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Índice >> Revista de Neurología (Volumen 53  Núm 3) >> HLA-DRB1 typing in Caucasians patients with neurom...

HLA-DRB1 typing in Caucasians patients with neuromyelitis optica imprimir
Original Castellano   English
[REV NEUROL 2011;53:146-152] PMID: 21748712 - Original - Date of publication: 01/08/2011
Y. Blanco, G. Ercilla-González, S. Llufriu, B. Casanova-Estruch, M.J. Magraner, Ll. Ramió-Torrentà, M.M. Mendibe-Bilbao, A.J. Uclés-Sánchez, J.L. Casado-Chocán, A. López de Munain, C. Ramo-Tello, S. Santos-Lasaosa, R. Fernández-Bolaños Porras, N. Segura-Bruna, M. Sepúlveda, P. Villoslada, F. Graus, A. Saiz
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 back­ground 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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Blanco Y
Ercilla-Gonzalez G
Llufriu S
Casanova-Estruch B
Magraner MJ
Ramio-Torrenta Ll
Mendibe-Bilbao MM
Ucles-Sanchez AJ
Casado-Chocan JL
Lopez de Munain A
Ramo-Tello C
Santos-Lasaosa S
Fernandez-Bolaños Porras R
Segura-Bruna N
Sepulveda M
Villoslada P
Graus F
Saiz A
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Aquaporin-4
Genetics
HLA typing
Multiple sclerosis
Neuromyelitis optica
NMO-IgG
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Keywords:  Aquaporin-4 - Genetics - HLA typing - Multiple sclerosis - Neuromyelitis optica - NMO-IgG
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