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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.
Pubmed: (View Article at PubMed) PMID:21748712

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.


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CRRD Object Information
CRRD ID: 5147590
Created: 2011-08-12
Species: All species
Last Modified: 2011-08-12
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.