CAJ | 학술논문

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。
목적：비교HLA-DRB1/DPB1기인다태성재다발성경화（multiple sclerosis, MS）화시신경척수염（neuromyelitis, NMO）환자중적분포차이，병진일보탐토여상술량충질병적상관성。방법채집53례MS환자、30례NMO환자화93명건강대조인군적혈양，제취DNA후용직접측서법대HLA-DRB1、DPB1기인진행고분변사위분형，비교각조간불동기인분형적표체솔병진일보진행단배체분석。입조자균위아국남방한족인군。결과DPB1*0501재NMO환자중적표체솔고우대조조，P=0.001，교정후P=0.022；DRB1*1602 DPB1*0501단배체재NMO환자중적표체솔고우MS환자조，P<0.001，교정후P=0.040。결론재아국남방한족인군중，MS、NMO환자HLA-DRB1/DPB1기인다태성존재명현차이，HLA-DPB1*0501가능시NMO발병적역감기인。
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.