Association between LRRK2 gene polymorphisms and Parkinson's disease progression in a Chinese Han population.

IF 2.8 3区生物学 Q2 GENETICS & HEREDITY

Frontiers in Genetics Pub Date : 2025-09-25 eCollection Date: 2025-01-01 DOI:10.3389/fgene.2025.1662348

Zhaoting Zhang, Lei Geng, Jiuxin Gao, Ruifang She, Zhonglin Ge, Jianhua Liu, Qianqian He, Bing Fu, Weiguo Liu

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引用次数: 0

Abstract

Objective: The objective of this study was to investigate the association between LRRK2 gene polymorphisms and Parkinson's disease (PD) risk, as well as the progression of PD, in a Chinese Han population.

Methods: A case-control study was carried out on 180 PD patients and 196 healthy controls between October 2019 and October 2023. The demographic and clinical data of all participants were collected. At the baseline and 3-year follow-up, assessment of motor and non-motor symptoms of PD patients were carried out using scales including Unified Parkinson's Disease Rating Scale parts II, III, and IV, Hoehn and Yahr (H-Y) staging scale, Hamilton Depression Rating Scale, Hamilton Anxiety Rating Scale, Non-motor Symptom Questionnaire, Parkinson's disease sleep scale, Montreal Cognitive Assessment, and Mini-Mental State Examination. Six single nucleotide polymorphisms (SNPs) of the LRRK2 gene rs1994090, rs2046932, rs2708453, rs34778348, rs4768212, and rs7304279 were selected and genotyped using the MassARRAY platform in all participants.

Results: A strong linkage disequilibrium was observed among the five SNP loci of the LRRK2 gene, including rs1994090, rs2046932, rs2708453, rs4768212, and rs7304279. LRRK2 rs7304279 (OR = 3.572, P < 0.001) and rs34778348 (OR = 0.408, P = 0.003) contributed to the risk of PD development. Carriage of more risk variants were associated with higher risk of PD (OR = 6.467, P < 0.001). Cox proportional hazards model analysis showed that LRRK2 rs7304279 polymorphism was significantly associated with H-Y stage progression (P = 0.030).

Conclusion: Our findings suggest that LRRK2 rs34778348 and rs7304279 polymorphisms are associated with the risk of developing PD. And LRRK2 rs7304279 polymorphism is correlated with disease progression in PD patients.

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LRRK2基因多态性与中国汉族帕金森病进展的关系

目的：本研究的目的是探讨LRRK2基因多态性与中国汉族人群帕金森病（PD）风险以及PD进展之间的关系。方法：2019年10月至2023年10月，对180例PD患者和196名健康对照者进行病例对照研究。收集所有参与者的人口学和临床资料。在基线和3年随访时，采用统一帕金森病评定量表第II、III、IV部分、Hoehn and Yahr （H-Y）分期量表、汉密尔顿抑郁评定量表、汉密尔顿焦虑评定量表、非运动症状问卷、帕金森病睡眠量表、蒙特利尔认知评定量表和简易精神状态检查量表对PD患者的运动和非运动症状进行评估。选择LRRK2基因rs1994090、rs2046932、rs2708453、rs34778348、rs4768212和rs7304279的6个单核苷酸多态性（snp），使用MassARRAY平台对所有参与者进行基因分型。结果：LRRK2基因rs1994090、rs2046932、rs2708453、rs4768212和rs7304279 5个SNP位点之间存在较强的连锁不平衡。LRRK2 rs7304279 （OR = 3.572, P < 0.001）和rs34778348 （OR = 0.408, P = 0.003）与PD发生风险相关。携带更多的危险变异与PD的高风险相关（OR = 6.467, P < 0.001）。Cox比例风险模型分析显示，LRRK2 rs7304279多态性与H-Y分期进展显著相关（P = 0.030）。结论：LRRK2 rs34778348和rs7304279多态性与PD发病风险相关。LRRK2 rs7304279多态性与PD患者疾病进展相关。

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来源期刊

Frontiers in Genetics Biochemistry, Genetics and Molecular Biology-Molecular Medicine

CiteScore

5.50

自引率

8.10%

发文量

3491

审稿时长

14 weeks

期刊介绍： Frontiers in Genetics publishes rigorously peer-reviewed research on genes and genomes relating to all the domains of life, from humans to plants to livestock and other model organisms. Led by an outstanding Editorial Board of the world’s leading experts, this multidisciplinary, open-access journal is at the forefront of communicating cutting-edge research to researchers, academics, clinicians, policy makers and the public. The study of inheritance and the impact of the genome on various biological processes is well documented. However, the majority of discoveries are still to come. A new era is seeing major developments in the function and variability of the genome, the use of genetic and genomic tools and the analysis of the genetic basis of various biological phenomena.