title: Genetic association study of the HLA class II alleles DRB1, DQA1, and DQB1 in patients with pharmacoresistant temporal lobe epilepsy associated with mesial hippocampal sclerosis.
abstract: OBJECTIVE
  Temporal lobe epilepsy (TLE) is the most common variety of focal epilepsy among adults. The neuroinflammatory mechanisms of epilepsies may be involved in the genesis of seizures and refractory epilepsies, particularly in the case of progressive syndromes such as TLE associated with mesial hippocampal sclerosis (TLE-HS). The goal of the present study is investigate the genetic profile of susceptibility of individuals with TLE-HS by analyzing the possible association of TLE-HS with human leukocyte antigen (HLA) DRB1, DQA1 and DQB1 alleles.
  
  
  METHODS
  Peripheral blood samples were collected from 42 individuals with pharmacoresistant TLE-HS and 89 healthy controls. The typing of the HLA class II alleles from DRB1, DQB1, and DQA1 loci were analyzed using sequence-specific primer-polymerase chain reaction (SSP-PCR) and identified through sequencing. Statistical analysis of relative allele frequencies was performed using an Excel spreadsheet; p-value, relative risk (RR), and odds ratio (OR) were calculated using the software Epi Info 6.0. p-values <0.05 following Bonferroni's method correction were considered statistically significant.
  
  
  RESULTS
  HLA-DRB1*13:02 was the only allele with a statistically significant difference (p=0.01) in frequency between patients and controls. However, the significance was lost following Bonferroni's method correction (p=0.44). The remainder of the alleles in the HLA-DRB1, HLA-DQB1 and HLA-DQA1 regions did not exhibit any significant association.
  
  
  CONCLUSIONS
  The allele HLA DRB1*13:02 has exhibited a tendency to behave as a susceptibility factor for TLE-HS.
authors.affiliation: Federal University of Rio de Janeiro State (UNIRIO) - Postgraduation Program, Brazil.
authors.forename: Wagner G
authors.initials: WG
authors.lastname: Horta
authors.affiliation: Federal University of Rio de Janeiro State (UNIRIO) - Postgraduation Program, Brazil.
authors.forename: Eduardo
authors.initials: E
authors.lastname: Paradela
authors.affiliation: Federal University of Rio de Janeiro State (UNIRIO) - Postgraduation Program, Brazil.
authors.forename: André
authors.initials: A
authors.lastname: Figueiredo
authors.affiliation: University Hospital Clementino Fraga Filho, Federal University of Rio de Janeiro (UFRJ), Epilepsy Center, Brazil.
authors.forename: Isabella D'Andrea
authors.initials: ID
authors.lastname: Meira
authors.affiliation: University Hospital Clementino Fraga Filho, Federal University of Rio de Janeiro (UFRJ), Epilepsy Center, Brazil.
authors.forename: Valéria C Santa Rita
authors.initials: VC
authors.lastname: Pereira
authors.affiliation: Federal University of Rio de Janeiro State (UNIRIO) - Postgraduation Program, Brazil; University Hospital Clementino Fraga Filho, Federal University of Rio de Janeiro (UFRJ), Epilepsy Center, Brazil.
authors.forename: Cláudia C
authors.initials: CC
authors.lastname: Rego
authors.affiliation: Federal University of Rio de Janeiro State (UNIRIO) - Postgraduation Program, Brazil; University Hospital Clementino Fraga Filho, Federal University of Rio de Janeiro (UFRJ), Epilepsy Center, Brazil.
authors.forename: Raquel
authors.initials: R
authors.lastname: Oliveira
authors.affiliation: Federal University of Rio de Janeiro State (UNIRIO) - Postgraduation Program, Brazil.
authors.forename: Maria Emilia C
authors.initials: ME
authors.lastname: Andraus
authors.affiliation: Federal University of Rio de Janeiro State (UNIRIO) - Postgraduation Program, Brazil.
authors.forename: Glenda C Borges
authors.initials: GC
authors.lastname: de Lacerda
authors.affiliation: Federal University of Rio de Janeiro State (UNIRIO) - Postgraduation Program, Brazil.
authors.forename: Polyana
authors.initials: P
authors.lastname: Moura
authors.affiliation: Federal University of Rio de Janeiro State (UNIRIO) - Postgraduation Program, Brazil; University Hospital Clementino Fraga Filho, Federal University of Rio de Janeiro (UFRJ), Epilepsy Center, Brazil.
authors.forename: Jorge P Marcondes
authors.initials: JP
authors.lastname: de Souza
authors.affiliation: Federal University of Rio de Janeiro State (UNIRIO) - Postgraduation Program, Brazil.
authors.forename: Carmen Lucia A
authors.initials: CL
authors.lastname: Paiva
authors.affiliation: Federal University of Rio de Janeiro State (UNIRIO) - Postgraduation Program, Brazil; University Hospital Clementino Fraga Filho, Federal University of Rio de Janeiro (UFRJ), Epilepsy Center, Brazil. Electronic address: sonizavleon@pesquisador.cnpq.br.
authors.forename: Soniza V
authors.initials: SV
authors.lastname: Alves-Leon
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000069279:Drug Resistant Epilepsy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D004833:Epilepsy, Temporal Lobe / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D059848:HLA-DQ alpha-Chains / Q000235:genetics*; D059866:HLA-DQ beta-Chains / Q000235:genetics*; D059811:HLA-DRB1 Chains / Q000235:genetics*; D006624:Hippocampus / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D012598:Sclerosis; D055815:Young Adult
chemical_list: D059848:HLA-DQ alpha-Chains; D059866:HLA-DQ beta-Chains; C069050:HLA-DQA1 antigen; C069051:HLA-DQB1 antigen; D059811:HLA-DRB1 Chains
keywords: Class II HLA; HLA DR; Mesial sclerosis; Pharmacoresistant; Temporal lobe epilepsy