Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome

Detalhes bibliográficos
Autor(a) principal: Cerván-Martín, Miriam
Data de Publicação: 2022
Outros Autores: Bossini-Castillo, Lara, Guzmán-Jimenez, Andrea, Rivera-Egea, Rocío, Garrido, Nicolás, Luján, Saturnino, Romeu, Gema, Santos-Ribeiro, Samuel, Castilla, José A., Gonzalvo, M. Carmen, Clavero, Ana, Vicente, F. Javier, Maldonado, Vicente, González-Muñoz, Sara, Rodríguez-Martín, Inmaculada, 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, Larriba, Sara, Lopes, Alexandra M., Carmona, F. David, Palomino-Morales, Rogelio J.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10362/143543
Resumo: Funding Information: Funding: This work was supported by the Plan Andaluz de Investigación, Desarrollo e Innovación (PAIDI 2020) (ref. PY20_00212, P20_00583), and the Spanish Ministry of Economy and Competitiveness through the Spanish National Plan for Scientific and Technical Research and Innovation (ref. SAF2016–78722-R, PID2020–120157RB-I00) and the Proyectos I + D + i del Programa Operativo FEDER 2020 (ref. B-CTS-584-UGR20, B-CTS-260-UGR20). FDC was supported by the “Ramón y Cajal” program (ref. RYC-2014–16458), and LBC was supported by the Spanish Ministry of Economy and Competitiveness through the “Juan de la Cierva Incorporación” program (Grant ref. IJC2018– 038026-I, funded by MCIN/AEI/10.13039/501100011033), all of them including FEDER funds. AGJ was funded by MCIN/AEI/10.13039/501100011033 and FSE “El FSE invierte en tu futuro”(grant ref. FPU20/02926). SGM was funded by a previously mentioned project (ref. PY20_00212). 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). AML is funded by the Portuguese Government through FCT (IF/01262/2014). 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. ToxOmics—Centre for Toxicogenomics and Human Health, Genetics, Oncology and Human Toxicology, Nova Medical School, Lisbon, is also partially supported by FCT (Projects: UID/BIM/00009/2013 and UIDB/UIDP/00009/2020). SLarriba 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). SLarriba 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 Miriam Cerván-Martín (grant ref. BES-2017–081222 funded by MCIN/AEI/10.13039/501100011033 and FSE “El FSE invierte en tu futuro”). Publisher Copyright: © 2022 by the authors. Licensee MDPI, Basel, Switzerland.
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spelling Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only SyndromeMale infertilityPIN1Sertoli cell-only syndromeSevere spermatogenic failureSingle-nucleotide polymorphismMedicine (miscellaneous)Funding Information: Funding: This work was supported by the Plan Andaluz de Investigación, Desarrollo e Innovación (PAIDI 2020) (ref. PY20_00212, P20_00583), and the Spanish Ministry of Economy and Competitiveness through the Spanish National Plan for Scientific and Technical Research and Innovation (ref. SAF2016–78722-R, PID2020–120157RB-I00) and the Proyectos I + D + i del Programa Operativo FEDER 2020 (ref. B-CTS-584-UGR20, B-CTS-260-UGR20). FDC was supported by the “Ramón y Cajal” program (ref. RYC-2014–16458), and LBC was supported by the Spanish Ministry of Economy and Competitiveness through the “Juan de la Cierva Incorporación” program (Grant ref. IJC2018– 038026-I, funded by MCIN/AEI/10.13039/501100011033), all of them including FEDER funds. AGJ was funded by MCIN/AEI/10.13039/501100011033 and FSE “El FSE invierte en tu futuro”(grant ref. FPU20/02926). SGM was funded by a previously mentioned project (ref. PY20_00212). 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). AML is funded by the Portuguese Government through FCT (IF/01262/2014). 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. ToxOmics—Centre for Toxicogenomics and Human Health, Genetics, Oncology and Human Toxicology, Nova Medical School, Lisbon, is also partially supported by FCT (Projects: UID/BIM/00009/2013 and UIDB/UIDP/00009/2020). SLarriba 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). SLarriba 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 Miriam Cerván-Martín (grant ref. BES-2017–081222 funded by MCIN/AEI/10.13039/501100011033 and FSE “El FSE invierte en tu futuro”). Publisher Copyright: © 2022 by the authors. Licensee MDPI, Basel, Switzerland.We aimed to analyze the role of the common genetic variants located in the PIN1 locus, a relevant prolyl isomerase required to control the proliferation of spermatogonial stem cells and the integrity of the blood–testis barrier, in the genetic risk of developing male infertility due to a severe spermatogenic failure (SPGF). Genotyping was performed using TaqMan genotyping assays for three PIN1 taggers (rs2287839, rs2233678 and rs62105751). The study cohort included 715 males diagnosed with SPGF and classified as suffering from non-obstructive azoospermia (NOA, n = 505) or severe oligospermia (SO, n = 210), and 1058 controls from the Iberian Peninsula. The allelic frequency differences between cases and controls were analyzed by the means of logistic regression models. A subtype specific genetic association with the subset of NOA patients classified as suffering from the Sertoli cell-only (SCO) syndrome was observed with the minor alleles showing strong risk effects for this subset (ORaddrs2287839 = 1.85 (1.17–2.93), ORaddrs2233678 = 1.62 (1.11–2.36), ORaddrs62105751 = 1.43 (1.06–1.93)). The causal variants were predicted to affect the binding of key transcription factors and to produce an altered PIN1 gene expression and isoform balance. In conclusion, common non-coding single-nucleotide polymorphisms located in PIN1 increase the genetic risk to develop SCO.NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)Centre for Toxicogenomics and Human Health (ToxOmics)RUNCerván-Martín, MiriamBossini-Castillo, LaraGuzmán-Jimenez, AndreaRivera-Egea, RocíoGarrido, NicolásLuján, SaturninoRomeu, GemaSantos-Ribeiro, SamuelCastilla, José A.Gonzalvo, M. CarmenClavero, AnaVicente, F. JavierMaldonado, VicenteGonzález-Muñoz, SaraRodríguez-Martín, InmaculadaBurgos, MiguelJiménez, RafaelPinto, Maria GraçaPereira, IsabelNunes, JoaquimSánchez-Curbelo, JosvanyLópez-Rodrigo, OlgaPereira-Caetano, IrisMarques, Patricia IsabelCarvalho, FilipaBarros, AlbertoBassas, LluísSeixas, SusanaGonçalves, JoãoLarriba, SaraLopes, Alexandra M.Carmona, F. DavidPalomino-Morales, Rogelio J.2022-09-06T22:38:04Z2022-062022-06-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10362/143543eng2075-4426PURE: 46124885https://doi.org/10.3390/jpm12060932info: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:RCAAP2024-05-22T18:04:54Zoai:run.unl.pt:10362/143543Portal AgregadorONGhttps://www.rcaap.pt/oai/openairemluisa.alvim@gmail.comopendoar:71602024-05-22T18:04:54Repositório 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 Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome
title Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome
spellingShingle Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome
Cerván-Martín, Miriam
Male infertility
PIN1
Sertoli cell-only syndrome
Severe spermatogenic failure
Single-nucleotide polymorphism
Medicine (miscellaneous)
title_short Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome
title_full Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome
title_fullStr Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome
title_full_unstemmed Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome
title_sort Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome
author Cerván-Martín, Miriam
author_facet Cerván-Martín, Miriam
Bossini-Castillo, Lara
Guzmán-Jimenez, Andrea
Rivera-Egea, Rocío
Garrido, Nicolás
Luján, Saturnino
Romeu, Gema
Santos-Ribeiro, Samuel
Castilla, José A.
Gonzalvo, M. Carmen
Clavero, Ana
Vicente, F. Javier
Maldonado, Vicente
González-Muñoz, Sara
Rodríguez-Martín, Inmaculada
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
Larriba, Sara
Lopes, Alexandra M.
Carmona, F. David
Palomino-Morales, Rogelio J.
author_role author
author2 Bossini-Castillo, Lara
Guzmán-Jimenez, Andrea
Rivera-Egea, Rocío
Garrido, Nicolás
Luján, Saturnino
Romeu, Gema
Santos-Ribeiro, Samuel
Castilla, José A.
Gonzalvo, M. Carmen
Clavero, Ana
Vicente, F. Javier
Maldonado, Vicente
González-Muñoz, Sara
Rodríguez-Martín, Inmaculada
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
Larriba, Sara
Lopes, Alexandra M.
Carmona, F. David
Palomino-Morales, Rogelio J.
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
dc.contributor.none.fl_str_mv NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
Centre for Toxicogenomics and Human Health (ToxOmics)
RUN
dc.contributor.author.fl_str_mv Cerván-Martín, Miriam
Bossini-Castillo, Lara
Guzmán-Jimenez, Andrea
Rivera-Egea, Rocío
Garrido, Nicolás
Luján, Saturnino
Romeu, Gema
Santos-Ribeiro, Samuel
Castilla, José A.
Gonzalvo, M. Carmen
Clavero, Ana
Vicente, F. Javier
Maldonado, Vicente
González-Muñoz, Sara
Rodríguez-Martín, Inmaculada
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
Larriba, Sara
Lopes, Alexandra M.
Carmona, F. David
Palomino-Morales, Rogelio J.
dc.subject.por.fl_str_mv Male infertility
PIN1
Sertoli cell-only syndrome
Severe spermatogenic failure
Single-nucleotide polymorphism
Medicine (miscellaneous)
topic Male infertility
PIN1
Sertoli cell-only syndrome
Severe spermatogenic failure
Single-nucleotide polymorphism
Medicine (miscellaneous)
description Funding Information: Funding: This work was supported by the Plan Andaluz de Investigación, Desarrollo e Innovación (PAIDI 2020) (ref. PY20_00212, P20_00583), and the Spanish Ministry of Economy and Competitiveness through the Spanish National Plan for Scientific and Technical Research and Innovation (ref. SAF2016–78722-R, PID2020–120157RB-I00) and the Proyectos I + D + i del Programa Operativo FEDER 2020 (ref. B-CTS-584-UGR20, B-CTS-260-UGR20). FDC was supported by the “Ramón y Cajal” program (ref. RYC-2014–16458), and LBC was supported by the Spanish Ministry of Economy and Competitiveness through the “Juan de la Cierva Incorporación” program (Grant ref. IJC2018– 038026-I, funded by MCIN/AEI/10.13039/501100011033), all of them including FEDER funds. AGJ was funded by MCIN/AEI/10.13039/501100011033 and FSE “El FSE invierte en tu futuro”(grant ref. FPU20/02926). SGM was funded by a previously mentioned project (ref. PY20_00212). 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). AML is funded by the Portuguese Government through FCT (IF/01262/2014). 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. ToxOmics—Centre for Toxicogenomics and Human Health, Genetics, Oncology and Human Toxicology, Nova Medical School, Lisbon, is also partially supported by FCT (Projects: UID/BIM/00009/2013 and UIDB/UIDP/00009/2020). SLarriba 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). SLarriba 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 Miriam Cerván-Martín (grant ref. BES-2017–081222 funded by MCIN/AEI/10.13039/501100011033 and FSE “El FSE invierte en tu futuro”). Publisher Copyright: © 2022 by the authors. Licensee MDPI, Basel, Switzerland.
publishDate 2022
dc.date.none.fl_str_mv 2022-09-06T22:38:04Z
2022-06
2022-06-01T00:00:00Z
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repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
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