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| 鞘脂代谢相关基因HEXB和ASAH1在帕金森病患者中的表达水平及其临床意义 |
| Expression Levels and Clinical Significance of Sphingolipid Metabolism-Related Genes HEXB and ASAH1 in Patients with Parkinson’s disease |
| 投稿时间：2025-04-17 |
| DOI：10.3969/j.issn.1000-0399.2025.12.002 |
| 中文关键词: 帕金森病 β-氨基己糖苷酶B亚基 N-酰基鞘氨醇酰胺水解酶1 鞘脂代谢 |
| 英文关键词: Parkinson’s disease HEXB ASAH1 Sphingolipid metabolism Clinical significance |
| 基金项目:安徽省临床医学研究转化专项项目(编号:202204295107020024); 合肥市卫生健康委应用医学研究项目(编号:Hwk2021zd003); 蚌埠医科大学2024年度研究生创新计划135项资助立项项目(编号:Byycx24082) |
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| 中文摘要: |
| 目的 探讨鞘脂代谢相关基因HEXB和ASAH1在帕金森病（PD）患者中的表达水平及其临床意义。方法 选取2024年3月至2025年1月合肥市第一人民医院南区收治的40例PD患者为PD组，选取同期40例体检健康者为对照组。收集两组患者一般资料及生化指标，采用实时荧光定量聚合酶链反应（qRT-PCR）测定所有受试者外周血HEXB和ASAH1表达水平；通过logistic回归分析PD发生的危险因素；采用受试者工作特征（ROC）曲线下面积（AUC）评估两基因对PD的诊断价值。收集PD组的H-Y分期、运动障碍学会-统一PD评定量表第三部分（MDS-UPDRSⅢ）的评分、汉密尔顿焦虑量表（HAMA）及17项汉密尔顿抑郁量表（HAMD-17）评分，按H-Y分期分为早期PD亚组（1～2.5期，n=21）和中晚期PD亚组（3～5期，n=19）；采用Pearson或Spearman相关分析外周血HEXB和ASAH1水平与PD患者部分临床资料的相关性。结果 PD组高密度脂蛋白（HDL-C）、HEXB及ASAH1水平高于对照组，三酰甘油（TG）水平低于对照组（P<0.05）;Logistic回归分析结果显示，HEXB(OR=2.122,95%CI:1.051～4.284,P=0.036)和ASAH1(OR=3.670,95%CI:1.594～8.447,P=0.002)水平升高是PD的危险因素。ROC曲线分析结果表明，HEXB、ASAH1单独及两者联合诊断PD的曲线下面积（AUC）分别为0.764、0.811及0.853。中晚期PD亚组的HEXB和ASAH1水平高于早期PD亚组（P<0.05）；相关性分析结果显示，HEXB与40例PD患者H-Y分期（r=0.386,P<0.05）、MDS-UPDRSⅢ评分（r=0.454,P<0.05）、HAMA评分（r=0.522,P<0.05）及HAMD-17评分（r=0.458,P<0.05）呈正相关；ASAH1与H-Y分期（r=0.474,P<0.05）及MDS-UPDRSⅢ评分（r=0.372,P<0.05）呈正相关。结论 鞘脂代谢相关基因HEXB和ASAH1在PD患者中表达上调，其表达水平与PD诊断相关，且可在一定程度上反映PD的严重程度。 |
| 英文摘要: |
| Objective To investigate the expression levels and clinical significance of sphingolipid metabolism-related genes HEXB and ASAH1 in patients with Parkinson’s disease（PD）. Methods Forty PD patients admitted to the South District of Hefei First People’s Hospital, Anhui Province, from March 2024 to January 2025 were enrolled in the PD group, with 40 healthy individuals examined during the same period served as the control group. Baseline characteristics and biochemical parameters of the two groups were collected. The expression levels of HEXB and ASAH1 in peripheral blood were determined using quantitative real-time polymerase chain reaction（qRT-PCR）. Risk factors for the development of PD were analyzed using logistic regression; the diagnostic value of the two genes for PD was evaluated by the area under the receiver operating characteristic curve（AUC）. Data were collected on the H-Y staging scale, the Movement Disorder Society-Unified Parkinson’s Disease Rating Scale Part Ⅲ（MDS-UPDRS Ⅲ） scores, the Hamilton Anxiety Scale（HAMA） scores, and the 17-item Hamilton Depression Scale（HAMD-17） scores in the PD group. PD patients were stratified into early-stage（stages 1-2.5, n=21） and mid-to-late-stage（stages 3-5, n=19） subgroups based on standard H-Y criteria. Pearson or Spearman correlation analysis was performed to assess the correlations between peripheral blood levels of HEXB and ASAH1 and specific clinical parameters in patients with PD. Results Compared with the control group, the PD group showed significantly higher levels of HDL-C, HEXB, and ASAH1（all P ＜0.05） and a significantly lower level of TG（P ＜0.05）. Logistic regression analysis revealed that elevated expression of HEXB（OR=2.122, 95%CI: 1.051～4.284, P=0.036） and ASAH1（OR=3.670, 95%CI: 1.594～8.447, P=0.002） were risk factors for PD. ROC curve analysis showed that the AUCs for HEXB, ASAH1 alone, and their combination in diagnosing PD were 0.764, 0.811, and 0.853, respectively. The expression levels of HEXB and ASAH1 in the mid-to-latestage subgroup were significantly higher than those in the early-stage subgroup（both P ＜0.05）. Correlation analysis indicated that in 40 PD patients, HEXB expression was positively correlated with H-Y stage（r=0.386, P ＜0.05）, MDS-UPDRS Ⅲ score（r=0.454, P ＜0.05）, HAMA score（r=0.522, P ＜0.05）, and HAMD-17 score（r=0.458, P ＜0.05）; ASAH1 expression was positively correlated with H-Y stage（r=0.474, P ＜0.05） and MDS-UPDRS Ⅲ score（r=0.372, P ＜0.05）. Conclusion Sphingolipid metabolism-related genes HEXB and ASAH1 are upregulated in PD patients. Their expression levels are associated with PD diagnosis and can partially reflect disease severity. |
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