International Journal of Neuroscience ( IF 2.2 ) Pub Date : 2020-04-19 , DOI: 10.1080/00207454.2020.1750388 Efthimios Dardiotis 1 , Dimitrios Rikos 1 , Vasileios Siokas 1 , Athina-Maria Aloizou 1 , Zisis Tsouris 1 , Evagelos Sakalakis 1 , Alexandros G. Brotis 2 , Dimitrios P. Bogdanos 3, 4 , Georgios M. Hadjigeorgiou 1, 5
Abstract
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 (ORFE:1.54 95% CI:0.87-2.73. ORRE: 1.54, 95%CI: 0.71-3.32).
Conclusions
Rs75392628 TREM2 variant is rather unlikely to be a major genetic risk contributor of PD.
中文翻译:
在希腊人群中评估TREM2 rs75932628变体与帕金森氏病的关联性和当前数据的荟萃分析
摘要
背景
许多遗传变异被认为赋予对帕金森氏病(PD)的敏感性。Rs75392628(R47H)是TREM2基因的罕见变体,尽管它在PD上的作用仍然存在冲突,但已与PD关联。
客观的
检测TREM2基因的rs75392628变体对PD风险的可能贡献。
方法
共有358名PD患者和358名健康对照者进行了rs75392628基因型分型。此外,通过将我们的结果与以前的研究结果进行合并,进行了荟萃分析。
结果
队列中未检测到TREM2基因的rs75932628(47H)的罕见变体。对包括本研究在内的9项研究的14个独立PD数据集进行的总共9271例PD病例和9777对照的荟萃分析未显示rs75392628对PD风险有任何统计学显着性影响(或FE:1.54 95%CI:0.87 -2.73。或RE:1.54,95%CI:0.71-3.32)。
结论
Rs75392628 TREM2变体不太可能成为PD的主要遗传风险贡献者。