台湾地区脑脊液1（CSF1）和脑脊液1受体（CSF1R）基因多态性与帕金森病的关联
Association between CSF1 and CSF1R Polymorphisms and Parkinson's Disease in Taiwan.
作者信息
Chang Kuo-Hsuan, Wu Yih-Ru, Chen Yi-Chun, Wu Hsiu-Chuan, Chen Chiung-Mei
机构信息
Department of Neurology, Chang Gung Memorial Hospital-Linkou Medical Center, Chang Gung University College of Medicine, Taipei 333, Taiwan.
出版信息
J Clin Med. 2019 Sep 24;8(10):1529. doi: 10.3390/jcm8101529.
BACKGROUND
CSF1/CSF1R neuroinflammatory signaling is emerging as an important pathway involved in the pathogenesis of Parkinson's disease (PD). However, the genetic associations between / and PD have not yet been explored.
METHODS
We investigated the effects of two functional genetic variants, including rs1058885 and rs10079250 in a cohort including 502 Taiwanese patients with PD and 511 age- and gender-matched healthy controls.
RESULTS
The rs1058885 TT genotype was less frequent in PD patients compared with control subjects (odds ratio (OR) = 0.63, 95% confidence interval (CI): 0.43-0.92, = 0.015). The PD patients also had a lower frequency of the rs1058885 T allele compared with the control subjects (OR = 0.80, 95% CI: 0.67-0.96, = 0.014). No statistically significant differences in allelic and genotypic frequencies of rs10079250 between the PD and control subjects were found, even after stratification by age at onset and gender.
CONCLUSION
This study reports a genetic association between and PD for the first time.
背景
集落刺激因子1/集落刺激因子1受体（CSF1/CSF1R）神经炎症信号通路正逐渐成为帕金森病（PD）发病机制中的一条重要通路。然而，CSF1/CSF1R与PD之间的遗传关联尚未得到探索。
方法
我们在一个队列中研究了两个功能性基因变异（包括rs1058885和rs10079250）的作用，该队列包括502名台湾PD患者和511名年龄及性别匹配的健康对照者。
结果
与对照受试者相比，PD患者中rs1058885的TT基因型频率较低（优势比（OR）=0.63，95%置信区间（CI）：0.43 - 0.92，P = 0.015）。与对照受试者相比，PD患者中rs1058885的T等位基因频率也较低（OR = 0.80，95% CI：0.67 - 0.96，P = 0.014）。即使按发病年龄和性别分层后，PD患者与对照受试者之间rs10079250的等位基因和基因型频率也未发现统计学上的显著差异。
结论
本研究首次报道了CSF1/CSF1R与PD之间的遗传关联。
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