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Eur J Neurol. 2020 Mar 19. doi: 10.1111/ene.14224. [Epub ahead of print]

Identification of CD200R1 promoter and the association of its polymorphisms with the risk of Parkinson's disease.

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Institute of Neurology and Department of Neurology, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Department of Aging, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Shanghai Jiaotong University School of Medicine, Shanghai, China.
Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Provincial Maternity and Children Health Hospital, affiliated hospital of Fujian Medical University, FuJian, China.
Department of Neuroscience, University of California, San Diego, California, USA.



Neuroinflammation is known to be involved in the pathogenesis of Parkinson's disease (PD). Abnormal activation of microglia plays a key role in this pathological process. CD200R1 is a membrane glycoprotein that is expressed primarily on myeloid cells including microglia, and is involved in the maintenance of microglia in a stationary status. Our previous study has reported that the regulation of CD200R1 expression is altered in PD patient. Such alteration will lead to neuroinflammation and is related to the pathogenesis of PD. The possible role of promoter polymorphisms for the abnormal CD200R1 expression in PD was examined in this study.


The UCSC database and dual-luciferase assays were used to confirm promoter region of CD200R1. The promoter of CD200R1 was sequenced in 457 PD patients and 520 matched healthy controls from Chinese Han population. Dual-luciferase assays were conducted to examine the promoter activity of CD200R1.


We confirmed that promoter of CD200R1 is located in the region 876 to 146bp upstream of the coding DNA sequence. The frequency of rs144721913 (p=0.001) and rs72952157 (p=0.022) in the promoter were significantly different between the PD and control group. rs144721913 increases the risk of PD by approximately 14-fold and rs72952157 by 2.6-fold. Dual-luciferase assay indicated that rs144721913 T allele and rs72952157 G allele reduced the transcriptional activity of the CD200R1 promoter.


We for the first time define the promoter region of CD200R1 and reported two potential risk polymorphisms (rs144721913 and rs72952157) in the region for PD in Chinese Han populations.


CD200R1; Chinese Han population; Parkinson’s disease; Polymorphism; Promoter


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