作者
Alvaro Gallego-Martinez, Alba Escalera-Balsera, Natalia Trpchevska, Paula Robles-Bolivar, Pablo Roman-Naranjo, Lidia Frejo, Patricia Perez-Carpena, Jan Bulla, Silvano Gallus, Barbara Canlon, Christopher R Cederroth, Jose A Lopez-Escamez
发表日期
2022/11/30
期刊
npj Genomic Medicine
卷号
7
期号
1
页码范围
70
出版商
Nature Publishing Group UK
简介
Tinnitus is the phantom percept of an internal non-verbal set of noises and tones. It is reported by 15% of the population and it is usually associated with hearing and/or brain disorders. The role of structural variants (SVs) in coding and non-coding regions has not been investigated in patients with severe tinnitus. In this study, we performed whole-genome sequencing in 97 unrelated Swedish individuals with chronic tinnitus (TIGER cohort). Rare single nucleotide variants (SNV), large structural variants (LSV), and copy number variations (CNV) were retrieved to perform a gene enrichment analysis in TIGER and in a subgroup of patients with severe tinnitus (SEVTIN, n = 34), according to the tinnitus handicap inventory (THI) scores. An independent exome sequencing dataset of 147 Swedish tinnitus patients was used as a replication cohort (JAGUAR cohort) and population-specific datasets from Sweden (SweGen …
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