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.
Int J Neurosci. 2021 Jun;131(6):544-548. doi: 10.1080/00207454.2020.1750388. Epub 2020 Apr 19.
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.
Detection of a possible contribution of rs75392628 variant of TREM2 gene to PD risk.
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.
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).
Rs75392628 TREM2 variant is rather unlikely to be a major genetic risk contributor of PD.
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。
检测 TREM2 基因 rs75392628 变异是否可能导致 PD 风险。
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。
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）。
rs75392628 TREM2 变异不太可能是 PD 的主要遗传风险因素。
