The Association Analysis of GPNMB rs156429 With Clinical Manifestations in Chinese Population With Parkinson's Disease
The Association Analysis of GPNMB rs156429 With Clinical Manifestations in Chinese Population With Parkinson's Disease
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GPNMBrs156429与中国帕金森病人群临床表现的关联分析
DOI：
10.3389/fgene.2020.00952
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发表时间：
2020-09-02
影响因子：
3.7
通讯作者：
Tan, Yuyan
中科院分区：
文献类型：
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作者：
Liu, Jin;Li, Gen;Tan, Yuyan
背景：帕金森病（Parkinson 'sdisease，PD）的发病机制涉及复杂的遗传因素。新发现的风险基因在不同种族中的作用有待进一步验证。在一项两阶段荟萃分析中，据报道糖蛋白非转移性黑色素瘤蛋白B（GPNMB）中rs 156429的单核苷酸多态性（SNP）与PD相关。到目前为止，临床研究主要集中在rs 156429与PD发作之间的关联，但很少有证据表明rs 156429与PD症状有关。目的：探讨GPNMBrs 156429与中国东南部人群PD临床表现的关系。方法：收集511例PD患者的人口统计学变量、疾病相关因素以及运动和非运动评估。采用聚合酶链反应（PCR）和SNaPshot技术检测GPNMBrs 156429。分别采用Kruskal-Wallis检验和Logistic回归模型分析rs 156429与PD评分及临床表现的关系。结果：Kruskal-Wallis检验和逻辑回归模型未能揭示GPNMBrs 156429与蒙特利尔认知评估（莫卡）评分（p= 0.037;校正后p= 1.000）和511例PD患者疼痛症状之间的相关性（p= 0.008，OR = 0.59，95%CI = 0.40-0.87，校正后显性模型;校正后p= 0.168，校正后显性模型）。然而，基于性别的进一步分析显示，GPNMBr 156429可能有与女性PD患者而非男性患者的认知功能障碍（简易精神状态检查（MMSE），校正后p= 0.064;莫卡，校正后p= 0.064）和疼痛症状（校正后p= 0.063，校正后过度显性模型）相关的趋势。结论：GPNMBrs 156429可能与中国东南部女性PD患者的认知功能障碍和疼痛症状相关。需要更大样本量的进一步研究来证实这些发现。
Background:The mechanisms of Parkinson's disease (PD) include complicated genetic factors. The roles of newly found risk genes need to be further verified among different ethnicities. In a two-stage meta-analysis, single nucleotide polymorphism (SNP) of rs156429 in glycoprotein non-metastatic melanoma protein B (GPNMB) was reported to be associated with PD. So far clinical studies have focused on association between rs156429 and PD onset, however there is little evidence linking rs156429 with PD symptoms. Objective:This study aimed to investigate the possible association ofGPNMBrs156429 with PD manifestations among southeastern Chinese people. Methods:Demographic variables, disease-related factors, and motor and non-motor assessments of 511 PD patients were collected. Polymerase chain reaction (PCR) and SNaPshot technique were used to detectGPNMBrs156429. The associations of rs156429 with PD rating scales and clinical manifestations were analyzed by Kruskal-Wallis test and logistic regression model separately. Results:Kruskal-Wallis test and logistic regression model failed to reveal an association betweenGPNMBrs156429 and scores from Montreal Cognitive Assessment (MoCA) (p= 0.037;p= 1.000 after correction), and pain symptoms of 511 PD patients (p= 0.008, OR = 0.59, 95% CI = 0.40-0.87, overdominant model after adjustment;p= 0.168 after correction, overdominant model after adjustment). However, further analysis based on genders showed thatGPNMBrs156429 might have a trend for being associated with cognitive dysfunction (Mini-Mental State Examination (MMSE),p= 0.064 after correction; MoCA,p= 0.064 after correction) and pain symptoms (p= 0.063 after correction, overdominant model after adjustment) in female PD patients but not male patients. Conclusions:This study revealed thatGPNMBrs156429 might have a trend for being associated with cognitive dysfunction and pain symptoms of female PD patients in the southeastern Chinese population. Further studies from a larger sample size are needed to confirm these findings.