Identification of the molecular basis of Menière's Disease in Brazilian cohort

Version 2.0
Bortoletto, Giselle Bianco; Lopez-Escamez, Jose Antonio; Sartorato, Edi Lúcia, 2026, "Identification of the molecular basis of Menière's Disease in Brazilian cohort", https://doi.org/10.25824/redu/95TSPQ, Repositório de Dados de Pesquisa da Unicamp, V2
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Description
This dataset comprises the complete molecular and structural findings from the doctoral thesis "Identification of the molecular basis of Meniere's Disease," representing the first comprehensive whole exome sequencing (WES) profiling of a Brazilian patient cohort diagnosed with Ménière's Disease. Generated through a collaborative effort between the Laboratory of Human Molecular Genetics at CBMEG/UNICAMP and the Meniere's Disease Neuroscience Laboratory at the Kolling Institute, University of Sydney, the dataset includes three main components: (1) WES data from 22 patients analyzed using the Nextera Rapid Exome Enrichment Kit on the HiSeqTM 2500 platform, which identified variants of interest in 13 genes (OTOG, PCDH15, USH1G, ADGRV1, ESRRB, CDH23, AQP6, KCNH2, TNFRSF13B, SDHA, HRH4, ADD1, SLC25A35, HMX2) across 11 patients; (2) molecular screening results for the intergenic variant rs4947296, a trans-expression quantitative trait locus on chromosome 6 previously associated with bilateral MD and shown to regulate genes in the TWEAK/Fn14 pathway, potentially linking the disease to autoimmune response mechanisms; and (3) three-dimensional structural models of wild-type and mutated proteins corresponding to the identified genetic variants, generated using Modeller, Swiss-Model, and AlphaFold, with structural analysis performed in PyMOL and stability predictions via DynaMut2 to elucidate the potential structural impacts of these variants. (2025-11-05)
Subject Medicine, Health and Life Sciences
Keyword Doença de Ménière, Whole Exome sequencing, Precision medicine, Autoimmune Meniere's disease, Structural bioinformatics, Protein modelling
Related Publication BORTOLETTO, Giselle Bianco. Identification of the molecular basis of Menière's Disease. 2025. 1 recurso online (137 p.) Tese (doutorado) - Universidade Estadual de Campinas (UNICAMP), Faculdade de Ciências Médicas, Campinas, SP. Disponível em: 20.500.12733/40569. Acesso em: 28 fev. 2026.
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In-house list of candidate genes.pdf
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Published Mar 2, 2026
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MD5: ed5deb14cd36f8aae7e98a31218a6193
First comprehensive WES profiling of Brazilian patients diagnosed with Menière's Disease
Protein modelling results.pdf
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Published Jan 26, 2026
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MD5: 6fdd4a1c9c745fa0f600d4e418c9d211
Protocol for rs4947296 molecular screening.pdf
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Published Mar 2, 2026
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MD5: 44b95218194b94648d27832b9f9a4b6b
Molecular screening for the intergenic variant rs4947296 in Brazilian patients Diagnosed with Menière's Disease
README.md
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Published Mar 2, 2026
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Results for rs4947296 molecular screening.pdf
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Published Mar 2, 2026
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MD5: 0463e05a87d36a519aea8c620838f9f9
Molecular screening for the intergenic variant rs4947296 in Brazilian patients Diagnosed with Menière's Disease
Sample characterization.pdf
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Published Mar 2, 2026
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MD5: 07f8709de46aa265681482f59307de10
First comprehensive WES profiling of Brazilian patients diagnosed with Menière's Disease
WES results and variant analysis.pdf
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MD5: d3026d0fc726213c51fd6c710f0b433f
First comprehensive WES profiling of Brazilian patients diagnosed with Menière's Disease
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