HLA-DRB1基因型与北方汉族多发性硬化易感性的研究

目的 探讨人类白细胞抗原(HLA)-DRB1基因型与中国北方汉族多发性硬化(MS)的关联.方法 应用序列特异性引物-聚合酶链反应(PCR-SSP)技术检测58例中国北方汉族MS患者及63名健康对照者的HLA-DRB1基因型分布;同时将MS患者分为西方型MS和视神经脊髓炎(NMO)两亚组,对其DR4和DR15基因频率进行比较.结果 与对照组比较,MS患者DR15和DR4等位基因频率显著升高(分别为P=0.025,P=0.003);此外,NMO亚组DR4频率显著高于西方型MS(P=0.013).结论 我国北方汉族人MS与HLA-DRB1等位基因的关联与西方人群有所不同,DR15可能是MS的易感基因,而DR4则可能为我国汉族人NMO的易感基因.关联基因的差异可能是导致东西方MS病变部位不同的原因.

HLA-DRB1 Genotype and Susceptibility to Multiple Sclerosis in Chinese Northern Han Race

Objective To explore the correlation between multiple sclerosis in Chinese Northern Han population and the polymorphism of HLA-DRB1.Methods The HLA-DRB1 gene polymorphism and allele frequencies of 58 patients in Chinese Northern Han population and 63 normal controls were determined by PCR-SSP.Meanwhile,total MS patients were further divided into West-MS and neuromyelitis optica(NMO)subgroups,in order to compare the differences of DR4 or DR15 allele frequencies between these two subgroups.Results Compared with the controls,there was an increase of both alleles frequency of DR15(P=0.025)and DR4(P=0.003)in MS patients.In addition,stratification analysis showed a higher allele distribution of DR4 in patients with NMO(P=0.013)than in patients with West-MS.Conclusions The association of HLA DRB1 alleles with Chinese Northern Han MS is remarkably different from Western population.This may in part lead to the different lesions distribution between the Western and Chinese MS.The DR15 may be the susceptibility gene of MS,while the DR4 could be the susceptibility gene of Chinese NMO.