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:
https://www.sciencedirect.com/science/article/pii/S235239642100102X.

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. 

UNITI Clinical Trial

Are you tinnitus patient and interested in participating?

Take part in Pre-Screening for the clinics in Leuven, Berlin and Granada
(please use other browsers instead of Internet Explorer) 

Write an Email

Social Media

Logo Facebook Logo Twitter Logo Instagram Logo LinkedIn Logo Researchgate

Key Facts

Upcoming Events

No events found