TMEM175基因多态性与帕金森病及其非运动症状相关性研究  

Association between TMEM175 gene polymorphisms and Parkinson's disease and its non-motor symptoms

作　　者：任芳丽 周旭[1] 马伊萱 张展 杨新玲[1] REN Fangli;ZHOU Xu;MA Yixuan(Department of Neurology,The Second Affiliated Hospital of Xinjiang Medical University,Urumqi 830063,China)

机构地区：[1]新疆医科大学第二附属医院神经内科,乌鲁木齐830063

出　　处：《医师在线》2025年第3期3-7,共5页Journal of Doctors Online

基　　金：国家自然科学基金面上项目(82371258)。

摘　　要：目的探讨溶酶体跨膜蛋白175基因(TMEM175基因)rs34311866和rs34884217两个单核苷酸多态性(SNP)位点与帕金森病(PD)患病风险及其非运动症状的关系。方法选取2023年12月~2024年8月于新疆医科大学第二附属医院就诊的61例PD患者和同期60例健康对照者,分别纳入病例组和对照组。使用多个量表评估PD患者的运动症状和非运动症状,采用Sanger测序检测所有受试者TMEM175基因SNP位点的基因频率和等位基因频率。结合测序结果与先前研究,采用显性遗传模型,深入分析TMEM175基因SNP位点与PD非运动症状的潜在联系。结果rs34311866和rs34884217的基因型、等位基因、显性模型及超显性模型在病例组和对照组之间存在显著差异(P<0.05)。PD患者rs34311866位点中,TT型占70.49%,TC/CC型占29.51%,病例组和对照组比较,差异具有统计学意义[OR=3.767,95%CI(1.376~10.313),P=0.007<0.05]。PD患者rs34884217位点中,AA型占96.72%,CA/CC型占3.28%,病例组和对照组比较,差异具有统计学意义[OR=0.169,95%CI(0.035~0.810),P=0.014<0.05]。在显性模型下,rs34311866位点TC/CC型与TT型PD患者的简易精神状态检查量表(MMSE)评分、蒙特利尔认知评估量表(MoCA)评分和香港中文大学快速眼动睡眠行为障碍量表(RBDQ-HK)评分差异显著,其余评分差异均无统计学意义;rs34884217位点CA/CC型与AA型PD患者的一般资料及各量表之间差异均无统计学意义(P>0.05)。结论TMEM175基因rs34311866位点携带C等位基因会增加PD患病风险,rs34884217位点携带C等位基因则降低PD患病风险。rs34311866位点携带C等位基因的患者更易发生认知障碍和快速眼动睡眠期行为障碍。Objective To investigate the association between two single nucleotide polymorphisms(SNPS)of lysosomal transmembrane protein 175 gene(TMEM175 gene)-rs34311866 and rs34884217-and the risk of Parkinson's disease(PD)as well as its non-motor symptoms.Methods A total of 61 PD patients and 60 healthy controls in the Second Affiliated Hospital of Xinjiang Medical University from December 2023 to August 2024 were included in the case group and the control group,respectively.The motor symptoms and non-motor symptoms of PD patients were evaluated using multiple scales,and the genotype frequency and allele frequency of the SNP locus of the TMEM175 gene were detected by Sanger sequencing in all subjects.Combined with the sequencing results and previous studies,the dominant genetic model was used to further analyze the potential association between the SNP locus of TMEM175 gene and the non-motor symptoms of PD.Results The genotype,allele,dominant model and hyper-dominant model of rs34311866 and rs34884217 were significantly different between the case group and the control group(P<0.05).Among rs34311866 locus in PD patients,TT genotype accounted for 70.49%and TC/CC genotype accounted for 29.51%,and the difference between case group and control group was statistically significant[OR=3.767,95%CI(1.376~10.313),P=0.007<0.05].Among rs34884217 locus in PD patients,AA genotype accounted for 96.72%and AC/CC genotype accounted for 3.28%,and the difference between case group and control group was statistically significant[OR=0.169,95%CI(0.035~0.810),P=0.014<0.05].In the dominant model,there were significant differences in Mini-mental state examination(MMSE)scores,Montreal cognitive assessment(MoCA)scores and Rapid eye movement(REM)sleep behavior disorder questionnaire-Hong Kong version(RBDQ-HK)scores between TC/CC genotype and TT genotype patients at rs34311866 locus,while the differences in other scores were not statistically significant.There was no significant difference in the demographic characteristics or scores of various scales

关 键 词：帕金森病 溶酶体跨膜蛋白175基因 单核苷酸多态性 非运动症状 溶酶体功能障碍 

分 类 号：R74[医药卫生—神经病学与精神病学]