DNMT3A 突变的克隆性造血与多系统萎缩有关。
Clonal hematopoiesis with DNMT3A mutations is associated with multiple system atrophy.
机构信息
Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
出版信息
Parkinsonism Relat Disord. 2024 Nov;128:107145. doi: 10.1016/j.parkreldis.2024.107145. Epub 2024 Sep 12.
BACKGROUND
Clonal hematopoiesis of indeterminate potential (CHIP) is associated with cardiovascular diseases and other disorders, possibly via inflammation. Recent research suggests a connection of CHIP with neurodegenerative disorders.
OBJECTIVE
We aimed to investigate the association between multiple system atrophy (MSA) and CHIP.
METHODS
We included 100 patients with MSA and 4457 controls. Targeted sequencing of peripheral blood DNA samples was performed, focusing on a panel of 25 genes commonly.
LINKED TO CHIP
The prevalence of CHIP in patients with MSA was assessed against controls at variant allele frequency (VAF) thresholds of 1.5 % and 2.0 %.
RESULTS
DNMT3A mutation rates were significantly higher in patients with MSA, with a VAF of 1.5 %, which remained significant after adjusting for age and sex (adjusted odds ratio, 1.848; 95 % CI, 1.024-3.335; p = 0.0416).
CONCLUSION
Our results suggest an association between DNMT3A mutations and MSA.
背景
不确定潜能的克隆性造血（CHIP）与心血管疾病和其他疾病有关，可能通过炎症起作用。最近的研究表明 CHIP 与神经退行性疾病有关。
目的
我们旨在研究多系统萎缩（MSA）与 CHIP 之间的关联。
方法
我们纳入了 100 名 MSA 患者和 4457 名对照。对外周血 DNA 样本进行靶向测序，重点关注一组 25 个常见基因。
与 CHIP 相关：在变异等位基因频率（VAF）阈值为 1.5%和 2.0%的情况下，评估 MSA 患者中 CHIP 的患病率与对照相比。
结果
MSA 患者的 DNMT3A 突变率明显更高，VAF 为 1.5%，在调整年龄和性别后仍然显著（调整后的优势比，1.848；95%置信区间，1.024-3.335；p=0.0416）。
结论
我们的结果表明 DNMT3A 突变与 MSA 之间存在关联。
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