Yang Nan-Nan, Sang Shu-Shan, Peng Tao, Lu Hong
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Department of Otolaryngology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Front Neurosci. 2022 Mar 3;16:832550. doi: 10.3389/fnins.2022.832550. eCollection 2022.
Rapid eye movement (REM) Rapid eye movement sleep behavior disorder (RBD) is a common non-motor symptom of PD. However, the association between the rs3910105 genotype and RBD in Parkinson's disease (PD) remains unclear.
This study used Parkinson's Progression Markers Initiative (PPMI) data and included 270 patients with newly diagnosed PD without RBD who were divided into rs3910105 C carriers (CC+CT; = 187) and TT carriers ( = 83). They were followed up for 5 years to identify the development of RBD. To investigate the influence of cerebrospinal fluid (CSF) alpha-synuclein (α-syn) and β-amyloid 1-42 (Aβ) in the association between rs3910105 and RBD, the patients were additionally classified into "high-level" and "low-level" groups using cutoff values for CSF α-syn and Aβ levels.
At baseline, the rs3910105 C allele group had lower CSF α-syn and Aβ levels than the TT group. During the 5.0-year follow-up, the rs3910105 C allele group had a higher incidence of RBD than the TT group. In the subgroup analyses, the effect of the rs3910105 C allele was not found in the "low-level" group. However, in the "high-level" group, the rs3910105 C allele independently increased the risk of RBD.
The rs3910105 C allele might be a novel genetic risk factor for RBD development in PD, α-syn pathways might have a role in this association and more basic research would be needed to elucidate the mechanism in the future.
快速眼动（REM）快速眼动睡眠行为障碍（RBD）是帕金森病（PD）常见的非运动症状。然而，帕金森病（PD）中rs3910105基因型与RBD之间的关联仍不明确。
本研究使用帕金森病进展标志物计划（PPMI）数据，纳入270例新诊断的无RBD的PD患者，分为rs3910105 C携带者（CC + CT；n = 187）和TT携带者（n = 83）。对他们进行5年随访以确定RBD的发生情况。为研究脑脊液（CSF）α-突触核蛋白（α-syn）和β-淀粉样蛋白1-42（Aβ）在rs3910105与RBD关联中的影响，根据CSF α-syn和Aβ水平的临界值将患者进一步分为“高水平”和“低水平”组。
在基线时，rs3910105 C等位基因组的CSF α-syn和Aβ水平低于TT组。在5.0年的随访期间，rs3910105 C等位基因组的RBD发生率高于TT组。在亚组分析中，“低水平”组未发现rs3910105 C等位基因的影响。然而，在“高水平”组中，rs3910105 C等位基因独立增加了RBD的风险。
rs3910105 C等位基因可能是PD中RBD发生的新遗传危险因素，α-syn通路可能在此关联中起作用，未来需要更多基础研究来阐明其机制。
