Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia
| Autor(a) principal: | |
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| Data de Publicação: | 2022 |
| 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/10400.18/8495 |
Resumo: | Lisbon clinical group co-authors and IVIRMA group co-authors Ana Aguiar, (Unidade de Medicina da Reproducao, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal); Carlos Calhaz-Jorge, (Unidade de Medicina da Reproducao, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal); Joaquim Nunes, (Unidade de Medicina da Reproducao, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal); Sandra Sousa (Unidade de Medicina da Reproducao, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal), and Sónia Correia (Centro de Medicina Reprodutiva, Maternidade Alfredo da Costa, Centro Hospitalar Lisboa Central, Lisboa, Portugal); Maria Graça Pinto(Centro de Medicina Reprodutiva, Maternidade Alfredo da Costa, Centro Hospitalar Lisboa Central, Lisboa, Portugal). Alberto Pacheco, (IVIRMA Madrid, Spain); Cristina González, (IVIRMA Sevilla, Spain); Susana Gómez, (IVIRMA Lisboa, Portugal); David Amorós, (IVIRMA Barcelona, Spain); Jesús Aguilar, (IVIRMA Vigo, Spain); Fernando Quintana, (IVIRMA Bilbao, Spain). |
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Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermiaOligozoospermiaSpermatogenesisTEX15Genética HumanaDoenças GenéticasLisbon clinical group co-authors and IVIRMA group co-authors Ana Aguiar, (Unidade de Medicina da Reproducao, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal); Carlos Calhaz-Jorge, (Unidade de Medicina da Reproducao, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal); Joaquim Nunes, (Unidade de Medicina da Reproducao, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal); Sandra Sousa (Unidade de Medicina da Reproducao, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal), and Sónia Correia (Centro de Medicina Reprodutiva, Maternidade Alfredo da Costa, Centro Hospitalar Lisboa Central, Lisboa, Portugal); Maria Graça Pinto(Centro de Medicina Reprodutiva, Maternidade Alfredo da Costa, Centro Hospitalar Lisboa Central, Lisboa, Portugal). Alberto Pacheco, (IVIRMA Madrid, Spain); Cristina González, (IVIRMA Sevilla, Spain); Susana Gómez, (IVIRMA Lisboa, Portugal); David Amorós, (IVIRMA Barcelona, Spain); Jesús Aguilar, (IVIRMA Vigo, Spain); Fernando Quintana, (IVIRMA Bilbao, Spain).Background: Severe spermatogenic failure (SPGF) represents one of the most relevant causes of male infertility. This pathological condition can lead to extreme abnormalities in the seminal sperm count, such as severe oligozoospermia (SO) or non-obstructive azoospermia (NOA). Most cases of SPGF have an unknown aetiology, and it is known that this idiopathic form of male infertility represents a complex condition. In this study, we aimed to evaluate whether common genetic variation in TEX15, which encodes a key player in spermatogenesis, is involved in the susceptibility to idiopathic SPGF. Materials and Methods: We designed a genetic association study comprising a total of 727 SPGF cases (including 527 NOA and 200 SO) and 1,058 unaffected men from the Iberian Peninsula. Following a tagging strategy, three tag single-nucleotide polymorphisms (SNPs) of TEX15 (rs1362912, rs323342, and rs323346) were selected for genotyping using TaqMan probes. Case-control association tests were then performed by logistic regression models. In silico analyses were also carried out to shed light into the putative functional implications of the studied variants. Results: A significant increase in TEX15-rs1362912 minor allele frequency (MAF) was observed in the group of SO patients (MAF = 0.0842) compared to either the control cohort (MAF = 0.0468, OR = 1.90, p = 7.47E-03) or the NOA group (MAF = 0.0472, OR = 1.83, p = 1.23E-02). The genotype distribution of the SO population was also different from those of both control (p = 1.14E-02) and NOA groups (p = 4.33–02). The analysis of functional annotations of the human genome suggested that the effect of the SO-associated TEX15 variants is likely exerted by alteration of the binding affinity of crucial transcription factors for spermatogenesis. Conclusion: Our results suggest that common variation in TEX15 is involved in the genetic predisposition to SO, thus supporting the notion of idiopathic SPGF as a complex trait.This work was supported by the Spanish Ministry of Science and Innovation through the Spanish National Plan for Scientific and Technical Research and Innovation (PID 2020-120157RB-I00) and the Andalusian Government through the research projects of “Plan Andaluz de Investigacion, Desarrollo e Innovacion (PAIDI 2020)” (ref. PY20_00212) and “Programa Operativo FEDER 2020” (ref. B-CTS-584-UGR20). LB-C was supported by the Spanish Ministry of Science and Innovation through the “Juan de la Cierva Incorporacion” program (Grant ref. IJC 2018-038026- I, funded by MCIN/AEI/10.13039/501100011033), which includes FEDER funds. AG-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). PM 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. ToxOmics—Centre for Toxicogenomics and Human Health, Genetics, Oncology and Human Toxicology, Nova Medical School, Lisbon, is also partially supported by FCT (UID/BIM/00009/2016 and UIDB/00009/2020). SL 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 2017SGR191). SL is sponsored by the “Researchers Consolidation Program” from the SNS-Dpt. Salut Generalitat de Catalunya (Exp. CES09/020). This article is related to the Ph.D. Doctoral Thesis of AG-J.Frontiers MediaRepositório Científico do Instituto Nacional de SaúdeGuzmán-Jiménez, AndreaGonzález-Muñoz, SaraCerván-Martín, MiriamRivera-Egea, RocíoGarrido, NicolásLuján, SaturninoSantos-Ribeiro, SamuelCastilla, José A.Gonzalvo, M. CarmenClavero, AnaVicente, F. JavierMaldonado, VicenteVillegas-Salmerón, JavierBurgos, MiguelJiménez, RafaelPinto, Maria GraçaPereira, IsabelNunes, JoaquimSánchez-Curbelo, JosvanyLópez-Rodrigo, OlgaPereira-Caetano, IrisMarques, Patricia IsabelCarvalho, FilipaBarros, AlbertoBassas, LluísSeixas, SusanaGonçalves, JoãoLopes, Alexandra M.Larriba, SaraPalomino-Morales, Rogelio J.Carmona, F. DavidBossini-Castillo, Lara2023-02-02T11:34:04Z2022-12-152022-12-15T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.18/8495engFront Cell Dev Biol . 2022 Dec 15;10:1089782. doi: 10.3389/fcell.2022.1089782. eCollection 2022.2296-634X10.3389/fcell.2022.1089782info: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:RCAAP2023-07-20T15:42:36Zoai:repositorio.insa.pt:10400.18/8495Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T18:43:08.230864Repositório 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 |
Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia |
| title |
Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia |
| spellingShingle |
Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia Guzmán-Jiménez, Andrea Oligozoospermia Spermatogenesis TEX15 Genética Humana Doenças Genéticas |
| title_short |
Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia |
| title_full |
Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia |
| title_fullStr |
Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia |
| title_full_unstemmed |
Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia |
| title_sort |
Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia |
| author |
Guzmán-Jiménez, Andrea |
| author_facet |
Guzmán-Jiménez, Andrea González-Muñoz, Sara Cerván-Martín, Miriam Rivera-Egea, Rocío Garrido, Nicolás Luján, Saturnino Santos-Ribeiro, Samuel Castilla, José A. Gonzalvo, M. Carmen Clavero, Ana Vicente, F. Javier Maldonado, Vicente Villegas-Salmerón, Javier Burgos, Miguel Jiménez, Rafael Pinto, Maria Graça Pereira, Isabel Nunes, Joaquim Sánchez-Curbelo, Josvany López-Rodrigo, Olga Pereira-Caetano, Iris Marques, Patricia Isabel Carvalho, Filipa Barros, Alberto Bassas, Lluís Seixas, Susana Gonçalves, João Lopes, Alexandra M. Larriba, Sara Palomino-Morales, Rogelio J. Carmona, F. David Bossini-Castillo, Lara |
| author_role |
author |
| author2 |
González-Muñoz, Sara Cerván-Martín, Miriam Rivera-Egea, Rocío Garrido, Nicolás Luján, Saturnino Santos-Ribeiro, Samuel Castilla, José A. Gonzalvo, M. Carmen Clavero, Ana Vicente, F. Javier Maldonado, Vicente Villegas-Salmerón, Javier Burgos, Miguel Jiménez, Rafael Pinto, Maria Graça Pereira, Isabel Nunes, Joaquim Sánchez-Curbelo, Josvany López-Rodrigo, Olga Pereira-Caetano, Iris Marques, Patricia Isabel Carvalho, Filipa Barros, Alberto Bassas, Lluís Seixas, Susana Gonçalves, João Lopes, Alexandra M. Larriba, Sara Palomino-Morales, Rogelio J. Carmona, F. David Bossini-Castillo, Lara |
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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 |
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Repositório Científico do Instituto Nacional de Saúde |
| dc.contributor.author.fl_str_mv |
Guzmán-Jiménez, Andrea González-Muñoz, Sara Cerván-Martín, Miriam Rivera-Egea, Rocío Garrido, Nicolás Luján, Saturnino Santos-Ribeiro, Samuel Castilla, José A. Gonzalvo, M. Carmen Clavero, Ana Vicente, F. Javier Maldonado, Vicente Villegas-Salmerón, Javier Burgos, Miguel Jiménez, Rafael Pinto, Maria Graça Pereira, Isabel Nunes, Joaquim Sánchez-Curbelo, Josvany López-Rodrigo, Olga Pereira-Caetano, Iris Marques, Patricia Isabel Carvalho, Filipa Barros, Alberto Bassas, Lluís Seixas, Susana Gonçalves, João Lopes, Alexandra M. Larriba, Sara Palomino-Morales, Rogelio J. Carmona, F. David Bossini-Castillo, Lara |
| dc.subject.por.fl_str_mv |
Oligozoospermia Spermatogenesis TEX15 Genética Humana Doenças Genéticas |
| topic |
Oligozoospermia Spermatogenesis TEX15 Genética Humana Doenças Genéticas |
| description |
Lisbon clinical group co-authors and IVIRMA group co-authors Ana Aguiar, (Unidade de Medicina da Reproducao, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal); Carlos Calhaz-Jorge, (Unidade de Medicina da Reproducao, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal); Joaquim Nunes, (Unidade de Medicina da Reproducao, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal); Sandra Sousa (Unidade de Medicina da Reproducao, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte, Lisboa, Portugal), and Sónia Correia (Centro de Medicina Reprodutiva, Maternidade Alfredo da Costa, Centro Hospitalar Lisboa Central, Lisboa, Portugal); Maria Graça Pinto(Centro de Medicina Reprodutiva, Maternidade Alfredo da Costa, Centro Hospitalar Lisboa Central, Lisboa, Portugal). Alberto Pacheco, (IVIRMA Madrid, Spain); Cristina González, (IVIRMA Sevilla, Spain); Susana Gómez, (IVIRMA Lisboa, Portugal); David Amorós, (IVIRMA Barcelona, Spain); Jesús Aguilar, (IVIRMA Vigo, Spain); Fernando Quintana, (IVIRMA Bilbao, Spain). |
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2022 |
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2022-12-15 2022-12-15T00:00:00Z 2023-02-02T11:34:04Z |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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http://hdl.handle.net/10400.18/8495 |
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eng |
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eng |
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Front Cell Dev Biol . 2022 Dec 15;10:1089782. doi: 10.3389/fcell.2022.1089782. eCollection 2022. 2296-634X 10.3389/fcell.2022.1089782 |
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Frontiers Media |
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