@misc{10481/106318,
year = {2025},
month = {8},
url = {https://hdl.handle.net/10481/106318},
abstract = {Meniere disease (MD) is a cochleo-vestibular syndrome defned by episodes of vertigo associated with tinnitus and sensorineural hearing loss. While MD immune response has been linked to autoinfammation and type 2 cytokines, other molecular
mechanisms such as DNA methylation have an emerging yet underexplored role in MD pathophysiology.To understand the
role of DNA methylation in MD, we performed whole-genome bisulphite sequencing in MD patients (n=40) and controls
(n=13) and used diferentially methylated cytosines (DMCs) to defne clusters, cell types, and biochemical pathways in MD.
We found three MD subclusters: Cluster 1 (40% of patients) and Cluster 3 (25%) showed DMC profles against controls,
while Cluster 2 (35%) did not. Signifcant DMCs from Cluster 1 and Cluster 3 versus Control analysis were annotated to
3033 and 59 unique genes, respectively. Each cluster showed a diferent gene enrichment; however, the KDMB4 gene had
signifcant upregulated DNA accessibility in a complementary ATAC-seq dataset and showed signifcant DMCs in both
Cluster 1 and Cluster 3. DNA methylation patterns in MD reveal three clusters which are refective of an underlying diference in pathways related to cytokine stimulus, immunity T-cell, and NK-cell pathways. KDMB4 emerges as a critical MD
gene which deserves further research.},
organization = {Andalusian Health Department (EPIVERT) - (PI027-2020)},
organization = {University of
Sydney (K7013_B3413)},
publisher = {Springer},
keywords = {WGBS},
keywords = {Meniere’s disease},
keywords = {T-cells},
title = {Whole genome DNA methylation profles defne Meniere’s disease subclusters},
doi = {10.1007/s00109-025-02581-6},
author = {Patil, Vibha and Cruz-Granados, Pablo and Cara, Francisca E. and Amor-Dorado, Juan Carlos and Aran, Ismael and Soto-Varela, Andrés and Pérez-Carpena, Patricia and Lopez-Escamez, Jose Antonio},
}