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

多发性硬化症（MS）是目前假设介导的自身反应性T细胞对髓鞘抗原。在日本，MS经常和选择性地影响视神经和脊髓。我们以前曾报道过，HLA-DRB 1 ^*1501-DRB 5 ^*0101单倍型与多发性硬化（CMS）易感性相关，而HLA-DPA 1 ^*0202-DPB 1 ^*0501与视脊髓MS（OSMS）易感性相关。我们研究了34例中国MS患者（CMS;21例，OSMS+NMO;13例）和35例巴西NMO患者的HLA-DRB 1和-DPB 1多态性。由于样本量小，我们没有发现任何HLA等位基因与疾病的相关性。此外，我们分析了与日本MS患者特征性MRI表现相关的HLA II类基因等位基因（CMS;71，OSMS;50）。患者首先根据是否存在符合Barkhof标准的脑部病变进行分类，然后根据是否存在LESCL分为四组：Barkhof（+）LESCL（+），Bakhof（+）LESCL（-），Barkhof（-）LESCL（+）和Barkhof（-）LESCL（-）。Barkhof（-）组HLA-DRB 1 ^*0901频率明显低于对照组（HC 28.3%vs.Total MS 8.3%，P^<corr>&lt;0.05），而Barkhof（+）组DRB 1 ^*1501频率明显高于对照组（HC 15.0%vs.Barkhof（+）MS 30.0%，P^<uncorr>&lt;0.05）。Barkhof（-）LESCL（-）组DRB 1 ^*0405显著高于对照组（HC 26.7%vs.Barkhof（-）/LESCL（-）MS 62.5%，P^<corr>&lt;0.05）。DPB 1 ^* 0501等位基因频率在Barkhof（-）LESCL（+）组中最高（HC 62.5%vs.Barkhof（-）/LESCL（+）MS 79.3%，P^<uncorr>&lt;0.05）。日本MS患者的特征性MRI特征部分与不同的HLA-II类基因等位基因相关。

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.