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Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study

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dc.contributor.authorAmanat, Sana
dc.contributor.authorGallego-Martinez, Alvaro
dc.contributor.authorSollini, Joseph
dc.contributor.authorPerez-Carpena, Patricia
dc.contributor.authorEspinosa-Sanchez, Juan M.
dc.contributor.authorAran, Ismael
dc.contributor.authorSoto-Varela, Andres
dc.contributor.authorBatuecas-Caletrio, Angel
dc.contributor.authorCanlon, Barbara
dc.contributor.authorMay, Patrick
dc.contributor.authorCederroth, Christopher R.
dc.contributor.authorLopez-Escamez, Jose A.
dc.contributor.authoraffiliation[Amanat,S; Gallego-Martinez,A; Perez-Carpena,P; Espinosa-Sanchez,JM; Lopez-Escamez,JA] a Otology & Neurotology Group CTS495, Department of Genomic Medicine, GENYO-Centre for Genomics and Oncological Research-Pfizer/University of Granada/ Junta de Andalucía, PTS, Granada, Spain. [Sollini,J; Cederroth,CR] Hearing Sciences, Division of Clinical Neuroscience, School of Medicine, University of Nottingham, Nottingham, UK. [Perez-Carpena,P; Espinosa-Sanchez,JM; Lopez-Escamez,JA] c Department of Otolaryngology, Instituto de Investigacion Biosanitaria, ibs.Granada, Hospital Universitario Virgen de las Nieves, Granada, Spain. [Aran,I] Department of Otolaryngology, Complexo Hospitalario de Pontevedra, Pontevedra, Spain. [Soto-Varela,A] e Division of Otoneurology, Department of Otorhinolaryngology, Complexo Hospitalario Universitario, Santiago de Compostela, Spain. [Batuecas-Caletrio,A] Department of Otolaryngology, Hospital Universitario de Salamanca, IBSAL Salamanca, Spain. [Canlon,B; Cederroth,CR] Laboratory of Experimental Audiology, Department of Physiology and Pharmacology, Karolinska Institute, Stockholm, Sweden. [May,P] Bioinformatics Core, Luxembourg Centre for System Biomedicine, University of Luxemburg, Esch-sur-Alzette, Luxembourg. [Cederroth,CR] National Institute for Health Research (NIHR) Nottingham Biomedical Research Centre, Nottingham University Hospitals NHS Trust, Ropewalk House, Nottingham, UK. [Lopez-Escamez,JA] Department of Surgery, Division of Otolaryngology, University of Granada, Granada, Spain
dc.contributor.funderThis study has been funded by H2020 MSCA-ITN-2016–722046, the H2020-SC1-2019-848261, and the GNP-182 GENDER-Net Co-Plus Fund (JALE and CRC). The project leading to these results has received funding from “la Caixa” Foundation (ID 100010434), under agreement LCF/PR/DE18/52010002 (JALE). This project is a part of European School of Interdisciplinary Tinnitus (ESIT) research and Sana Amanat is a PhD student in Biomedicine Program at the University of Granada. CRC received additional funding from Svenska Läkaresällskapet (SLS- 779681 ), Hörselforskningsfonden (503). The data handling for STOP and SweGen cohorts were enabled by resources provided by the Swedish National Infrastructure for Computing (SNIC) at UPPMAX partially funded by the Swedish Research Council through Grant agreement No. 2018-05973 . The time provided by JS was funded by the University of Nottingham, Nottingham Research Fellowship. PM was supported by the BMBF Treat-ION Grant ( 01GM1907 ) and the DFG Research Unit FOR2715 (FNR INTER/DFG/17/ 11583046 ).
dc.date.accessioned2022-09-26T10:13:25Z
dc.date.available2022-09-26T10:13:25Z
dc.date.issued2021-04-01
dc.description.abstracttinnitus is a heterogeneous condition associated with audiological and/or mental disorders. Chronic, severe tinnitus is reported in 1% of the population and it shows a relevant heritability, according to twins, adoptees and familial aggregation studies. The genetic contribution to severe tinnitus is unknown since large genomic studies include individuals with self-reported tinnitus and large heterogeneity in the phenotype. The aim of this study was to identify genes for severe tinnitus in patients with extreme phenotype.es_ES
dc.description.versionYeses_ES
dc.identifier.citationAmanat S, Gallego-Martinez A, Sollini J, Perez-Carpena P, Espinosa-Sanchez JM, Aran I, et al. Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study. EBioMedicine. 2021 Apr;66:103309. doi: 10.1016/j.ebiom.2021.103309.es_ES
dc.identifier.doi10.1016/j.ebiom.2021.103309es_ES
dc.identifier.essn2352-3964
dc.identifier.pmcPMC8047463
dc.identifier.pmid33813136es_ES
dc.identifier.urihttp://hdl.handle.net/10668/4136
dc.journal.titleEBioMedicine
dc.language.isoen
dc.page.number9 p.
dc.publisherElsevier B.V.es_ES
dc.relation.publisherversionhttps://www.thelancet.com/journals/ebiom/article/PIIS2352-3964(21)00102-X/fulltextes_ES
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internacional*
dc.rights.accessRightsAcceso abiertoes_ES
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.subjectTinnituses_ES
dc.subjectExtreme phenotypees_ES
dc.subjectAxon initial segmentes_ES
dc.subjectExome sequencinges_ES
dc.subjectMeniere diseasees_ES
dc.subjectEpilepsyes_ES
dc.subjectGenetic studieses_ES
dc.subjectAcúfenoes_ES
dc.subjectFenotipoes_ES
dc.subjectSegmento inicial del axónes_ES
dc.subjectSecuenciación del exoma completoes_ES
dc.subjectEnfermedad de Menierees_ES
dc.subjectEpilepsiaes_ES
dc.subjectEstudios de asociación genéticaes_ES
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleleses_ES
dc.subject.meshMedical Subject Headings::Organisms::Eukaryota::Animalses_ES
dc.subject.meshMedical Subject Headings::Anatomy::Nervous System::Central Nervous System::Braines_ES
dc.subject.meshMedical Subject Headings::Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Computational Biologyes_ES
dc.subject.meshMedical Subject Headings::Check Tags::Femalees_ES
dc.subject.meshMedical Subject Headings::Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Genetics::Genetic Research::Gene Ontologyes_ES
dc.subject.meshMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Association Studieses_ES
dc.subject.meshMedical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humanses_ES
dc.subject.meshMedical Subject Headings::Check Tags::Malees_ES
dc.subject.meshMedical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Rodentia::Muridae::Murinae::Micees_ES
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotypees_ES
dc.subject.meshMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Health Surveys::Health Status Indicators::Patient Acuity::Severity of Illness Indexes_ES
dc.subject.meshMedical Subject Headings::Geographical Locations::Geographic Locations::Europe::Scandinavia::Swedenes_ES
dc.subject.meshMedical Subject Headings::Anatomy::Nervous System::Synapseses_ES
dc.subject.meshMedical Subject Headings::Diseases::Otorhinolaryngologic Diseases::Ear Diseases::Hearing Disorders::Tinnituses_ES
dc.subject.meshMedical Subject Headings::Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Diseasees_ES
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variationes_ES
dc.subject.meshMedical Subject Headings::Diseases::Otorhinolaryngologic Diseases::Ear Diseases::Labyrinth Diseases::Endolymphatic Hydrops::Meniere Diseasees_ES
dc.subject.meshMedical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Questionnaires::Self Reportes_ES
dc.subject.meshMedical Subject Headings::Diseases::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Epilepsy::Epilepsy, Generalizedes_ES
dc.subject.meshMedical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Cytoskeletal Proteinses_ES
dc.subject.meshMedical Subject Headings::Phenomena and Processes::Biological Phenomenaes_ES
dc.subject.meshMedical Subject Headings::Psychiatry and Psychology::Mental Disorderses_ES
dc.subject.meshMedical Subject Headings::Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Genetics::Genomicses_ES
dc.subject.meshMedical Subject Headings::Anatomy::Nervous System::Neuronses_ES
dc.titleBurden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype studyes_ES
dc.typeresearch article
dc.type.hasVersionVoR
dspace.entity.typePublication

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