Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy
Juvenile myoclonic epilepsy (JME) accounts for 26% of generalized idiopathic epileptic syndromes. The highest levels of thrombin activity are closely involved in the development of neurological diseases, including epilepsy. The prothrombin c.20210G>A (rs1799963) variation, which alters prothrombi...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Academia Brasileira de Neurologia (ABNEURO)
2015-04-01
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| Series: | Arquivos de Neuro-Psiquiatria |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015000400289&lng=en&tlng=en |
| _version_ | 1819138300301017088 |
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| author | João Paulo Lopes Born Bruna Priscila dos Santos Rodrigo Secolin Fernando Tenório Gameleira Tiago Gomes de Andrade Luciana Cláudia Herculano Machado Lívia Leite Góes Gitaí Daniel Leite Góes Gitaí |
| author_facet | João Paulo Lopes Born Bruna Priscila dos Santos Rodrigo Secolin Fernando Tenório Gameleira Tiago Gomes de Andrade Luciana Cláudia Herculano Machado Lívia Leite Góes Gitaí Daniel Leite Góes Gitaí |
| author_sort | João Paulo Lopes Born |
| collection | DOAJ |
| description | Juvenile myoclonic epilepsy (JME) accounts for 26% of generalized idiopathic epileptic syndromes. The highest levels of thrombin activity are closely involved in the development of neurological diseases, including epilepsy. The prothrombin c.20210G>A (rs1799963) variation, which alters prothrombin mRNA stability, is associated with high plasma prothrombin levels. Objective : The present study was designed to investigate whether the SNP rs1799963 is a risk factor for JME in the northeastern Brazilian population. Results : The polymorphism was genotyped in 207 controls and 123 patients using polymerase chain reaction-restriction fragment length polymorphism method. No significant differences were observed in the genotype and allele frequencies of this polymorphism between cases and controls. Conclusion : These results present no evidence for an association of rs1799963 with JME. Further studies including other types of epilepsy are required to investigate the involvement of prothrombin gene in the genetic susceptibility to chronic seizure. |
| first_indexed | 2024-12-22T11:04:34Z |
| format | Article |
| id | doaj.art-24b7f32211fe43e581c2007089666743 |
| institution | Directory Open Access Journal |
| issn | 1678-4227 |
| language | English |
| last_indexed | 2024-12-22T11:04:34Z |
| publishDate | 2015-04-01 |
| publisher | Academia Brasileira de Neurologia (ABNEURO) |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj.art-24b7f32211fe43e581c20070896667432022-12-21T18:28:22ZengAcademia Brasileira de Neurologia (ABNEURO)Arquivos de Neuro-Psiquiatria1678-42272015-04-0173428929210.1590/0004-282X20150010S0004-282X2015000400289Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsyJoão Paulo Lopes BornBruna Priscila dos SantosRodrigo SecolinFernando Tenório GameleiraTiago Gomes de AndradeLuciana Cláudia Herculano MachadoLívia Leite Góes GitaíDaniel Leite Góes GitaíJuvenile myoclonic epilepsy (JME) accounts for 26% of generalized idiopathic epileptic syndromes. The highest levels of thrombin activity are closely involved in the development of neurological diseases, including epilepsy. The prothrombin c.20210G>A (rs1799963) variation, which alters prothrombin mRNA stability, is associated with high plasma prothrombin levels. Objective : The present study was designed to investigate whether the SNP rs1799963 is a risk factor for JME in the northeastern Brazilian population. Results : The polymorphism was genotyped in 207 controls and 123 patients using polymerase chain reaction-restriction fragment length polymorphism method. No significant differences were observed in the genotype and allele frequencies of this polymorphism between cases and controls. Conclusion : These results present no evidence for an association of rs1799963 with JME. Further studies including other types of epilepsy are required to investigate the involvement of prothrombin gene in the genetic susceptibility to chronic seizure.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015000400289&lng=en&tlng=enpolimorfismoprotrombinaepilepsia mioclônica juvenil |
| spellingShingle | João Paulo Lopes Born Bruna Priscila dos Santos Rodrigo Secolin Fernando Tenório Gameleira Tiago Gomes de Andrade Luciana Cláudia Herculano Machado Lívia Leite Góes Gitaí Daniel Leite Góes Gitaí Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy Arquivos de Neuro-Psiquiatria polimorfismo protrombina epilepsia mioclônica juvenil |
| title | Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy |
| title_full | Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy |
| title_fullStr | Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy |
| title_full_unstemmed | Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy |
| title_short | Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy |
| title_sort | lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy |
| topic | polimorfismo protrombina epilepsia mioclônica juvenil |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2015000400289&lng=en&tlng=en |
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