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Journal of Neurology

Clinical and genetic characteristics of ALS patients with variants in genes regulating DNA methylation

Published in:
Authors
Tianmi Yang
Qianqian Wei
Dejiang Pang
Yangfan Cheng
Jingxuan Huang
Junyu Lin
Yi Xiao
Qirui Jiang
Shichan Wang
Chunyu Li
Huifang Shang
Published in
Journal of Neurology | Issue 8/2024

Abstract

Background

Aberrant DNA methylation alterations are implicated in amyotrophic lateral sclerosis (ALS). Nevertheless, the influence of genetic variants in genes regulating DNA methylation on ALS patients is not well understood. Therefore, we aim to provide a comprehensive variant profile of genes related to DNA methylation (DNMT1, DNMT3A, DNMT3B, DNMT3L) and demethylation (TET1, TET2, TET3, TDG) and to investigate the association of these variants with ALS.

Methods

Variants were screened in a cohort of 2240 ALS patients from Southwest China, using controls from the Genome Aggregation Database (n = 9976) and the China Metabolic Analytics Project (n = 10,588). The over-representation of rare variants and their association with ALS risk were evaluated using Fisher’s exact test with Bonferroni correction at both allele and gene levels. Kaplan–Meier analysis and Cox regression analysis were employed to explore the relationship between variants and survival.

Results

A total of 210 variants meeting the criteria were identified. Gene-based burden analysis identified a significant increase in ALS risk associated with rare variants in the TET2 gene (OR = 1.95, 95% CI = 1.29–2.88, P = 0.001). Survival analysis demonstrated that patients carrying variants in demethylation-related genes had a higher risk of death compared to those with methylation-related gene variants (HR = 1.29, 95% CI = 1.03–1.86, P = 0.039).

Conclusions

This study provides a genetic variant profile of genes involved in DNA methylation and demethylation regulation, along with the clinical characteristics of ALS patients carrying these variants. The findings offer genetic evidence implicating disrupted DNA methylation dynamics in ALS.
Title
Clinical and genetic characteristics of ALS patients with variants in genes regulating DNA methylation
Authors
Tianmi Yang
Qianqian Wei
Dejiang Pang
Yangfan Cheng
Jingxuan Huang
Junyu Lin
Yi Xiao
Qirui Jiang
Shichan Wang
Chunyu Li
Huifang Shang
Publication date
22-06-2024
Publisher
Springer Berlin Heidelberg
Published in
Journal of Neurology / Issue 8/2024
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-024-12508-9
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Abstract graphic of layered, concentric circular shapes in bright green, pink, blue, and purple on a dark blue background. The rings and segments form a complex radial pattern without text/© Springer Health+ IME, Enchancing Lennox-Gastaut Syndrome program image/© Springer Health+ IME