RGD Reference Report - [HLA-DRB1 typing in Caucasians patients with neuromyelitis optica.] - Rat Genome Database

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[HLA-DRB1 typing in Caucasians patients with neuromyelitis optica.]

Authors: Blanco, Y  Ercilla-Gonzalez, G  Llufriu, S  Casanova-Estruch, B  Magraner, MJ  Ramio-Torrenta, L  Mendibe-Bilbao, MM  Ucles-Sanchez, AJ  Casado-Chocan, JL  Lopez de Munain, A  Ramo-Tello, C  Santos-Lasaosa, S  Fernandez-Bolanos Porras, R  Segura-Bruna, N  Sepulveda-Gazquez, M  Villoslada, P  Graus, F  Saiz, A 
Citation: Blanco Y, etal., Rev Neurol. 2011 Aug 1;53(3):146-152.
RGD ID: 5147590
Pubmed: PMID:21748712   (View Abstract at PubMed)

INTRODUCTION. 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. SUBJECTS AND 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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
H2-Eb1Mouseneuromyelitis optica  ISOHLA-DRB1 (Homo sapiens)DNA:polymorphism (human)RGD 
HLA-DRB1Humanneuromyelitis optica  IAGP DNA:polymorphism (human)RGD 
RT1-Db1Ratneuromyelitis optica  ISOHLA-DRB1 (Homo sapiens)DNA:polymorphism (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
RT1-Db1  (RT1 class II, locus Db1)

Genes (Mus musculus)
H2-Eb1  (histocompatibility 2, class II antigen E beta)

Genes (Homo sapiens)
HLA-DRB1  (major histocompatibility complex, class II, DR beta 1)


Additional Information