HLA class II polymorphism and worldwide susceptibility to optico-spinal multiple sclerosis.

多发性硬化症（MS）目前被假设是由自身反应性T细胞介导的髓磷脂抗原。在日本，多发性硬化症经常和选择性地影响视神经和脊髓。我们之前报道过，对常规多发性硬化症（CMS）的易感性与HLA-DRB1^*1501-DRB5^*0101单倍型相关，而对光学脊髓多发性硬化症（OSMS）的易感性与HLA-DPA1^*0202-DPB1^*0501相关。我们研究了34名中国MS患者（CMS， 21名，OSMS+NMO， 13名）和35名巴西NMO患者的HLA-DRB1和dpb1多态性。由于样本量小，我们没有发现HLA等位基因与疾病的任何关联。此外，我们分析确定了与日本多发性硬化症患者特征性MRI表现发展相关的HLA II类基因等位基因（CMS;71，OSMS;50）。首先根据是否存在符合Barkhof标准的脑病变，再根据是否存在lescl分为4组；Barkhof (+) LESCL (+), Bakhof LESCL (+) (-), Barkhof (-) LESCL(+)和Barkhof (-) LESCL(-)。Barkhof（-）组患者HLA-DRB1^*0901表达频率明显低于对照组（HC 28.3% vs Total MS 8.3%, P^<corr> <0.05），而Barkhof（+）组患者HLA-DRB1^* 1501表达频率明显高于对照组（HC 15.0% vs Barkhof(+) MS 30.0%, P^<uncorr><0.05）。Barkhof(-) LESCL（-）组DRB1^*0405较对照组显著升高(HC为26.7%,Barkhof（-)/LESCL(-)MS为62.5%,P^< corbb0 <0.05）。DPB1^* 0501等位基因频率在Barkhof(-) LESCL（+）组最高(HC为62.5%,Barkhof（-)/LESCL(+) MS为79.3%,P^< uncorp <0.05）。日本多发性硬化症患者的特征性MRI特征部分与不同的hla II类基因等位基因有关。

Multiple sclerosis (MS) is currently hypothesized to be mediated by autoreactive T cells against myelin antigens. In Japanese, MS frequently and selectively affects the optic nerve and spinal cord. We have previously reported that susceptibility to the conventional multiple sclerosis (CMS) is associated with the HLA-DRB1^*1501-DRB5^*0101 haplotype while susceptibility to the optico-spinal MS (OSMS) is associated with HLA-DPA1^*0202-DPB1^*0501. We studied HLA-DRB1 and-DPB1 polymorphisms in 34 Chinese patients with MS (CMS;21,OSMS+NMO;13) and 35 Brazilian NMO patients. We did not find any association of HLA alleles with disease due to the small sample size.Furthermore, we analyzed to determine HLA class II gene alleles associated with the development of characteristic MRI findings in Japanese MS patients (CMS;71,OSMS;50). The patients were firstly classified by the presence or absence of brain lesions fulfilling the Barkhof criteria and then by the presence or absence of LESCLs into four groups ; Barkhof(+) LESCL(+), Bakhof(+) LESCL(-), Barkhof(-) LESCL(+) and Barkhof(-) LESCL(-). The Barkhof (-) patients had markedly lower frequency of HLA-DRB1^*0901 than the controls (HC 28.3% vs. Total MS 8.3%, P^<corr> <0.05) while that of DRB1^*1501 was increased in the Barkhof (+) group (HC 15.0% vs.Barkhof(+) MS 30.0%, P^<uncorr><0.05). The Barkhof(-) LESCL(-) group showed a significant increase of DRB1^*0405,compared with the controls (HC 26.7% vs.Barkhof(-)/LESCL(-)MS 62.5%, P^<corr><0.05). The frequency of the DPB1^* 0501 allele was highest in the Barkhof(-) LESCL(+) group (HC 62.5% vs.Barkhof(-)/LESCL(+) MS 79.3%, P^<uncorr><0.05). Characteristic MRI features in Japanese MS patients are partly related to the distinct HLA-class II gene alleles.