多发性硬化与视神经脊髓炎患者的基A-DRB1/DPB1因多态性

The polymorphism of HLA-DRB1/DPB1 in multiple sclerosis and optica neuromyelitis patients

目的比较HLA-DRB1/DPB1基因多态性在多发性硬化(multiple sclerosis,MS)和视神经脊髓炎(neuromyelitis,NMO)患者中的分布差异,并进一步探讨与上述两种疾病的相关性。方法采集53例MS患者、30例NMO患者和93名健康对照人群的血样,提取DNA后用直接测序法对HLA-DRB1、DPB1基因进行高分辨四位分型,比较各组间不同基因分型的表达率并进一步进行单倍体分析。入组者均为我国南方汉族人群。结果DPB1*0501在NMO患者中的表达率高于对照组,P=0.001,校正后P=0.022;DRB1*1602 DPB1*0501单倍体在NMO患者中的表达率高于MS患者组,P<0.001,校正后P=0.040。结论在我国南方汉族人群中,MS、NMO患者HLA-DRB1/DPB1基因多态性存在明显差异,HLA-DPB1*0501可能是NMO发病的易感基因。

Objective To explore the role of the polymorphism of HLA-DRB1/DPB1 in patients with multiple scle-rosis （MS） and optica neuromyelitis （NMO）. Methods Fifty-three patients with MS, 30 patients with NMO and 93 normal controls were enrolled in the present study. The HLA-DRB1/DPB1 gene polymorphism and allele frequencies were deter-mined by sequencing-based typing. All the subjects were Southern Han Chinese and were born in Southern China. Re-sults The frequencies of DPB1＊0501 were higher in NMO patients than in controls, P=0.001, P （corrected）=0.022. The frequencies of DRB1＊1602 DPB1＊0501 haplotype were higher in NMO patients than in MS patients, P〈0.001,P （cor-rected）=0.040. Conclusions There is significant difference in HLA-DRB1/DPB1 gene polymorphism between MS and NMO patients in a Southern Han Chinese population. The HLA-DPB1＊0501 allele might be the susceptibility gene poly-morphism of NMO.