LRRK2 G2385R variant carriers of female Parkinson's disease are more susceptible to motor fluctuation
LRRK2 G2385R variant carriers of female Parkinson's disease are more susceptible to motor fluctuation
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女性帕金森病的LRRK2 G2385R变异携带者更容易受到运动波动的影响
DOI：
10.1007/s00415-013-7086-9
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发表时间：
2013-11-01
影响因子：
6
通讯作者：
He, Zhi-Yi
中科院分区：
文献类型：
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作者：
Gao, Chao;Pang, Hao;He, Zhi-Yi
LRRK2基因突变与帕金森病(PD)发病的关系一直是人们关注的焦点。最近的研究发现，LRRK2的G2385R多态可能会增加亚洲人群患帕金森病的风险。在此，我们试图阐明LRRK2 G2385R变异与中国PD患者包括运动并发症在内的临床特征的关系。通过对36例携带者和139例非携带者的比较，确定了中国北方中国地区汉族人群中LRRK2基因突变，并探讨了G2385R突变与临床表现的关系。我们发现G2385R携带者在运动波动和运动障碍方面的得分显著高于非携带者。Logistic回归分析显示G2385R变异是女性运动波动的独立危险因素(OR=12.538，95%CI 2.216~70.942，P=0.004)，卡方检验显示携带者组运动障碍的发生率高于非携带者组(16vs.4.4%，P=0.050，OR=4.127，95%CI 1.074~15.864)。这些发现表明该变异与运动并发症的发生密切相关。此外，G2385R变异与女性携带者早发帕金森病显著相关(20.0vs.1.5%，优势比=16.25，95%可信区间1.557~169.618，P=0.020)。我们的研究发现，G2385R变异与运动并发症显著相关，该变异是女性运动波动的独立危险因素。这些发现为更好地了解PD G2385R变异携带者的独特特征提供了必要的初步数据。
The relation between the LRRK2 mutation and its effect on Parkinson's disease (PD) has always caught a lot attention. Recent studies found that the G2385R polymorphism of LRRK2 may increase the risk of PD in Asian populations. Here we tried to clarify the relationship between the LRRK2 G2385R variant and the clinical profiles including motor complication in Chinese PD patients. We identified the LRRK2 variant in the Chinese Han population in northern China and evaluated the relationship between the G2385R variant and clinical profiles through comparison between 36 carriers and 139 non-carriers. We found that G2385R carriers scored significantly higher in motor fluctuation and dyskinesia than non-carriers. Logistic regression analysis showed that the G2385R variant was an independent risk factor for motor fluctuation in females (odds ratio = 12.538, 95 % CI 2.216-70.942, P = 0.004), and a Chi-squared test showed that the frequency of dyskinesia tended to be higher in the carrier group compared to the non-carrier group (16 vs. 4.4 %, P = 0.050, OR = 4.127, 95 % CI 1.074-15.864). These findings indicate that the variant was closely related to the occurrence of motor complication. Additionally, the G2385R variant was significantly related to the early-onset of PD in female carriers (20.0 vs. 1.5 %, odds ratio = 16.25, 95 % CI 1.557-169.618, P = 0.020). Our study found that the G2385R variant was significantly associated with motor complications and that this variant was an independent risk factor for motor fluctuation in females. These findings provide the necessary preliminary data to better understand the unique profile of PD G2385R variant carriers.