Suppr超能文献

携带 LRRK2 G2385R 变异的女性帕金森病患者更容易出现运动波动。

LRRK2 G2385R variant carriers of female Parkinson's disease are more susceptible to motor fluctuation.

机构信息

Neurology Department of First Affiliated Hospital of China Medical University, Shenyang, People's Republic of China.

出版信息

J Neurol. 2013 Nov;260(11):2884-9. doi: 10.1007/s00415-013-7086-9. Epub 2013 Aug 30.

Abstract

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.

摘要

LRRK2 突变与其对帕金森病(PD)的影响之间的关系一直备受关注。最近的研究发现,LRRK2 的 G2385R 多态性可能会增加亚洲人群患 PD 的风险。在这里,我们试图阐明 LRRK2 G2385R 变体与包括运动并发症在内的中国 PD 患者临床特征之间的关系。我们在中国北方的汉族人群中鉴定了 LRRK2 变体,并通过比较 36 名携带者和 139 名非携带者,评估了 G2385R 变体与临床特征之间的关系。我们发现,G2385R 携带者的运动波动和运动障碍评分明显高于非携带者。逻辑回归分析显示,G2385R 变体是女性运动波动的独立危险因素(比值比=12.538,95%置信区间 2.216-70.942,P=0.004),卡方检验显示,与非携带者相比,携带者组运动障碍的发生率较高(16 对 4.4%,P=0.050,OR=4.127,95%置信区间 1.074-15.864)。这些发现表明该变体与运动并发症的发生密切相关。此外,G2385R 变体与女性携带者 PD 的早发显著相关(20.0 对 1.5%,比值比=16.25,95%置信区间 1.557-169.618,P=0.020)。我们的研究发现,G2385R 变体与运动并发症显著相关,并且该变体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 变体携带者的独特特征提供了必要的初步数据。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验