富含亮氨酸重复激酶2基因（LRRK2）的R1628P突变增加帕金森病风险：重复验证证据
LRRK2 R1628P increases risk of Parkinson's disease: replication evidence.
作者信息
Tan E K, Tan Louis C, Lim H Q, Li R, Tang M, Yih Yuen, Pavanni R, Prakash K M, Fook-Chong S, Zhao Yi
机构信息
Department of Neurology, Singapore General Hospital, National Neuroscience Institute, Outram Road, Singapore, 169608, Singapore.
出版信息
Hum Genet. 2008 Oct;124(3):287-8. doi: 10.1007/s00439-008-0544-2. Epub 2008 Sep 10.
We showed that the frequency of a LRRK2 variant (c.4883G > C, R1628P) was higher in Parkinson's disease (PD) compared to controls (8.4 vs. 3.4%, P = 0.046, OR 2.5, 95% CI 1.1-5.6). In the multivariate logistic regression (with adjustments made for the effect of age, age of onset, and gender), the heterozygous R1628P genotype was associated with an increased risk of PD compared to controls (OR 3.3, 95% CI 1.4- 7.9, P = 0.007). We provided an independent confirmation that the R1628P variant increases the risk of PD among Chinese.
我们发现，与对照组相比，帕金森病（PD）患者中LRRK2变异体（c.4883G > C，R1628P）的频率更高（8.4% 对 3.4%，P = 0.046，比值比2.5，95% 置信区间1.1 - 5.6）。在多因素逻辑回归分析中（对年龄、发病年龄和性别影响进行校正），与对照组相比，杂合R1628P基因型与PD风险增加相关（比值比3.3，95% 置信区间1.4 - 7.9，P = 0.007）。我们提供了独立证据，证实R1628P变异体增加了中国人患PD的风险。
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