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

被引:0
作者
Chao Gao
Hao Pang
Xiao-Guang Luo
Yan Ren
Hong Shang
Zhi-Yi He
机构
[1] Neurology Department of Shengjing Affiliated Hospital of China Medical University,Department of Forensic Serology
[2] China Medical University,Department of Laboratory Medicine
[3] First Affiliated Hospital of China Medical University,undefined
来源
Journal of Neurology | 2013年 / 260卷
关键词
LRRK2; G2385R variant; Parkinson’s disease; Motor complication; Gender effects;
D O I
暂无
中图分类号
学科分类号
摘要
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.
引用
收藏
页码:2884 / 2889
页数:5
相关论文
共 244 条
[1]  
Fung HC(2006)A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan BMC Neurol 6 47-138
[2]  
Chen CM(2006)A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson’s disease risk in Taiwan Neurogenetics 7 133-863
[3]  
Hardy J(2007)The LRRK2 Gly2385Arg variant is associated with Parkinson’s disease: genetic and functional evidence Hum Genet 120 857-2443
[4]  
Singleton AB(2007)The prevalence of LRRK2 Gly2385Arg variant in Chinese Han population with Parkinson’s disease Mov Disord 22 2439-305
[5]  
Wu YR(2008)LRRK2 Gly2385Arg variant is a risk factor of Parkinson’s disease among Han-Chinese from mainland China Eur J Neurol 15 301-1041
[6]  
Di Fonzo A(2009)LRRK2 mutations and risk variants in Japanese patients with Parkinson’s disease Mov Disord 24 1034-269
[7]  
Wu-Chou YH(2008)Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease Neurogenetics 9 263-92
[8]  
Lu CS(2007)Lrrk2 G2385R is an ancestral risk factor for Parkinson’s disease in Asia Parkinsonism Relat Disord 13 89-487
[9]  
van Doeselaar M(2012)Premotor biomarkers for Parkinson’s disease—a promising direction of research Transl Neurodegener 1 11-184
[10]  
Simons EJ(2009)The leucine rich repeat kinase 2 (LRRK2) G2019S substitution mutation. Association with Parkinson disease, malignant melanoma and prevalence in ethnic groups in Israel J Neurol 256 483-1534