Department of Biomedical Science, Faculty of Medicine, University of Malaya, Malaysia.
Ann Acad Med Singap. 2013 May;42(5):237-40.
The G2385R and R1628P LRRK2 gene variants have been associated with an increased risk of Parkinson's disease (PD) in the Asian population. Recently, a new LRRK2 gene variant, A419V, was reported to be a third risk variant for PD in Asian patients. Our objective was to investigate this finding in our cohort of Asian subjects.
Eight hundred and twenty-eight subjects (404 PD patients, and 424 age and gender-matched control subjects without neurological disorders) were recruited. Genotyping was done by Taqman® allelic discrimination assay on an Applied Biosystems 7500 Fast Real-Time PCR machine.
The heterozygous A419V genotype was found in only 1 patient with PD, compared to 3 in the control group (0.4% vs 1.3%), giving an odds ratio of 0.35 (95% confidence interval (CI), 0.01 to 3.79; P = 0.624).
A419V is not an important LRRK2 risk variant in our Asian cohort of patients with PD. Our data are further supported by a literature review which showed that 4 out of 6 published studies reported a negative association of this variant in PD.
G2385R 和 R1628P LRRK2 基因突变与亚洲人群帕金森病（PD）的风险增加相关。最近，一种新的 LRRK2 基因突变 A419V 被报道为亚洲患者 PD 的第三个风险变异。我们的目的是在我们的亚洲受试者队列中研究这一发现。
招募了 828 名受试者（404 名 PD 患者和 424 名年龄和性别匹配的无神经障碍对照组）。通过 Taqman®等位基因鉴别分析在 Applied Biosystems 7500 Fast Real-Time PCR 机器上进行基因分型。
在 PD 患者中仅发现了 1 名杂合 A419V 基因型患者，而对照组中则有 3 名（0.4%比 1.3%），比值比为 0.35（95%置信区间（CI），0.01 至 3.79；P = 0.624）。
A419V 不是我们亚洲 PD 患者队列中的重要 LRRK2 风险变异。我们的数据进一步得到文献综述的支持，该综述显示，6 项已发表研究中有 4 项报告了该变异与 PD 之间的阴性关联。
