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Conference Paper: Voltage gated sodium channel gene polymorphisms are associated with epilepsy

TitleVoltage gated sodium channel gene polymorphisms are associated with epilepsy
Authors
KeywordsMedical sciences
Psychiatry and neurology
Issue Date2013
PublisherWiley-Blackwell Publishing, Inc.. The Journal's web site is located at http://www.epilepsia.com/
Citation
The 30th International Epilepsy Congress, Montreal, Canada, 23-27 June 2013. In Epilepsia, 2013, v. 54 suppl. 3, p. 343, abstract no. LBP1090 How to Cite?
AbstractPURPOSE: High frequency action potentials are mediated by voltage-gated sodium channels, composed of one large a subunit and two small β subunits, encoded mainly by SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B genes in the CNS. Since mutations of these can cause certain genetic epilepsy syndromes, we investigated whether polymorphisms in these genes may affect epilepsy risk in general. METHOD: Epilepsy patients and control subjects from Hong Kong and Kuala Lumpur were matched in age, sex and ethnicity. Epilepsy was broadly classified based on ILAE criteria. Blood was withdrawn for DNA extraction. Using Haploview, we tagged the five genes with 43 polymorphisms: 27 in Hong Kong, 28 in Malaysia, and 12 in both locations. Polymorphisms were genotyped by Sequenom Mass Array. RESULTS: The study included 1529 epilepsy patients (mean+/-SD age: 35 +/- 16 years) and 1935 control subjects (34 +/- 16 years) from four ethnic groups or locations: Malay, Indian, and Chinese, all from Malaysia, and Chinese from Hong Kong (the latter comprising 54% of patients and 44% of controls). Of patients, 19% were idiopathic, 42% symptomatic, and 40% cryptogenic. The strongest association with epilepsy was rs3812718, or SCN1A IVS5N+5G>A, odds ratio (OR) = 0.85 for allele G (p = 0.0009) and 0.73 for genotypes GG vs. AA (p = 0.003). The association was consistent across ethnicities. Allele G is known to affect splicing and to speed recovery from inactivation. Since SCN1A is preferentially expressed in inhibitory neurons, G may decrease epilepsy risk. SCN1A rs10188577 displayed OR = 1.20 for allele C (p = 0.003); SCN2A rs12467383 had OR = 1.16 for allele A (p = 0.01), and displayed LD with rs2082366 (r2 = 0.67), whose genotypes tended toward association with SCN2A brain expression (p = 0.10). SCN1A rs2298771 was associated with epilepsy in Indians (OR = 0.56, p = 0.005). SCN2B rs602594 was associated with idiopathic epilepsy (OR = 0.62, p = 0.002). CONCLUSION: Common genetic variants in neuronal sodium channel genes are associated with the risk of epilepsy.
DescriptionThis journal suppl. entitled: Special Issue: 30th International Epilepsy Congress, Montreal, Canada, 23-27 June 2013
Late Breaking Abstracts: LBP1090
Persistent Identifierhttp://hdl.handle.net/10722/198202
ISSN
2015 Impact Factor: 4.706
2015 SCImago Journal Rankings: 2.579

 

DC FieldValueLanguage
dc.contributor.authorBaum, Len_US
dc.contributor.authorHaerian, BSen_US
dc.contributor.authorNg, HKen_US
dc.contributor.authorWong, Ven_US
dc.contributor.authorNg, PWen_US
dc.contributor.authorLui, CHTen_US
dc.contributor.authorSin, NCen_US
dc.contributor.authorZhang, Cen_US
dc.contributor.authorTomlinson, Ben_US
dc.contributor.authorWong, WKGen_US
dc.contributor.authorWong, KSen_US
dc.contributor.authorTan, HJen_US
dc.contributor.authorRaymond, AAen_US
dc.contributor.authorMohamed, Zen_US
dc.contributor.authorKwan, Pen_US
dc.date.accessioned2014-06-25T02:54:31Z-
dc.date.available2014-06-25T02:54:31Z-
dc.date.issued2013en_US
dc.identifier.citationThe 30th International Epilepsy Congress, Montreal, Canada, 23-27 June 2013. In Epilepsia, 2013, v. 54 suppl. 3, p. 343, abstract no. LBP1090en_US
dc.identifier.issn0013-9580-
dc.identifier.urihttp://hdl.handle.net/10722/198202-
dc.descriptionThis journal suppl. entitled: Special Issue: 30th International Epilepsy Congress, Montreal, Canada, 23-27 June 2013-
dc.descriptionLate Breaking Abstracts: LBP1090-
dc.description.abstractPURPOSE: High frequency action potentials are mediated by voltage-gated sodium channels, composed of one large a subunit and two small β subunits, encoded mainly by SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B genes in the CNS. Since mutations of these can cause certain genetic epilepsy syndromes, we investigated whether polymorphisms in these genes may affect epilepsy risk in general. METHOD: Epilepsy patients and control subjects from Hong Kong and Kuala Lumpur were matched in age, sex and ethnicity. Epilepsy was broadly classified based on ILAE criteria. Blood was withdrawn for DNA extraction. Using Haploview, we tagged the five genes with 43 polymorphisms: 27 in Hong Kong, 28 in Malaysia, and 12 in both locations. Polymorphisms were genotyped by Sequenom Mass Array. RESULTS: The study included 1529 epilepsy patients (mean+/-SD age: 35 +/- 16 years) and 1935 control subjects (34 +/- 16 years) from four ethnic groups or locations: Malay, Indian, and Chinese, all from Malaysia, and Chinese from Hong Kong (the latter comprising 54% of patients and 44% of controls). Of patients, 19% were idiopathic, 42% symptomatic, and 40% cryptogenic. The strongest association with epilepsy was rs3812718, or SCN1A IVS5N+5G>A, odds ratio (OR) = 0.85 for allele G (p = 0.0009) and 0.73 for genotypes GG vs. AA (p = 0.003). The association was consistent across ethnicities. Allele G is known to affect splicing and to speed recovery from inactivation. Since SCN1A is preferentially expressed in inhibitory neurons, G may decrease epilepsy risk. SCN1A rs10188577 displayed OR = 1.20 for allele C (p = 0.003); SCN2A rs12467383 had OR = 1.16 for allele A (p = 0.01), and displayed LD with rs2082366 (r2 = 0.67), whose genotypes tended toward association with SCN2A brain expression (p = 0.10). SCN1A rs2298771 was associated with epilepsy in Indians (OR = 0.56, p = 0.005). SCN2B rs602594 was associated with idiopathic epilepsy (OR = 0.62, p = 0.002). CONCLUSION: Common genetic variants in neuronal sodium channel genes are associated with the risk of epilepsy.en_US
dc.languageengen_US
dc.publisherWiley-Blackwell Publishing, Inc.. The Journal's web site is located at http://www.epilepsia.com/-
dc.relation.ispartofEpilepsiaen_US
dc.subjectMedical sciences-
dc.subjectPsychiatry and neurology-
dc.titleVoltage gated sodium channel gene polymorphisms are associated with epilepsyen_US
dc.typeConference_Paperen_US
dc.identifier.emailWong, V: vcnwong@hku.hken_US
dc.identifier.authorityWong, V=rp00334en_US
dc.description.naturelink_to_OA_fulltext-
dc.identifier.doi10.1111/epi.12248-
dc.identifier.hkuros229133en_US
dc.identifier.volume54en_US
dc.identifier.issuesuppl. 3-
dc.identifier.spage343, abstract no. LBP1090en_US
dc.identifier.epage343, abstract no. LBP1090en_US
dc.publisher.placeUnited States-
dc.customcontrol.immutablesml 150204-

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