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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00003088naa a2200385 4500
001oai:prod.swepub.kib.ki.se:151358220
003SwePub
008240811s2022 | |||||||||||000 ||eng|
0247 a http://kipublications.ki.se/Default.aspx?queryparsed=id:1513582202 URI
0247 a https://doi.org/10.1038/s41525-022-00341-w2 DOI
040 a (SwePub)ki
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Gallego-Martinez, A4 aut
2451 0a Using coding and non-coding rare variants to target candidate genes in patients with severe tinnitus
264 c 2022-11-30
264 1b Springer Science and Business Media LLC,c 2022
520 a 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) and Non-Finish Europeans (NFE) from gnomAD were used as control groups. SEVTIN patients showed a higher prevalence of hyperacusis, hearing loss, and anxiety when they were compared to individuals in the TIGER cohort. We found an enrichment of rare missense variants in 6 and 8 high-constraint genes in SEVTIN and TIGER cohorts, respectively. Of note, an enrichment of missense variants was found in the CACNA1E gene in both SEVTIN and TIGER. We replicated the burden of missense variants in 9 high-constrained genes in the JAGUAR cohort, including the gene NAV2, when data were compared with NFE. Moreover, LSVs in constrained regions overlapping CACNA1E, NAV2, and TMEM132D genes were observed in TIGER and SEVTIN.
7001 a Escalera-Balsera, A4 aut
7001 a Trpchevska, N4 aut
7001 a Robles-Bolivar, P4 aut
7001 a Roman-Naranjo, P4 aut
7001 a Frejo, L4 aut
7001 a Perez-Carpena, P4 aut
7001 a Bulla, J4 aut
7001 a Gallus, S4 aut
7001 a Canlon, Bu Karolinska Institutet4 aut
7001 a Cederroth, CRu Karolinska Institutet4 aut
7001 a Lopez-Escamez, JA4 aut
7102 a Karolinska Institutet4 org
7730 t NPJ genomic medicined : Springer Science and Business Media LLCg 7:1, s. 70-q 7:1<70-x 2056-7944
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:151358220
8564 8u https://doi.org/10.1038/s41525-022-00341-w

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