在来自里约热内卢的巴西患者中，无论其NMO-IgG状态如何，HLA DRB1*03:01等位基因都与视神经脊髓炎（NMO）相关。
The HLA DRB1*03:01 allele is associated with NMO regardless of the NMO-IgG status in Brazilian patients from Rio de Janeiro.
作者信息
Alvarenga M P, Fernandez O, Leyva L, Campanella L, Vasconcelos C F, Alvarenga M, Papais Alvarenga R M
机构信息
Neurology Department, Hospital Federal da Lagoa, Rio de Janeiro, Brazil; Neurology Department, UNIRIO, Rio de Janeiro, Brazil.
Instituto de Investigación Biomédica de Málaga (IBIMA), Hospital Regional Universitario de Málaga, Spain.
出版信息
J Neuroimmunol. 2017 Sep 15;310:1-7. doi: 10.1016/j.jneuroim.2017.05.018. Epub 2017 May 31.
The aim of this study was to analyze the HLA class II alleles in neuromyelitis optica (NMO) and MS patients from Rio de Janeiro to clarify whether the pattern of genetic predisposition in NMO is different from the one seen in MS or whether it is possible to determine specific alleles of susceptibility or resistance. The DR3 haplotype was over represented in NMO while the DR15 was over represented in MS. The HLA-DRB1*03:01 allele was associated with NMO regardless the NMO-IgG status but did not influence the long term disability. The comparison of the allele and haplotype frequencies significantly discriminated patients with NMO vs. MS.
本研究的目的是分析来自里约热内卢的视神经脊髓炎（NMO）和多发性硬化症（MS）患者的人类白细胞抗原（HLA）II类等位基因，以阐明NMO的遗传易感性模式是否与MS不同，或者是否有可能确定易感性或抗性的特定等位基因。DR3单倍型在NMO中过度表达，而DR15在MS中过度表达。HLA-DRB1*03:01等位基因与NMO相关，无论NMO-IgG状态如何，但不影响长期残疾。等位基因和单倍型频率的比较显著地区分了NMO患者和MS患者。
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