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目的:从分子水平探讨帕金森病(Parkinson disease,PD)发病的民族差异性,从而为新疆维吾尔族和汉族PD患者的病因、诊断及治疗的研究提供科学的理论根据。方法:选择维吾尔族PD患者3例,汉族PD患者3例,对照组4例(其中维吾尔族2例,汉族2例),取维吾尔族和汉族PD患者血液白细胞中提取的RNA作为实验组,对照组血液白细胞中提取的RNA作为对照组,应用Axon Gene Pix 4000B基因表达谱芯片,筛选出2次实验上下调一致的差异基因。结果与健康对照组相比,维吾尔族PD外周血中差异表达3倍以上,获得差异基因18个,其中上调9个,下调9个;汉族PD组获得差异基因10个,其中上调8个,下调2个。维吾尔族PD和汉族PD组获得差异基因5个,3个上调,2个下调。KEGG Pathway分析显示,涉及神经递质释放、细胞吞噬、凋亡,T细胞受体信号通路的改变等有统计学意义。结论:新疆地区汉族和维吾尔族PD患者的发病存在民族差异性,维吾尔族PD的差异基因相对汉族多,可能是维吾尔族PD患病率相对较高的遗传学原因,维吾尔族PD患者T细胞受体信号通路、趋化因子信号通路富集度更高,提示维吾尔族PD发病与炎症反应相关,这可能为维吾尔族PD患者的治疗提供靶点。
Objective: To explore the national differences in the pathogenesis of Parkinson disease (PD) at the molecular level and to provide a scientific theoretical basis for the study of the etiology, diagnosis and treatment of PD in Xinjiang Uygur and Han nationality. Methods: Three cases of Uygur PD, three cases of PD in Han, four cases of control group (including 2 cases of Uyghur and 2 cases of Han) were selected. The RNA extracted from blood leukocytes from Uygur and Han PD patients was used as the experimental group. RNA extracted from blood leukocytes was used as a control group, and Axon Gene Pix 4000B gene expression profiling chip was used to screen two differentially regulated genes. Results Compared with healthy controls, Uighur PD had more than 3-fold differential expression in peripheral blood and 18 differentially expressed genes were found, of which 9 were up-regulated and 9 down-regulated. In Han Chinese PD group, 10 differentially expressed genes were found, of which 8 were up-regulated 2. The Uygur PD and Han PD groups obtained 5 differential genes, 3 up-regulated and 2 down-regulated. KEGG Pathway analysis showed statistically significant changes related to neurotransmitter release, phagocytosis, apoptosis, and changes in T cell receptor signaling pathways. Conclusion: There are ethnic differences in the incidence of PD among Han and Uygur nationalities in Xinjiang Uygur ethnic PD relative to Han ethnicity may be the genetic reason for the relatively high prevalence of PD in Uigur ethnic. The T cell population of Uygur PD patients Body signal pathway and chemotactic signal pathway enrichment, suggesting that the incidence of Uygur PD and inflammatory reaction-related, which may provide a target for the treatment of Uygur PD patients.