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

2022-07-04Journal article Open access
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dc.contributor.authorCerván-Martín, Miriam
dc.contributor.authorBossini-Castillo, Lara
dc.contributor.authorGuzmán-Jimenez, Andrea
dc.contributor.authorRivera-Egea, Rocío
dc.contributor.authorGarrido, Nicolás
dc.contributor.authorLuján, Saturnino
dc.contributor.authorRomeu, Gema
dc.contributor.authorSantos-Ribeiro, Samuel
dc.contributor.authorCastilla, José A.
dc.contributor.authorGonzalvo, M. Carmen
dc.contributor.authorClavero, Ana
dc.contributor.authorVicente, F. Javier
dc.contributor.authorMaldonado, Vicente
dc.contributor.authorGonzález-Muñoz, Sara
dc.contributor.authorRodríguez-Martín, Inmaculada
dc.contributor.authorBurgos, Miguel
dc.contributor.authorJiménez, Rafael
dc.contributor.authorPinto, Maria Graça
dc.contributor.authorPereira, Isabel
dc.contributor.authorNunes, Joaquim
dc.contributor.authorSánchez-Curbelo, Josvany
dc.contributor.authorLópez-Rodrigo, Olga
dc.contributor.authorPereira-Caetano, Iris
dc.contributor.authorMarques, Patricia Isabel
dc.contributor.authorCarvalho, Filipa
dc.contributor.authorBarros, Alberto
dc.contributor.authorBassas, Lluís
dc.contributor.authorSeixas, Susana
dc.contributor.authorGonçalves, João
dc.contributor.authorLarriba, Sara
dc.contributor.authorLopes, Alexandra M.
dc.contributor.authorCarmona, F. David
dc.contributor.authorPalomino-Morales, Rogelio J.
dc.date.accessioned2023-03-20T15:17:02Z
dc.date.available2023-03-20T15:17:02Z
dc.date.issued2022-07-04
dc.description.abstractWe 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.pt_PT
dc.description.sponsorshipThis 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 Competi tiveness 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, avail able 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”).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Pers Med. 2022 Jun 4;12(6):932. doi: 10.3390/jpm12060932.pt_PT
dc.identifier.doi10.3390/jpm12060932pt_PT
dc.identifier.issn2075-4426
dc.identifier.urihttp://hdl.handle.net/10400.18/8577
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherMDPIpt_PT
dc.relation2013 - Strategic Project
dc.relationUnderstanding the basis of semen hyperviscosity and asthenozoospermia phenotypes - a systems biology approach
dc.relationCentre for Toxicogenomics and Human Health
dc.relationCentre for Toxicogenomics and Human Health
dc.relationCentre for Toxicogenomics and Human Health
dc.relation.publisherversionhttps://www.mdpi.com/2075-4426/12/6/932pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectPIN1pt_PT
dc.subjectSertoli Cell-Only Syndrome;pt_PT
dc.subjectMale Infertilitypt_PT
dc.subjectSevere Spermatogenic Failurept_PT
dc.subjectSingle-Nucleotide Polymorphismpt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleCommon Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndromept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitle2013 - Strategic Project
oaire.awardTitleUnderstanding the basis of semen hyperviscosity and asthenozoospermia phenotypes - a systems biology approach
oaire.awardTitleCentre for Toxicogenomics and Human Health
oaire.awardTitleCentre for Toxicogenomics and Human Health
oaire.awardTitleCentre for Toxicogenomics and Human Health
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6820 - DCRRNI ID/PEst-C%2FSAU%2FLA0003%2F2013/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/Investigador FCT/IF%2F01262%2F2014%2FCP1245%2FCT0001/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT//SFRH%2FBPD%2F120777%2F2016/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UID%2FBIM%2F00009%2F2013/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB%2F00009%2F2020/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDP%2F00009%2F2020/PT
oaire.citation.issue6pt_PT
oaire.citation.startPage932pt_PT
oaire.citation.titleJournal of Personalized Medicinept_PT
oaire.citation.volume12pt_PT
oaire.fundingStream6820 - DCRRNI ID
oaire.fundingStreamInvestigador FCT
oaire.fundingStream6817 - DCRRNI ID
oaire.fundingStream6817 - DCRRNI ID
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project.funder.identifierhttp://doi.org/10.13039/501100001871
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project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.embargofctAcesso de acordo com política editorial da revista.pt_PT
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