评估 TREM2 rs75932628 变异与希腊人群帕金森病的关联及对当前数据的 Meta 分析。
Assessment of TREM2 rs75932628 variant's association with Parkinson's disease in a Greek population and Meta-analysis of current data.
机构信息
Department of Neurology, Laboratory of Neurogenetics, University of Thessaly, University Hospital of Larissa, Larissa, Greece.
Department of Neurosurgery, University of Thessaly, University Hospital of Larissa, Larissa, Greece.
出版信息
Int J Neurosci. 2021 Jun;131(6):544-548. doi: 10.1080/00207454.2020.1750388. Epub 2020 Apr 19.
BACKGROUND
Α number of genetic variants are considered to confer susceptibility to Parkinson's disease (PD). Rs75392628 (R47H), a rare variant of TREM2 gene, has been linked to PD, although its role on PD remains conflicting.
OBJECTIVE
Detection of a possible contribution of rs75392628 variant of TREM2 gene to PD risk.
METHODS
A total of 358 PD patients and 358 healthy controls genotyped for rs75392628. In addition, a meta-analysis was performed by merging our results with those from previous studies.
RESULTS
The rare variant of rs75932628 (47H) of TREM2 gene was not detected on cohort. Meta-analysis of a total of 9271 PD cases and 9777 controls across 14 independent PD data sets from 9 studies, including the present study, did not show any statistically significant effect of rs75392628 on PD risk (OR:1.54 95% CI:0.87-2.73. OR: 1.54, 95%CI: 0.71-3.32).
CONCLUSIONS
Rs75392628 TREM2 variant is rather unlikely to be a major genetic risk contributor of PD.
背景
一些遗传变异被认为易患帕金森病（PD）。TREM2 基因的罕见变异 rs75392628（R47H）与 PD 相关，尽管其在 PD 中的作用仍存在争议。
目的
检测 TREM2 基因 rs75392628 变异是否可能导致 PD 风险。
方法
对 358 名 PD 患者和 358 名健康对照者进行 rs75392628 基因分型。此外，还通过合并我们的结果和以前的研究结果进行了荟萃分析。
结果
该队列中未检测到 TREM2 基因 rs75932628 的罕见变异（47H）。对来自 9 项研究的 14 个独立 PD 数据集（包括本研究）共 9271 例 PD 病例和 9777 例对照者的荟萃分析显示，rs75392628 对 PD 风险无统计学显著影响（OR：1.54，95%CI：0.87-2.73。OR：1.54，95%CI：0.71-3.32）。
结论
rs75392628 TREM2 变异不太可能是 PD 的主要遗传风险因素。
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