A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure

Can genome-wide genotyping data be analysed using a hypothesis-driven approach to enhance the understanding of the genetic basis of severe spermatogenic failure (SPGF) in male infertility?

Detalles Bibliográficos
Autores: Guzmán-Jimenez, Andrea, González-Muñoz, Sara, Cerván-Martín, Miriam, Garrido, Nicolás, Castilla, José A., Gonzalvo, María Carmen, Clavero, Ana, Molina, Marta, Luján, Saturnino, Santos-Ribeiro, Samuel, Vilches, Miguel Ángel, Espuch, Andrea, Maldonado, Vicente, Galiano-Gutiérrez, Noelia, Santamaría-López, Esther, González-Ravina, Cristina, Quintana-Ferraz, Fernando, Gómez, Susana, Amorós, David, Martínez-Granados, Luis, Ortega-González, Yanira, Burgos, Miguel, Pereira-Caetano, Iris, Bulbul, Ozgur, Castellano, Stefano, Romano, Massimo, Albani, Elena, Bassas, Lluis, Seixas, Susana, Gonçalves, João, Lopes, Alexandra M., Larriba, Sara, Palomino-Morales, Rogelio, Carmona, Francisco David, Bossini-Castillo, Lara
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2024
País:España
Institución:Consejo Superior de Investigaciones Científicas (CSIC)
Repositorio:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/391794
Acceso en línea:http://hdl.handle.net/10261/391794
https://api.elsevier.com/content/abstract/scopus_id/85212334340
Access Level:acceso abierto
Palabra clave:Genetics
Idiopathic spermatogenic failure
Male infertility
Monogenic mutations
Polygenic susceptibility
Spermatogenesis
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spelling A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failureGuzmán-Jimenez, AndreaGonzález-Muñoz, SaraCerván-Martín, MiriamGarrido, NicolásCastilla, José A.Gonzalvo, María CarmenClavero, AnaMolina, MartaLuján, SaturninoSantos-Ribeiro, SamuelVilches, Miguel ÁngelEspuch, AndreaMaldonado, VicenteGaliano-Gutiérrez, NoeliaSantamaría-López, EstherGonzález-Ravina, CristinaQuintana-Ferraz, FernandoGómez, SusanaAmorós, DavidMartínez-Granados, LuisOrtega-González, YaniraBurgos, MiguelPereira-Caetano, IrisBulbul, OzgurCastellano, StefanoRomano, MassimoAlbani, ElenaBassas, LluisSeixas, SusanaGonçalves, JoãoLopes, Alexandra M.Larriba, SaraPalomino-Morales, RogelioCarmona, Francisco DavidBossini-Castillo, LaraGeneticsIdiopathic spermatogenic failureMale infertilityMonogenic mutationsPolygenic susceptibilitySpermatogenesisCan genome-wide genotyping data be analysed using a hypothesis-driven approach to enhance the understanding of the genetic basis of severe spermatogenic failure (SPGF) in male infertility?Spanish Ministry of Science and Innovation through the Spanish National Plan for Scientific and Technical Research and Innovation (PID2020-120157RB-I00) and the Andalusian Government through the research projects of ‘Plan Andaluz de Investigación, Desarrollo e Innovación (PAIDI 2020)’ (ref. PY20_00212) and ‘Proyectos de Investigación aplicada FEDER-UGR 2023’ (ref. C-CTS-273-UGR23). S.G.-M. was funded by the previously mentioned projects (ref. PY20_00212 and PID2020-120157RB-I00). A.G.-J. was funded by MCIN/AEI/10.13039/501100011033 and FSE ‘El FSE invierte en tu futuro’ (grant ref. FPU20/02926). IPATIMUP integrates the i3S Research Unit, which is partially supported by the Portuguese Foundation for Science and Technology (FCT), financed by the European Social Funds (COMPETE-FEDER) and National Funds (projects PEstC/SAU/LA0003/2013 and POCI-01-0145-FEDER-007274). S.S. is supported by FCT funds (10.54499/DL57/2016/CP1363/CT0019), ToxOmics-Centre for Toxicogenomics and Human Health, Genetics, Oncology and Human Toxicology, and is also partially supported by the Portuguese Foundation for Science and Technology (UIDP/00009/2020 and UIDB/00009/2020). S. Larriba received support from Instituto de Salud Carlos III (grant: DTS18/00101), co-funded by FEDER funds/European Regional Development Fund (ERDF)—a way to build Europe and from ‘Generalitat de Catalunya’ (grant 2021SGR052). S. Larriba is also sponsored by the ‘Researchers Consolidation Program’ from the SNS-Dpt. Salut Generalitat de Catalunya (Exp. CES09/020).Peer reviewedOxford University PressMinisterio de Ciencia e Innovación (España)Agencia Estatal de Investigación (España)Junta de AndalucíaFundação para a Ciência e a Tecnologia (Portugal)European CommissionInstituto de Salud Carlos IIIGeneralitat de CatalunyaCerván-Martín, Miriam [0000-0001-6033-0587]Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]202520252024info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501Publisher's versioninfo:eu-repo/semantics/publishedVersionapplication/pdfhttp://hdl.handle.net/10261/391794https://api.elsevier.com/content/abstract/scopus_id/85212334340reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)Inglés#PLACEHOLDER_PARENT_METADATA_VALUE#info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/PID2020-120157RB-I00The underlying dataset has been published as supplementary material of the article in the publisher platform at DOI 10.1093/hropen/hoae069https://doi.org/10.1093/hropen/hoae069Síinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/3917942026-05-22T06:33:51Z
dc.title.none.fl_str_mv A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure
title A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure
spellingShingle A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure
Guzmán-Jimenez, Andrea
Genetics
Idiopathic spermatogenic failure
Male infertility
Monogenic mutations
Polygenic susceptibility
Spermatogenesis
title_short A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure
title_full A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure
title_fullStr A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure
title_full_unstemmed A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure
title_sort A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure
dc.creator.none.fl_str_mv Guzmán-Jimenez, Andrea
González-Muñoz, Sara
Cerván-Martín, Miriam
Garrido, Nicolás
Castilla, José A.
Gonzalvo, María Carmen
Clavero, Ana
Molina, Marta
Luján, Saturnino
Santos-Ribeiro, Samuel
Vilches, Miguel Ángel
Espuch, Andrea
Maldonado, Vicente
Galiano-Gutiérrez, Noelia
Santamaría-López, Esther
González-Ravina, Cristina
Quintana-Ferraz, Fernando
Gómez, Susana
Amorós, David
Martínez-Granados, Luis
Ortega-González, Yanira
Burgos, Miguel
Pereira-Caetano, Iris
Bulbul, Ozgur
Castellano, Stefano
Romano, Massimo
Albani, Elena
Bassas, Lluis
Seixas, Susana
Gonçalves, João
Lopes, Alexandra M.
Larriba, Sara
Palomino-Morales, Rogelio
Carmona, Francisco David
Bossini-Castillo, Lara
author Guzmán-Jimenez, Andrea
author_facet Guzmán-Jimenez, Andrea
González-Muñoz, Sara
Cerván-Martín, Miriam
Garrido, Nicolás
Castilla, José A.
Gonzalvo, María Carmen
Clavero, Ana
Molina, Marta
Luján, Saturnino
Santos-Ribeiro, Samuel
Vilches, Miguel Ángel
Espuch, Andrea
Maldonado, Vicente
Galiano-Gutiérrez, Noelia
Santamaría-López, Esther
González-Ravina, Cristina
Quintana-Ferraz, Fernando
Gómez, Susana
Amorós, David
Martínez-Granados, Luis
Ortega-González, Yanira
Burgos, Miguel
Pereira-Caetano, Iris
Bulbul, Ozgur
Castellano, Stefano
Romano, Massimo
Albani, Elena
Bassas, Lluis
Seixas, Susana
Gonçalves, João
Lopes, Alexandra M.
Larriba, Sara
Palomino-Morales, Rogelio
Carmona, Francisco David
Bossini-Castillo, Lara
author_role author
author2 González-Muñoz, Sara
Cerván-Martín, Miriam
Garrido, Nicolás
Castilla, José A.
Gonzalvo, María Carmen
Clavero, Ana
Molina, Marta
Luján, Saturnino
Santos-Ribeiro, Samuel
Vilches, Miguel Ángel
Espuch, Andrea
Maldonado, Vicente
Galiano-Gutiérrez, Noelia
Santamaría-López, Esther
González-Ravina, Cristina
Quintana-Ferraz, Fernando
Gómez, Susana
Amorós, David
Martínez-Granados, Luis
Ortega-González, Yanira
Burgos, Miguel
Pereira-Caetano, Iris
Bulbul, Ozgur
Castellano, Stefano
Romano, Massimo
Albani, Elena
Bassas, Lluis
Seixas, Susana
Gonçalves, João
Lopes, Alexandra M.
Larriba, Sara
Palomino-Morales, Rogelio
Carmona, Francisco David
Bossini-Castillo, Lara
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Ministerio de Ciencia e Innovación (España)
Agencia Estatal de Investigación (España)
Junta de Andalucía
Fundação para a Ciência e a Tecnologia (Portugal)
European Commission
Instituto de Salud Carlos III
Generalitat de Catalunya
Cerván-Martín, Miriam [0000-0001-6033-0587]
Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv Genetics
Idiopathic spermatogenic failure
Male infertility
Monogenic mutations
Polygenic susceptibility
Spermatogenesis
topic Genetics
Idiopathic spermatogenic failure
Male infertility
Monogenic mutations
Polygenic susceptibility
Spermatogenesis
description Can genome-wide genotyping data be analysed using a hypothesis-driven approach to enhance the understanding of the genetic basis of severe spermatogenic failure (SPGF) in male infertility?
publishDate 2024
dc.date.none.fl_str_mv 2024
2025
2025
dc.type.none.fl_str_mv info:eu-repo/semantics/article
http://purl.org/coar/resource_type/c_6501
Publisher's version
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/391794
https://api.elsevier.com/content/abstract/scopus_id/85212334340
url http://hdl.handle.net/10261/391794
https://api.elsevier.com/content/abstract/scopus_id/85212334340
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv #PLACEHOLDER_PARENT_METADATA_VALUE#
info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/PID2020-120157RB-I00
The underlying dataset has been published as supplementary material of the article in the publisher platform at DOI 10.1093/hropen/hoae069
https://doi.org/10.1093/hropen/hoae069
Sí
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Oxford University Press
publisher.none.fl_str_mv Oxford University Press
dc.source.none.fl_str_mv reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC
instname:Consejo Superior de Investigaciones Científicas (CSIC)
instname_str Consejo Superior de Investigaciones Científicas (CSIC)
reponame_str DIGITAL.CSIC. Repositorio Institucional del CSIC
collection DIGITAL.CSIC. Repositorio Institucional del CSIC
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,811543

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