title: Lack of association between rs211037 of the GABRG2 gene and juvenile myoclonic epilepsy in Brazilian population.
abstract: BACKGROUND
  Juvenile myoclonic epilepsy (JME) is an idiopathic generalized epilepsy syndrome with genetic basis and accounts for 10% of all forms of epilepsy. Despite the existence of rare mutations responsible for some familial forms inherited in a Mendelian pattern, the genetics of JME is complex and probably involves multiple genes. Because of widespread distribution in the central nervous system (CNS) and their ability to produce postsynaptic inhibition, GABA (A) receptor subunits (GABRs) encoding genes represent high ranking candidates for epilepsy susceptibility.
  
  
  OBJECTIVE
  This case/control study was designed to investigate whether the rs211037 of the GABRG2 gene is a risk factor for JME in the Brazilian population.
  
  
  METHODS
  The polymorphism was genotyped in 98 patients and 130 controls using polymerase chain reaction-restriction fragment length polymorphism method. Descriptive and statistical analyses were performed using SNP stat software.
  
  
  RESULTS
  Genotype proportions and allele frequencies for the rs211037 polymorphism of the GABARG2 gene did not differ significantly between the groups, even when the odds ratio was adjusted for clinical variables.
  
  
  CONCLUSIONS
  These results present no evidence for an association of rs211037 with JME. Further studies are required to investigate the involvement of the GABRG2 gene in the genetic susceptibility to this epileptic syndrome.
authors.affiliation: Department of Cell, Molecular Biology, Institute of Biological Sciences and Health, AL, Brazil.
authors.forename: Lívia Leite Góes
authors.initials: LL
authors.lastname: Gitaí
authors.forename: Delma Holanda
authors.initials: DH
authors.lastname: de Almeida
authors.forename: João Paulo Lopes
authors.initials: JP
authors.lastname: Born
authors.forename: Fernando Tenório
authors.initials: FT
authors.lastname: Gameleira
authors.forename: Tiago Gomes
authors.initials: TG
authors.lastname: de Andrade
authors.forename: Luciana Cláudia Herculano
authors.initials: LC
authors.lastname: Machado
authors.forename: Daniel Leite Góes
authors.initials: DL
authors.lastname: Gitaí
mesh_terms: D000293:Adolescent; D000328:Adult; D001938:Brazil; D016009:Chi-Square Distribution; D002648:Child; D002675:Child, Preschool; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D020190:Myoclonic Epilepsy, Juvenile / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D011963:Receptors, GABA-A / Q000235:genetics*; D055815:Young Adult
chemical_list: C546279:GABRG2 protein, human; D011963:Receptors, GABA-A