HLA-DRB1*04:05 等位基因与日本多发性硬化症患者三维双反转恢复图像上的皮质内病变有关。

HLA-DRB1*04:05 allele is associated with intracortical lesions on three-dimensional double inversion recovery images in Japanese patients with multiple sclerosis.

机构信息

Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

Department of Clinical Radiology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

出版信息

Mult Scler. 2018 May;24(6):710-720. doi: 10.1177/1352458517707067. Epub 2017 May 5.

DOI:10.1177/1352458517707067

PMID:28474969

Abstract

BACKGROUND

Cortical lesions (CLs) frequently observed in Caucasian patients with multiple sclerosis (MS) contribute to disability. However, it remains unclear whether CLs are associated with clinical features and genetic risk factors, such as HLA-DRB115:01 and -DRB104:05 in Asian MS patients.

OBJECTIVE

To elucidate the frequency of CLs and their association with HLA-DRB1 and DPB1 alleles in Japanese MS patients.

METHODS

Three-dimensional double inversion recovery imaging and clinical information were retrospectively obtained from 92 Japanese MS patients.

RESULTS

CLs of any type, intracortical lesions (ICLs), and leukocortical lesions (LCLs) were detected in 39.1%, 26.1%, and 28.3% of patients, respectively. MS patients with ICLs had a significantly higher frequency of secondary progression and greater Expanded Disability Status Scale (EDSS) scores than those without ICLs. Similar trends were observed with CLs and LCLs. The number of all three lesion types positively correlated with EDSS scores. The frequency and number of ICLs were significantly higher in HLA-DRB115:01 carriers than in HLA-DRB115:01 non-carriers, but significantly lower in HLA-DRB104:05 carriers than in HLA-DRB104:05 non-carriers. Multivariate logistic regression analysis revealed a negative association of HLA-DRB1*04:05 with ICLs.

CONCLUSION

ICLs are associated with greater disease severity in Japanese MS patients and are partly suppressed by the HLA-DRB1*04:05 allele.

摘要

背景

在白种人群多发性硬化症（MS）患者中经常观察到皮质病变（CLs），这导致残疾。然而，在亚洲 MS 患者中，CLs 是否与临床特征和遗传风险因素（如 HLA-DRB115:01 和 -DRB104:05）相关仍不清楚。

目的

阐明日本 MS 患者 CLs 的频率及其与 HLA-DRB1 和 DPB1 等位基因的关联。

方法

回顾性地从 92 名日本 MS 患者中获得三维双反转恢复成像和临床信息。

结果

任何类型的 CLs、皮质内病变（ICLs）和白质皮质病变（LCLs）在 39.1%、26.1%和 28.3%的患者中被检测到。有 ICLs 的 MS 患者的继发性进展频率和扩展残疾状态量表（EDSS）评分明显高于没有 ICLs 的患者。CLs 和 LCLs 也出现了类似的趋势。所有三种病变类型的数量与 EDSS 评分呈正相关。ICLs 的频率和数量在 HLA-DRB115:01 携带者中明显高于 HLA-DRB115:01 非携带者，但在 HLA-DRB104:05 携带者中明显低于 HLA-DRB104:05 非携带者。多变量逻辑回归分析显示 HLA-DRB1*04:05 与 ICLs 呈负相关。