SCN1A IVS5N+5 polymorphism and response to sodium valproate: A multicenter study

Batoul Sadat Haerian; Larry Baum; Hui Jan Tan; Patrick Kwan; Azman Ali Raymond; Junji Saruwatari; Kazuko Nakagawa; Zahurin Mohamed

doi:10.2217/pgs.12.127

SCN1A IVS5N+5 polymorphism and response to sodium valproate: A multicenter study

Batoul Sadat Haerian, Larry Baum, Hui Jan Tan, Patrick Kwan, Azman Ali Raymond, Junji Saruwatari, Kazuko Nakagawa, Zahurin Mohamed

Research output: Contribution to journal › Article › Research › peer-review

16 Citations (Scopus)

Abstract

Aim: Approximately 30% of epilepsy patients do not response to antiepileptic drugs (AEDs). The functional SCN1A IVS5N+5 polymorphism may play a role in response to some AEDs. The purpose of this study was to examine this hypothesis in a cohort study of Malaysian and Hong Kong Chinese epilepsy patients on sodium valproate (VPA) monotherapy and in a meta-analysis. Patients & methods: The SCN1A IVS5N+5 polymorphism was genotyped in 583 Malaysian (84%) and Hong Kong Chinese (16%) epilepsy patients receiving VPA monotherapy. The related association studies, including the current study, were meta-analyzed by using fixed- and random-effects models under various genetic models. Results: A total of 277 (47.5%) and 306 (52.5%) patients were VPA nonresponsive and responsive, respectively. Unlike Chinese and Indian patients, Malay nonresponsive patients with idiopathic generalized epilepsy showed significant association, probably caused by the small sample size. Conclusion: The cohort study and meta-analysis did not demonstrate an association between AED responsiveness and this polymorphism. Future studies with a larger sample size of Malays with idiopathic generalized epilepsy are suggested. Original submitted 15 June 2012; Revision submitted 23 July 201.

Original language	English
Pages (from-to)	1477-1485
Number of pages	9
Journal	Pharmacogenomics
Volume	13
Issue number	13
DOIs	https://doi.org/10.2217/pgs.12.127
Publication status	Published - 1 Oct 2012
Externally published	Yes

Keywords

alternative splicing
epilepsy
meta-analysis
polymorphism
SCN1A
sodium valproate

Access to Document

10.2217/pgs.12.127

Link to publication in Scopus

Cite this

@article{147adafb80e04b6abaa836a3d371ceee,

title = "SCN1A IVS5N+5 polymorphism and response to sodium valproate: A multicenter study",

abstract = "Aim: Approximately 30% of epilepsy patients do not response to antiepileptic drugs (AEDs). The functional SCN1A IVS5N+5 polymorphism may play a role in response to some AEDs. The purpose of this study was to examine this hypothesis in a cohort study of Malaysian and Hong Kong Chinese epilepsy patients on sodium valproate (VPA) monotherapy and in a meta-analysis. Patients & methods: The SCN1A IVS5N+5 polymorphism was genotyped in 583 Malaysian (84%) and Hong Kong Chinese (16%) epilepsy patients receiving VPA monotherapy. The related association studies, including the current study, were meta-analyzed by using fixed- and random-effects models under various genetic models. Results: A total of 277 (47.5%) and 306 (52.5%) patients were VPA nonresponsive and responsive, respectively. Unlike Chinese and Indian patients, Malay nonresponsive patients with idiopathic generalized epilepsy showed significant association, probably caused by the small sample size. Conclusion: The cohort study and meta-analysis did not demonstrate an association between AED responsiveness and this polymorphism. Future studies with a larger sample size of Malays with idiopathic generalized epilepsy are suggested. Original submitted 15 June 2012; Revision submitted 23 July 201.",

keywords = "alternative splicing, epilepsy, meta-analysis, polymorphism, SCN1A, sodium valproate",

author = "Haerian, {Batoul Sadat} and Larry Baum and Tan, {Hui Jan} and Patrick Kwan and Raymond, {Azman Ali} and Junji Saruwatari and Kazuko Nakagawa and Zahurin Mohamed",

year = "2012",

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doi = "10.2217/pgs.12.127",

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SCN1A IVS5N+5 polymorphism and response to sodium valproate : A multicenter study. / Haerian, Batoul Sadat; Baum, Larry; Tan, Hui Jan; Kwan, Patrick; Raymond, Azman Ali; Saruwatari, Junji; Nakagawa, Kazuko; Mohamed, Zahurin.

In: Pharmacogenomics, Vol. 13, No. 13, 01.10.2012, p. 1477-1485.

Research output: Contribution to journal › Article › Research › peer-review

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AU - Haerian, Batoul Sadat

AU - Baum, Larry

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AU - Kwan, Patrick

AU - Raymond, Azman Ali

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AU - Nakagawa, Kazuko

AU - Mohamed, Zahurin

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N2 - Aim: Approximately 30% of epilepsy patients do not response to antiepileptic drugs (AEDs). The functional SCN1A IVS5N+5 polymorphism may play a role in response to some AEDs. The purpose of this study was to examine this hypothesis in a cohort study of Malaysian and Hong Kong Chinese epilepsy patients on sodium valproate (VPA) monotherapy and in a meta-analysis. Patients & methods: The SCN1A IVS5N+5 polymorphism was genotyped in 583 Malaysian (84%) and Hong Kong Chinese (16%) epilepsy patients receiving VPA monotherapy. The related association studies, including the current study, were meta-analyzed by using fixed- and random-effects models under various genetic models. Results: A total of 277 (47.5%) and 306 (52.5%) patients were VPA nonresponsive and responsive, respectively. Unlike Chinese and Indian patients, Malay nonresponsive patients with idiopathic generalized epilepsy showed significant association, probably caused by the small sample size. Conclusion: The cohort study and meta-analysis did not demonstrate an association between AED responsiveness and this polymorphism. Future studies with a larger sample size of Malays with idiopathic generalized epilepsy are suggested. Original submitted 15 June 2012; Revision submitted 23 July 201.

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