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Association between SCN1A polymorphism rs3812718 and valproic acid resistance in epilepsy children: a case–control study and meta-analysis
Resistance to valproic acid (VPA), a first-line antiepileptic drug (AED), is occurring at an alarming rate, particularly in children. Signal nucleotide polymorphisms are considered crucial in this process. Therefore, we investigated whether the SCN1A polymorphism rs3812718 could be associated with V...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Portland Press Ltd.
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6435549/ https://www.ncbi.nlm.nih.gov/pubmed/30413604 http://dx.doi.org/10.1042/BSR20181654 |
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author | Wang, Zhi Jian Chen, Jie Chen, Hai Liang Zhang, Lin Yan Xu, Duo Jiang, Wen Ting |
author_facet | Wang, Zhi Jian Chen, Jie Chen, Hai Liang Zhang, Lin Yan Xu, Duo Jiang, Wen Ting |
author_sort | Wang, Zhi Jian |
collection | PubMed |
description | Resistance to valproic acid (VPA), a first-line antiepileptic drug (AED), is occurring at an alarming rate, particularly in children. Signal nucleotide polymorphisms are considered crucial in this process. Therefore, we investigated whether the SCN1A polymorphism rs3812718 could be associated with VPA resistance. A total of 231 children with epilepsy who were solely administered VPA were enrolled. DNA was extracted from the peripheral blood samples and was genotyped by the Mass Array method. Furthermore, a meta-analysis was conducted between the drug responsive and resistant patients who were exposed to voltage-gated sodium channels. Results revealed that the TT genotype was associated with a higher risk of developing drug resistance (OR = 2.636, 95% CI 1.08–6.433, P = 0.033). After adjusting for the risk factors, a significant difference was still observed between the responsive and resistant groups (OR = 2.861, 95% CI 1.141–7.174, P = 0.025). Moreover, the recessive model was associated with a decreased drug resistance (OR = 0.402, 95% CI 0.167–0.968, P = 0.042) after correcting the risk factors. Meta-analysis of nine studies revealed similar results. In conclusion, our results proved that the rs3812718 TT genotype was associated with a high risk of developing drug resistance, and the recessive model could decrease the risk of VPA resistance. |
format | Online Article Text |
id | pubmed-6435549 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Portland Press Ltd. |
record_format | MEDLINE/PubMed |
spelling | pubmed-64355492019-04-12 Association between SCN1A polymorphism rs3812718 and valproic acid resistance in epilepsy children: a case–control study and meta-analysis Wang, Zhi Jian Chen, Jie Chen, Hai Liang Zhang, Lin Yan Xu, Duo Jiang, Wen Ting Biosci Rep Research Articles Resistance to valproic acid (VPA), a first-line antiepileptic drug (AED), is occurring at an alarming rate, particularly in children. Signal nucleotide polymorphisms are considered crucial in this process. Therefore, we investigated whether the SCN1A polymorphism rs3812718 could be associated with VPA resistance. A total of 231 children with epilepsy who were solely administered VPA were enrolled. DNA was extracted from the peripheral blood samples and was genotyped by the Mass Array method. Furthermore, a meta-analysis was conducted between the drug responsive and resistant patients who were exposed to voltage-gated sodium channels. Results revealed that the TT genotype was associated with a higher risk of developing drug resistance (OR = 2.636, 95% CI 1.08–6.433, P = 0.033). After adjusting for the risk factors, a significant difference was still observed between the responsive and resistant groups (OR = 2.861, 95% CI 1.141–7.174, P = 0.025). Moreover, the recessive model was associated with a decreased drug resistance (OR = 0.402, 95% CI 0.167–0.968, P = 0.042) after correcting the risk factors. Meta-analysis of nine studies revealed similar results. In conclusion, our results proved that the rs3812718 TT genotype was associated with a high risk of developing drug resistance, and the recessive model could decrease the risk of VPA resistance. Portland Press Ltd. 2018-12-18 /pmc/articles/PMC6435549/ /pubmed/30413604 http://dx.doi.org/10.1042/BSR20181654 Text en © 2018 The Author(s). http://creativecommons.org/licenses/by/4.0/This is an open access article published by Portland Press Limited on behalf of the Biochemical Society and distributed under the Creative Commons Attribution License 4.0 (CC BY) (http://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Research Articles Wang, Zhi Jian Chen, Jie Chen, Hai Liang Zhang, Lin Yan Xu, Duo Jiang, Wen Ting Association between SCN1A polymorphism rs3812718 and valproic acid resistance in epilepsy children: a case–control study and meta-analysis |
title | Association between SCN1A polymorphism rs3812718 and valproic acid resistance in epilepsy children: a case–control study and meta-analysis |
title_full | Association between SCN1A polymorphism rs3812718 and valproic acid resistance in epilepsy children: a case–control study and meta-analysis |
title_fullStr | Association between SCN1A polymorphism rs3812718 and valproic acid resistance in epilepsy children: a case–control study and meta-analysis |
title_full_unstemmed | Association between SCN1A polymorphism rs3812718 and valproic acid resistance in epilepsy children: a case–control study and meta-analysis |
title_short | Association between SCN1A polymorphism rs3812718 and valproic acid resistance in epilepsy children: a case–control study and meta-analysis |
title_sort | association between scn1a polymorphism rs3812718 and valproic acid resistance in epilepsy children: a case–control study and meta-analysis |
topic | Research Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6435549/ https://www.ncbi.nlm.nih.gov/pubmed/30413604 http://dx.doi.org/10.1042/BSR20181654 |
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