Evaluation of male fertility-associated loci in a european population of patients with severe spermatogenic impairment
| Autor(a) principal: | |
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| Data de Publicação: | 2021 |
| Outros Autores: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
| Texto Completo: | http://hdl.handle.net/10362/110138 |
Resumo: | Funding: This work was supported by the Spanish Ministry of Economy and Competitiveness through the Spanish State Plan for Scientific and Technical Research and Innovation (ref. SAF2016-78722-R), the “Ramón y Cajal” program (ref. RYC-2014-16458), and the “Juan de la Cierva Incorporación” program (ref. IJC2018-038026-I), which include FEDER funds. SLa received support from the Spanish Ministry of Science and Innovation (grants FIS-ISCIII DTS18/00101, co-funded by FEDER funds/European Regional Development Fund (ERDF)-a way to build Europe-), and from Generalitat de Catalunya (grant 2017SGR191). AG-J was recipient of a grant from the “Plan Propio” program of the University of Granada (“Becas de Iniciación a la Investigación para estudiantes de Grado”, conv.2019). SLa is sponsored by the “Researchers Consolidation Program” from the SNS-Dpt. Salut Generalitat de Catalunya (Exp. CES09/020). JG was partially funded by FCT/MCTES, through national funds attributed to Center for Toxicogenomics and Human Health—ToxOmics (UIDB/00009/2020). PIM is supported by the FCT post-doctoral fellowship (SFRH/BPD/120777/2016), financed from the Portuguese State Budget of the Ministry for Science, Technology and High Education and from the European Social Fund, available through the Programa Operacional do Capital Humano. AML is funded by the Portuguese Government through FCT (IF/01262/2014). IPATIMUP integrates the i3S Research Unit, which is partially supported by FCT in the framework of the project “Institute for Research and Innovation in Health Sciences” (POCI-01-0145-FEDER-007274). |
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Evaluation of male fertility-associated loci in a european population of patients with severe spermatogenic impairmentGenetic association analysisImpaired spermatogenesisInfertilityNon-obstructive azoospermiaSevere oligospermiaSNPsMedicine (miscellaneous)Funding: This work was supported by the Spanish Ministry of Economy and Competitiveness through the Spanish State Plan for Scientific and Technical Research and Innovation (ref. SAF2016-78722-R), the “Ramón y Cajal” program (ref. RYC-2014-16458), and the “Juan de la Cierva Incorporación” program (ref. IJC2018-038026-I), which include FEDER funds. SLa received support from the Spanish Ministry of Science and Innovation (grants FIS-ISCIII DTS18/00101, co-funded by FEDER funds/European Regional Development Fund (ERDF)-a way to build Europe-), and from Generalitat de Catalunya (grant 2017SGR191). AG-J was recipient of a grant from the “Plan Propio” program of the University of Granada (“Becas de Iniciación a la Investigación para estudiantes de Grado”, conv.2019). SLa is sponsored by the “Researchers Consolidation Program” from the SNS-Dpt. Salut Generalitat de Catalunya (Exp. CES09/020). JG was partially funded by FCT/MCTES, through national funds attributed to Center for Toxicogenomics and Human Health—ToxOmics (UIDB/00009/2020). PIM is supported by the FCT post-doctoral fellowship (SFRH/BPD/120777/2016), financed from the Portuguese State Budget of the Ministry for Science, Technology and High Education and from the European Social Fund, available through the Programa Operacional do Capital Humano. AML is funded by the Portuguese Government through FCT (IF/01262/2014). IPATIMUP integrates the i3S Research Unit, which is partially supported by FCT in the framework of the project “Institute for Research and Innovation in Health Sciences” (POCI-01-0145-FEDER-007274).Infertility is a growing concern in developed societies. Two extreme phenotypes of male infertility are non-obstructive azoospermia (NOA) and severe oligospermia (SO), which are characterized by severe spermatogenic failure (SpF). We designed a genetic association study comprising 725 Iberian infertile men as a consequence of SpF and 1058 unaffected controls to evaluate whether five single-nucleotide polymorphisms (SNPs), previously associated with reduced fertility in Hutterites, are also involved in the genetic susceptibility to idiopathic SpF and specific clinical entities. A significant difference in the allele frequencies of USP8-rs7174015 was observed under the recessive model between the NOA group and both the control group (p = 0.0226, OR = 1.33) and the SO group (p = 0.0048, OR = 1.78). Other genetic associations for EPSTI1-rs12870438 and PSAT1-rs7867029 with SO and between TUSC1-rs10966811 and testicular sperm extraction (TESE) success in the context of NOA were observed. In silico analysis of functional annotations demonstrated cis-eQTL effects of such SNPs likely due to the modification of binding motif sites for relevant transcription factors of the spermatogenic process. The findings reported here shed light on the molecular mechanisms leading to severe phenotypes of idiopathic male infertility, and may help to better understand the contribution of the common genetic variation to the development of these conditions.Centre for Toxicogenomics and Human Health (ToxOmics)NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)RUNCerván-Martín, MiriamBossini-Castillo, LaraRivera-Egea, RocíoGarrido, NicolásLuján, SaturninoRomeu, GemaSantos-Ribeiro, SamuelCastilla, José A.Gonzalvo, M. CarmenClavero, AnaVicente, F. JavierGuzmán-Jiménez, AndreaCosta, CláudiaLlinares-Burguet, InésKhantham, ChirananBurgos, MiguelBarrionuevo, Francisco J.Jiménez, RafaelSánchez-Curbelo, JosvanyLópez-Rodrigo, OlgaPeraza, M. FernandaPereira-Caetano, IrisMarques, Patricia I.Carvalho, FilipaBarros, AlbertoBassas, LluísSeixas, SusanaGonçalves, JoãoLarriba, SaraLopes, Alexandra M.Palomino-Morales, Rogelio J.Carmona, F. David2021-01-12T23:24:08Z2021-012021-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article19application/pdfhttp://hdl.handle.net/10362/110138eng2075-4426PURE: 27460281https://doi.org/10.3390/jpm11010022info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-03-11T04:54:10Zoai:run.unl.pt:10362/110138Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:41:34.892910Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
| dc.title.none.fl_str_mv |
Evaluation of male fertility-associated loci in a european population of patients with severe spermatogenic impairment |
| title |
Evaluation of male fertility-associated loci in a european population of patients with severe spermatogenic impairment |
| spellingShingle |
Evaluation of male fertility-associated loci in a european population of patients with severe spermatogenic impairment Cerván-Martín, Miriam Genetic association analysis Impaired spermatogenesis Infertility Non-obstructive azoospermia Severe oligospermia SNPs Medicine (miscellaneous) |
| title_short |
Evaluation of male fertility-associated loci in a european population of patients with severe spermatogenic impairment |
| title_full |
Evaluation of male fertility-associated loci in a european population of patients with severe spermatogenic impairment |
| title_fullStr |
Evaluation of male fertility-associated loci in a european population of patients with severe spermatogenic impairment |
| title_full_unstemmed |
Evaluation of male fertility-associated loci in a european population of patients with severe spermatogenic impairment |
| title_sort |
Evaluation of male fertility-associated loci in a european population of patients with severe spermatogenic impairment |
| author |
Cerván-Martín, Miriam |
| author_facet |
Cerván-Martín, Miriam Bossini-Castillo, Lara Rivera-Egea, Rocío Garrido, Nicolás Luján, Saturnino Romeu, Gema Santos-Ribeiro, Samuel Castilla, José A. Gonzalvo, M. Carmen Clavero, Ana Vicente, F. Javier Guzmán-Jiménez, Andrea Costa, Cláudia Llinares-Burguet, Inés Khantham, Chiranan Burgos, Miguel Barrionuevo, Francisco J. Jiménez, Rafael Sánchez-Curbelo, Josvany López-Rodrigo, Olga Peraza, M. Fernanda Pereira-Caetano, Iris Marques, Patricia I. Carvalho, Filipa Barros, Alberto Bassas, Lluís Seixas, Susana Gonçalves, João Larriba, Sara Lopes, Alexandra M. Palomino-Morales, Rogelio J. Carmona, F. David |
| author_role |
author |
| author2 |
Bossini-Castillo, Lara Rivera-Egea, Rocío Garrido, Nicolás Luján, Saturnino Romeu, Gema Santos-Ribeiro, Samuel Castilla, José A. Gonzalvo, M. Carmen Clavero, Ana Vicente, F. Javier Guzmán-Jiménez, Andrea Costa, Cláudia Llinares-Burguet, Inés Khantham, Chiranan Burgos, Miguel Barrionuevo, Francisco J. Jiménez, Rafael Sánchez-Curbelo, Josvany López-Rodrigo, Olga Peraza, M. Fernanda Pereira-Caetano, Iris Marques, Patricia I. Carvalho, Filipa Barros, Alberto Bassas, Lluís Seixas, Susana Gonçalves, João Larriba, Sara Lopes, Alexandra M. Palomino-Morales, Rogelio J. Carmona, F. David |
| 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 |
| dc.contributor.none.fl_str_mv |
Centre for Toxicogenomics and Human Health (ToxOmics) NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM) RUN |
| dc.contributor.author.fl_str_mv |
Cerván-Martín, Miriam Bossini-Castillo, Lara Rivera-Egea, Rocío Garrido, Nicolás Luján, Saturnino Romeu, Gema Santos-Ribeiro, Samuel Castilla, José A. Gonzalvo, M. Carmen Clavero, Ana Vicente, F. Javier Guzmán-Jiménez, Andrea Costa, Cláudia Llinares-Burguet, Inés Khantham, Chiranan Burgos, Miguel Barrionuevo, Francisco J. Jiménez, Rafael Sánchez-Curbelo, Josvany López-Rodrigo, Olga Peraza, M. Fernanda Pereira-Caetano, Iris Marques, Patricia I. Carvalho, Filipa Barros, Alberto Bassas, Lluís Seixas, Susana Gonçalves, João Larriba, Sara Lopes, Alexandra M. Palomino-Morales, Rogelio J. Carmona, F. David |
| dc.subject.por.fl_str_mv |
Genetic association analysis Impaired spermatogenesis Infertility Non-obstructive azoospermia Severe oligospermia SNPs Medicine (miscellaneous) |
| topic |
Genetic association analysis Impaired spermatogenesis Infertility Non-obstructive azoospermia Severe oligospermia SNPs Medicine (miscellaneous) |
| description |
Funding: This work was supported by the Spanish Ministry of Economy and Competitiveness through the Spanish State Plan for Scientific and Technical Research and Innovation (ref. SAF2016-78722-R), the “Ramón y Cajal” program (ref. RYC-2014-16458), and the “Juan de la Cierva Incorporación” program (ref. IJC2018-038026-I), which include FEDER funds. SLa received support from the Spanish Ministry of Science and Innovation (grants FIS-ISCIII DTS18/00101, co-funded by FEDER funds/European Regional Development Fund (ERDF)-a way to build Europe-), and from Generalitat de Catalunya (grant 2017SGR191). AG-J was recipient of a grant from the “Plan Propio” program of the University of Granada (“Becas de Iniciación a la Investigación para estudiantes de Grado”, conv.2019). SLa is sponsored by the “Researchers Consolidation Program” from the SNS-Dpt. Salut Generalitat de Catalunya (Exp. CES09/020). JG was partially funded by FCT/MCTES, through national funds attributed to Center for Toxicogenomics and Human Health—ToxOmics (UIDB/00009/2020). PIM is supported by the FCT post-doctoral fellowship (SFRH/BPD/120777/2016), financed from the Portuguese State Budget of the Ministry for Science, Technology and High Education and from the European Social Fund, available through the Programa Operacional do Capital Humano. AML is funded by the Portuguese Government through FCT (IF/01262/2014). IPATIMUP integrates the i3S Research Unit, which is partially supported by FCT in the framework of the project “Institute for Research and Innovation in Health Sciences” (POCI-01-0145-FEDER-007274). |
| publishDate |
2021 |
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2021-01-12T23:24:08Z 2021-01 2021-01-01T00:00:00Z |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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article |
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publishedVersion |
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http://hdl.handle.net/10362/110138 |
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http://hdl.handle.net/10362/110138 |
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eng |
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eng |
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2075-4426 PURE: 27460281 https://doi.org/10.3390/jpm11010022 |
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info:eu-repo/semantics/openAccess |
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openAccess |
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19 application/pdf |
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