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Relapsing neuromyelitis optica is not associated with the HLA DR2 haplotype in a Brazilian cohort from Rio de Janeiro

Introduction: The association between susceptibility to MS and class II alleles of the major histocompatibility complex (MHC) is well established in MS patients but not in NMOR. The ethnicity has an important role in MS HLA DQ and DR profile. Brazilian population has ethnic particularities with a high mixed African and Caucasian Mediterranean population. We previously demonstrated the association of HLA-DR2 in white Brazilians MS patients from Rio de Janeiro. Here we analyze the HLA DQ and DR haplotypes in NMOR patients with from the same population. Methods: 64 NMOR patients (Afro: 41, white:23) attended in Hospital da Lagoa (Rio de Janeiro, Brazil) were selected for the study and genotyped for the DQA1, DQB1 and DRB1 loci. The results were compared with 106 MS patients and 103 healthy controls. Anti-AQP4 positive and negative subgroups were compared. Results: No association was found between NMOR and the extended haplotype DRB1*1501 DQA1*0102 DQB1*0602 or its alleles, neither in the total group nor in white and Afro Brazilian subgroups. White NMOR and MS patients differ concerning this haplotype (p=0.001). There were no differences in AQP4 positive subgroup compared to the AQP4 negative. Conclusion: This is the first study that definitely showed the lack of association of the HLA DR2 in NMO. This observation reinforces the distinction between NMO and MS.

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