UNITI results 20231201

UNITI results

UNITI project finished in September 2023. It’s overall aim was to deliver a predictive computational model based on existing and longitudinal data attempting to address the question which treatment approach is optimal for a specific patient based on specific parameters. Clinical, epidemiological, medical, genetic and audiological data, including signals reflecting ear-brain communication, were analysed from existing databases. Predictive factors for different patient groups were extracted and their prognostic relevance were tested in a randomized controlled trial (RCT) in which different groups of patients underwent a combination of therapies targeting the auditory and central nervous systems.

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Burder of rare variants paper We are happy to announce that we have a new paper published in EBioMedicine entitled "Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study" and is available online here:

We found an enrichment of rare missense variants in 24 synaptic genes in a Spanish cohort, the most significant being PRUNE2, AKAP9, SORBS1, ITGAX, ANK2, KIF20B and TSC2 (p < 2E−04), when they were compared with reference datasets. This burden was replicated for ANK2 gene in a Swedish cohort with 97 tinnitus individuals, and in a subset of 34 Swedish patients with severe tinnitus for ANK2, AKAP9 and TSC2 genes (p < 2E−02). However, these associations were not significant in a third cohort of 701 generalized epilepsy individuals without tinnitus. Gene ontology (GO) and gene-set enrichment analyses revealed several pathways and biological processes involved in severe tinnitus, including membrane trafficking and cytoskeletal protein binding in neurons. 

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Key Facts

Data and analysis scripts of the UNITI-RCT results are currently available upon request (stefan.schoisswohl@klinik.uni-regensburg.de).

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