Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma

Glaucoma primari; Hereditari; Al·lels hipomòrfics

Detalhes bibliográficos
Autores: Laguna, Javier, Pascual, Beatriz, GAMUNDI RODRIGUEZ, MARIA JOSE, Borras, Emma, Carballo, Miguel, MILLA, ELENA, Alforja, Socorro, HERNAN SENDRA, IMMA
Formato: artículo
Fecha de publicación:2024
País:España
Recursos:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:11351/11280
Acesso em linha:https://hdl.handle.net/11351/11280
http://hdl.handle.net/11351/11280
Access Level:acceso abierto
Palavra-chave:Glaucoma d'angle obert
Glaucoma - Diagnòstic
Ulls - Malalties
DISEASES::Eye Diseases::Ocular Hypertension::Glaucoma::Glaucoma, Open-Angle
Other subheadings::Other subheadings::/diagnosis
Other subheadings::Other subheadings::Other subheadings::/genetics
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Genetic Techniques::Sequence Analysis::High-Throughput Nucleotide Sequencing
ENFERMEDADES::oftalmopatías::hipertensión ocular::glaucoma::glaucoma de ángulo abierto
Otros calificadores::Otros calificadores::/diagnóstico
Otros calificadores::Otros calificadores::/genética
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::técnicas genéticas::análisis de secuencias::secuenciación de nucleótidos de alto rendimiento
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network_acronym_str ES
network_name_str España
repository_id_str
spelling Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucomaLaguna, JavierPascual, BeatrizGAMUNDI RODRIGUEZ, MARIA JOSEBorras, EmmaCarballo, MiguelMILLA, ELENAAlforja, SocorroHERNAN SENDRA, IMMAGlaucoma d'angle obertGlaucoma - DiagnòsticUlls - MalaltiesDISEASES::Eye Diseases::Ocular Hypertension::Glaucoma::Glaucoma, Open-AngleOther subheadings::Other subheadings::/diagnosisOther subheadings::Other subheadings::Other subheadings::/geneticsANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Genetic Techniques::Sequence Analysis::High-Throughput Nucleotide SequencingENFERMEDADES::oftalmopatías::hipertensión ocular::glaucoma::glaucoma de ángulo abiertoOtros calificadores::Otros calificadores::/diagnósticoOtros calificadores::Otros calificadores::/genéticaTÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::técnicas genéticas::análisis de secuencias::secuenciación de nucleótidos de alto rendimientoGlaucoma primari; Hereditari; Al·lels hipomòrficsGlaucoma primario; Hereditario; Alelos hipomórficosGlaucoma, primary; Hereditary; Hypomorphic allelesPrimary open-angle glaucoma (POAG) is a complex disease with a strong hereditably component. Several genetic variants have recently been associated with POAG, partially due to technological improvements such as next-generation sequencing (NGS). The aim of this study was to genetically analyze patients with POAG to determine the contribution of rare variants and hypomorphic alleles associated with glaucoma as a future method of diagnosis and early treatment. Seventy-two genes potentially associated with adult glaucoma were studied in 61 patients with POAG. Additionally, we sequenced the coding sequence of CYP1B1 gene in 13 independent patients to deep analyze the potential association of hypomorphic CYP1B1 alleles in the pathogenesis of POAG. We detected nine rare variants in 16% of POAG patients studied by NGS. Those rare variants are located in CYP1B1, SIX6, CARD10, MFN1, OPTC, OPTN, and WDR36 glaucoma-related genes. Hypomorphic variants in CYP1B1 and SIX6 genes have been identified in 8% of the total POAG patient assessed. Our findings suggest that NGS could be a valuable tool to clarify the impact of genetic component on adult glaucoma. However, in order to demonstrate the contribution of these rare variants and hypomorphic alleles to glaucoma, segregation and functional studies would be necessary. The identification of new variants and hypomorphic alleles in glaucoma patients will help to configure the genetic identity of these patients, in order to make an early and precise molecular diagnosis.Public Library of Science[Milla E] Glaucoma, Institut Clínic d'Oftalmologia (ICOF), Hospital Clínic de Barcelona, Barcelona, Spain. Innova Ocular-ICO, Barcelona, Spain. [Laguna J] Servei de Bioquímica i Genètica Molecular, Centre de Diagnòstic Biomèdic (CDB), Hospital Clínic de Barcelona, Barcelona, Spain. [Alforja MS] Glaucoma, Institut Clínic d'Oftalmologia (ICOF), Hospital Clínic de Barcelona, Barcelona, Spain. [Pascual B, Gamundi MJ, Borràs E, Hernán I, Carballo M] Molecular Genetics Unit, Hospital de Terrassa, Terrassa, SpainConsorci Sanitari de Terrassa202420242024info:eu-repo/semantics/articlepdfapplication/pdfhttps://hdl.handle.net/11351/11280http://hdl.handle.net/11351/11280Scientiareponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésPublic Library of Science;19 (1)http://doi.org/10.1371/journal.pone.0282133Attribution-NonCommercial 4.0 Internationalhttp://creativecommons.org/licenses/by-nc/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:11351/112802026-05-29T05:05:01Z
dc.title.none.fl_str_mv Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma
title Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma
spellingShingle Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma
Laguna, Javier
Glaucoma d'angle obert
Glaucoma - Diagnòstic
Ulls - Malalties
DISEASES::Eye Diseases::Ocular Hypertension::Glaucoma::Glaucoma, Open-Angle
Other subheadings::Other subheadings::/diagnosis
Other subheadings::Other subheadings::Other subheadings::/genetics
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Genetic Techniques::Sequence Analysis::High-Throughput Nucleotide Sequencing
ENFERMEDADES::oftalmopatías::hipertensión ocular::glaucoma::glaucoma de ángulo abierto
Otros calificadores::Otros calificadores::/diagnóstico
Otros calificadores::Otros calificadores::/genética
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::técnicas genéticas::análisis de secuencias::secuenciación de nucleótidos de alto rendimiento
title_short Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma
title_full Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma
title_fullStr Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma
title_full_unstemmed Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma
title_sort Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma
dc.creator.none.fl_str_mv Laguna, Javier
Pascual, Beatriz
GAMUNDI RODRIGUEZ, MARIA JOSE
Borras, Emma
Carballo, Miguel
MILLA, ELENA
Alforja, Socorro
HERNAN SENDRA, IMMA
author Laguna, Javier
author_facet Laguna, Javier
Pascual, Beatriz
GAMUNDI RODRIGUEZ, MARIA JOSE
Borras, Emma
Carballo, Miguel
MILLA, ELENA
Alforja, Socorro
HERNAN SENDRA, IMMA
author_role author
author2 Pascual, Beatriz
GAMUNDI RODRIGUEZ, MARIA JOSE
Borras, Emma
Carballo, Miguel
MILLA, ELENA
Alforja, Socorro
HERNAN SENDRA, IMMA
author2_role author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv [Milla E] Glaucoma, Institut Clínic d'Oftalmologia (ICOF), Hospital Clínic de Barcelona, Barcelona, Spain. Innova Ocular-ICO, Barcelona, Spain. [Laguna J] Servei de Bioquímica i Genètica Molecular, Centre de Diagnòstic Biomèdic (CDB), Hospital Clínic de Barcelona, Barcelona, Spain. [Alforja MS] Glaucoma, Institut Clínic d'Oftalmologia (ICOF), Hospital Clínic de Barcelona, Barcelona, Spain. [Pascual B, Gamundi MJ, Borràs E, Hernán I, Carballo M] Molecular Genetics Unit, Hospital de Terrassa, Terrassa, Spain
Consorci Sanitari de Terrassa
dc.subject.none.fl_str_mv Glaucoma d'angle obert
Glaucoma - Diagnòstic
Ulls - Malalties
DISEASES::Eye Diseases::Ocular Hypertension::Glaucoma::Glaucoma, Open-Angle
Other subheadings::Other subheadings::/diagnosis
Other subheadings::Other subheadings::Other subheadings::/genetics
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Genetic Techniques::Sequence Analysis::High-Throughput Nucleotide Sequencing
ENFERMEDADES::oftalmopatías::hipertensión ocular::glaucoma::glaucoma de ángulo abierto
Otros calificadores::Otros calificadores::/diagnóstico
Otros calificadores::Otros calificadores::/genética
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::técnicas genéticas::análisis de secuencias::secuenciación de nucleótidos de alto rendimiento
topic Glaucoma d'angle obert
Glaucoma - Diagnòstic
Ulls - Malalties
DISEASES::Eye Diseases::Ocular Hypertension::Glaucoma::Glaucoma, Open-Angle
Other subheadings::Other subheadings::/diagnosis
Other subheadings::Other subheadings::Other subheadings::/genetics
ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Genetic Techniques::Sequence Analysis::High-Throughput Nucleotide Sequencing
ENFERMEDADES::oftalmopatías::hipertensión ocular::glaucoma::glaucoma de ángulo abierto
Otros calificadores::Otros calificadores::/diagnóstico
Otros calificadores::Otros calificadores::/genética
TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::técnicas genéticas::análisis de secuencias::secuenciación de nucleótidos de alto rendimiento
description Glaucoma primari; Hereditari; Al·lels hipomòrfics
publishDate 2024
dc.date.none.fl_str_mv 2024
2024
2024
dc.type.none.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://hdl.handle.net/11351/11280
http://hdl.handle.net/11351/11280
url https://hdl.handle.net/11351/11280
http://hdl.handle.net/11351/11280
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Public Library of Science;19 (1)
http://doi.org/10.1371/journal.pone.0282133
dc.rights.none.fl_str_mv Attribution-NonCommercial 4.0 International
http://creativecommons.org/licenses/by-nc/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Attribution-NonCommercial 4.0 International
http://creativecommons.org/licenses/by-nc/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv pdf
application/pdf
dc.publisher.none.fl_str_mv Public Library of Science
publisher.none.fl_str_mv Public Library of Science
dc.source.none.fl_str_mv Scientia
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.812455

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