中国帕金森病患者认知功能障碍与COMT基因多态性及其相关因素分析

Association of COMT gene polymorphism and related factors with cognitive impairment in Parkinson’s disease in Chinese population

目的：认知功能障碍是帕金森病（PD）患者严重的非运动症状，即使在疾病的早期也常出现。本研究旨在分析儿茶酚-O-甲基转移酶（COMT）基因多态性及其相关因素与PD认知功能障碍的关联性。方法在全国29家帕金森病研究协作医院组成的中国帕金森病研究协作组（CPSG）征集1087例PD患者，详细询问病史按照是否伴有认知功能障碍分为认知功能障碍组（385例）及非认知功能障碍组（702例），并检测COMT基因的多态性。用χ2检验及Fisher精确概率法分析比较PD认知功能障碍与COMT基因型之间的关联，并利用二分类logistic回归分析法筛选PD认知功能障碍的危险因素。结果认知功能障碍组与非认知功能障碍组相比，两组间COMT基因型及等位基因差异无统计学意义（P＞0.05）。logistic回归分析结果显示发病年龄、Hoehn-Yahr分期、PD综合评分量表（UPDRS）Ⅲ评分与认知功能障碍呈正相关，即发病年龄越大、Hoehn-Yahr分期越高、UPDRSⅢ评分越高的患者越容易发生认知功能障碍。结论 PD患者认知功能障碍与疾病严重程度及发病年龄相关。

ObjectiveCognitive impairment is one of the most serious non-motor symptoms of Parkinson’s disease （PD）,and appearseven in earlystage ofthe disease. Our studyaimed to analyze the association ofcatechol-O-methyltransferase（COMT） polymorphism and related factors with cognitive impairment in Chinese PD population.Methods A total of1087 Chinese PD patients were recruited by Chinese Parkinson Study Group（CPSG）from 29 research centers throughoutall overthe country.They were divided intocognitive impairmentgroup （n=385） and non-cognitive impairmentgroup （n=702） according totheir medical history and clinical data. COMTgenotype was sequenced.Chi-square test and Fisher’s exact test were used to analyze the association between cognitive impairment and COMT polymorphism, andbinary logistic regression modelwas used toscreen the risk factorsfor cognitive impairment.Results Therewere no significant differences in the genotype and alleleof the objective gene betweenthe two groups （P〉0.05）. Logistic regression analysis showed that age at onset, Hoehn-Yahr score, andUnified Parkinson’s Disease Rating Scale （UPDRS）Ⅲ score werepositively correlated withcognitive impairment.The PD patients with older age at onset, higher scores in Hoehn-YahrscaleandUPDRSⅢ were prone to havecognitive impairment.Conclusion Cognitive impairment is related totheage at onset and severity ofthedisease.