DNMT3A 突变导致的克隆性造血与多系统萎缩有关

IF 3.1 3区医学 Q2 CLINICAL NEUROLOGY Parkinsonism & related disorders Pub Date : 2024-09-12 DOI:10.1016/j.parkreldis.2024.107145

Seungmin Lee , Han-Joon Kim , Seoyeon Kim , Bora Jin , HoYoung Jeon , Kyung Ah Woo , Jung Hwan Shin , Chansub Lee , Choonghyun Sun , Hogune Im , Hongyul An , Young Il Koh , Su-Yeon Choi , Beomseok Jeon

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引用次数: 0

摘要

背景不确定潜能克隆性造血（CHIP）与心血管疾病和其他疾病有关，可能是通过炎症引起的。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。在变异等位基因频率（VAF）阈值为1.5%和2.0%的情况下，对照组中MSA患者的CHIP患病率进行了评估。结果DNMT3A突变率在MSA患者中明显较高，VAF为1.5%，在调整年龄和性别后仍然显著（调整后的几率比为1.848；95% CI为1.024-3.335；P = 0.0416）。

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Clonal hematopoiesis with DNMT3A mutations is associated with multiple system atrophy

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.

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来源期刊

Parkinsonism & related disorders 医学-临床神经学

CiteScore

6.20

自引率

4.90%

发文量

292

审稿时长

39 days

期刊介绍： Parkinsonism & Related Disorders publishes the results of basic and clinical research contributing to the understanding, diagnosis and treatment of all neurodegenerative syndromes in which Parkinsonism, Essential Tremor or related movement disorders may be a feature. Regular features will include: Review Articles, Point of View articles, Full-length Articles, Short Communications, Case Reports and Letter to the Editor.