title: [HLA-DRB1 typing in Caucasians patients with neuromyelitis optica].
abstract: BACKGROUND
  The existence of antibodies to aquaporin-4 (AQP-4-ab) has identified neuromyelitis optica (NMO) and multiple sclerosis (MS) as different diseases. Although HLA-DRB1 alleles contribute to MS risk, recent studies suggest that HLA back-ground differs between patients with NMO or MS in non-Caucasians populations. Our study was aimed to analyze HLA-DRB1 distribution in Caucasians NMO patients.
  
  
  METHODS
  We recruited a cohort of 22 NMO patients (73% were AQP-4-ab positive), 228 MS patients and 225 healthy controls from Spain and we genotyped the HLA-DRB1 locus. Then, we performed a pool analysis using reported data from 45 NMO patients (53% were AQP-4-ab positive), 156 MS patients and 310 healthy controls from Caucasian French population.
  
  
  RESULTS
  In the Spanish cohort, NMO was associated with increased frequency of DRB1*10 allele compared with MS (odds ratio, OR = 15.1; 95% confidence interval, 95% CI = 3.26-69.84; p = 0.012). In the pooled analysis, by comparison with healthy controls, NMO was associated with increased frequency of DRB1*03 allele (OR = 2.27; 95% CI = 1.44-3.58; p < 0.0008) which was related to AQP-4-ab seropositivity (OR = 2.74; 95% CI = 1.58-4.77; p < 0.0008). By contrast, MS was associated with increased frequency of DRB1*15 allele (OR = 2.09; 95% CI = 1.62-2.68; p < 0.0008) and decreased frequency of DRB1*07 allele (OR = 0.58; 95% CI = 0.44-0.78; p < 0.0008).
  
  
  CONCLUSIONS
  Caucasian patients with NMO and MS have a different HLA-DRB1 allelic distribution. DRB1*03 allele seems to contribute to NMO seropositivity. Multicenter collaborative efforts are needed to adequately address the genetic contribution to NMO susceptibility.
authors: Servicio de Neurología, Hospital Clínicm, Barcelona, España.
authors: Y
authors: Y
authors: Blanco
authors: G
authors: G
authors: Ercilla-González
authors: S
authors: S
authors: Llufriu
authors: B
authors: B
authors: Casanova-Estruch
authors: M J
authors: MJ
authors: Magraner
authors: Ll
authors: L
authors: Ramió-Torrentá
authors: M M
authors: MM
authors: Mendibe-Bilbao
authors: A J
authors: AJ
authors: Uclés-Sánchez
authors: J L
authors: JL
authors: Casado-Chocán
authors: A
authors: A
authors: López de Munain
authors: C
authors: C
authors: Ramo-Tello
authors: S
authors: S
authors: Santos-Lasaosa
authors: R
authors: R
authors: Fernández-Bolaños Porras
authors: N
authors: N
authors: Segura-Bruna
authors: M
authors: M
authors: Sepulveda-Gázquez
authors: P
authors: P
authors: Villoslada
authors: F
authors: F
authors: Graus
authors: A
authors: A
authors: Saiz
mesh_terms: D000483:Alleles; D051401:Aquaporin 4 / Q000235:genetics / Q000276:immunology; D015331:Cohort Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006684:HLA-DR Antigens / Q000235:genetics* / Q000276:immunology; D059811:HLA-DRB1 Chains; D006801:Humans; D009103:Multiple Sclerosis / Q000235:genetics / Q000276:immunology; D009471:Neuromyelitis Optica / Q000235:genetics* / Q000276:immunology*; D013030:Spain; D044465:White People / Q000235:genetics*
chemical_list: D051401:Aquaporin 4; D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains