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越南京族中LRRK2基因R1628P变异与帕金森病的关联:一项横断面研究。

Association of LRRK2 R1628P variant with Parkinson's disease in Kinh Vietnamese: a cross-sectional study.

作者信息

Do Minh Duc, Tran Tai Ngoc, Le Linh Hoang Gia, Mai Thao Phuong

机构信息

Center for Molecular Biomedicine, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam.

Department of Neurology, University Medical Center Ho Chi Minh City, Ho Chi Minh City, Vietnam.

出版信息

Neurogenetics. 2025 Jul 31;26(1):56. doi: 10.1007/s10048-025-00840-9.

DOI:10.1007/s10048-025-00840-9
PMID:40742407
Abstract

Parkinson's disease (PD) is a complex disorder with contributions by environmental and genetic factors. LRRK2 R1628P is a major genetic risk factor for developing PD in Asian populations. However, the effect of this variant in Kinh Vietnamese remains unclear. This study collected DNA samples of 832 subjects comprising 190 PD patients and 642 control cases, and the LRRK2 R1628P variant was genotyped using an allele-specific oligonucleotide PCR method. The prevalence of the GC genotype of LRRK2 R1628P was significantly higher in the PD group than in the control group, and the LRRK2 R1628P variant showed a significant association with PD with OR = 2.91 (95% CI = 1.50-5.62). LRRK2 R1628P was also found to be associated with PD in subpopulations for males, early-onset, and late-onset. These results emphasize the important genetic contribution of LRRK2 R1628P in the risk of developing PD in the Kinh Vietnamese population.

摘要

帕金森病(PD)是一种由环境和遗传因素共同作用导致的复杂疾病。LRRK2基因R1628P位点突变是亚洲人群患帕金森病的主要遗传风险因素。然而,该变异在京族越南人中的作用尚不清楚。本研究收集了832名受试者的DNA样本,其中包括190例帕金森病患者和642例对照,采用等位基因特异性寡核苷酸PCR方法对LRRK2基因R1628P位点进行基因分型。帕金森病组LRRK2基因R1628P位点GC基因型的患病率显著高于对照组,且LRRK2基因R1628P位点变异与帕金森病显著相关,比值比(OR)=2.91(95%置信区间CI=1.50 - 5.62)。在男性、早发型和晚发型亚组中也发现LRRK2基因R1628P位点与帕金森病相关。这些结果强调了LRRK2基因R1628P位点在京族越南人患帕金森病风险中的重要遗传作用。

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本文引用的文献

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Genome-wide association and polygenic risk score estimation of type 2 diabetes mellitus in Kinh Vietnamese-A pilot study.越南京族人群 2 型糖尿病的全基因组关联和多基因风险评分估计:一项初步研究。
J Cell Mol Med. 2024 Jul;28(13):e18526. doi: 10.1111/jcmm.18526.
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Effect of AGTR1 A1166C genetic polymorphism on coronary artery lesions and mortality in patients with acute myocardial infarction.血管紧张素Ⅱ受体 1(AGTR1)A1166C 基因多态性对急性心肌梗死患者冠状动脉病变及死亡率的影响。
PLoS One. 2024 Apr 18;19(4):e0300273. doi: 10.1371/journal.pone.0300273. eCollection 2024.
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Predictive value of ACE I/D genetic polymorphism for 12-month all-cause mortality in patients with acute myocardial infarction.
血管紧张素转换酶 I/D 基因多态性对急性心肌梗死患者 12 个月全因死亡率的预测价值。
Medicine (Baltimore). 2023 Sep 1;102(35):e34976. doi: 10.1097/MD.0000000000034976.
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Clinical and genetic analysis of Vietnamese patients diagnosed with early-onset Parkinson's disease.越南早发性帕金森病患者的临床和基因分析。
Brain Behav. 2023 Apr;13(4):e2950. doi: 10.1002/brb3.2950. Epub 2023 Mar 6.
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Impact of 100 LRRK2 variants linked to Parkinson's disease on kinase activity and microtubule binding.帕金森病相关的 100 个 LRRK2 变异对激酶活性和微管结合的影响。
Biochem J. 2022 Sep 16;479(17):1759-1783. doi: 10.1042/BCJ20220161.
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Association of Single-Nucleotide Polymorphisms with the Two Clinical Phenotypes Type 2 Diabetes Mellitus and Metabolic Syndrome in a Kinh Vietnamese Population.越南京族人群中单核苷酸多态性与2型糖尿病和代谢综合征两种临床表型的关联
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Mol Cell Biol. 2021 Apr 22;41(5). doi: 10.1128/MCB.00660-20.