treatment responses.
Pharmacogenomics. 2007 Sep;8(9):1151-8., [PMID:17924830]
Abstract [show]
OBJECTIVES: The aim of this study was to investigate whether the polymorphisms in the NR1I2 and ABCB1 genes were associated with epilepsy treatment responses. METHODS & RESULTS: NR1I2and 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 NR1I2 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 NR1I2 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 NR1I2 investigated in the present study did not play a role in epilepsy treatment responses. Other unveiled genetic variants in the NR1I2 gene that may have the potential to affect ABCB1 gene expression are worth further investigation in future studies.
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58 Primers and probes of Q158K were as follows: • Forward primer: 5´GGAGCAGCGGATGAT GATCAG3´ • Reverse primer: 5´GGGAGAAGGTAGTGT CAAAGGTTT3´ • Reporter 1 (VIC): 5´ATGGACGCTCAGAT GA3´ • Reporter 2 (FAM): 5´ATGGACGCTAAGA TGA3´ Genotypes of ABCB1 1236C>T, 2677G>T and 3435C>T were identified by PCR-restriction fragment length polymorphism (RFLP) in the previous study [11].
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ABCB1 p.Gln158Lys 17924830:58:22
status: NEW