title: Lack of association between the prothrombin rs1799963 polymorphism and juvenile myoclonic epilepsy.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Instituto de Ciências Biológicas e da Saúde, Universidade Federal de Alagoas, Maceió, AL, Brazil.
authors.forename: João Paulo Lopes
authors.initials: JP
authors.lastname: Born
authors.affiliation: Instituto de Ciências Biológicas e da Saúde, Universidade Federal de Alagoas, Maceió, AL, Brazil.
authors.forename: Bruna Priscila dos
authors.initials: BP
authors.lastname: Santos
authors.affiliation: Departamento de Genética Médica, Universidade de Campinas, Campinas, SP, Brazil.
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Secolin
authors.affiliation: Universidade Federal de Alagoas, Arapiraca, AL, Brazil.
authors.forename: Fernando Tenório
authors.initials: FT
authors.lastname: Gameleira
authors.affiliation: Universidade Federal de Alagoas, Arapiraca, AL, Brazil.
authors.forename: Tiago Gomes de
authors.initials: TG
authors.lastname: Andrade
authors.affiliation: Departamento de Histologia, Instituto de Ciências Biológicas e da Saúde, Universidade Federal de Alagoas, Maceió, AL, Brazil.
authors.forename: Luciana Cláudia Herculano
authors.initials: LC
authors.lastname: Machado
authors.affiliation: Faculdade de Medicina, Universidade Federal de Alagoas, Maceió, AL, Brazil.
authors.forename: Lívia Leite Góes
authors.initials: LL
authors.lastname: Gitaí
authors.affiliation: Departamento de Biologia Celular Molecular e Genética, Instituto de Ciências Biológicas e da Saúde, Universidade Federal de Alagoas, Maceió, AL, Brazil.
authors.forename: Daniel Leite Góes
authors.initials: DL
authors.lastname: Gitaí
mesh_terms: D000293:Adolescent; D001938:Brazil / Q000208:ethnology; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000208:ethnology; D005820:Genetic Testing; D006801:Humans; D016014:Linear Models; D008297:Male; D020190:Myoclonic Epilepsy, Juvenile / Q000097:blood / Q000208:ethnology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011516:Prothrombin / Q000032:analysis / Q000235:genetics*; D012016:Reference Values; D012307:Risk Factors
chemical_list: D011516:Prothrombin