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Evaluation of Male Fertility-Associated Loci in a European Population of Patients with Severe Spermatogenic Impairment

2020-12-29Journal article Open access
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dc.contributor.authorCerván-Martín, Miriam
dc.contributor.authorBossini-Castillo, Lara
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.authorGuzmán-Jiménez, Andrea
dc.contributor.authorCosta, Cláudia
dc.contributor.authorLlinares-Burguet, Inés
dc.contributor.authorKhantham, Chiranan
dc.contributor.authorBurgos, Miguel
dc.contributor.authorBarrionuevo, Francisco J.
dc.contributor.authorJiménez, Rafael
dc.contributor.authorSánchez-Curbelo, Josvany
dc.contributor.authorLópez-Rodrigo, Olga
dc.contributor.authorPeraza, M. Fernanda
dc.contributor.authorPereira-Caetano, Iris
dc.contributor.authorMarques, Patricia I.
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.authorPalomino-Morales, Rogelio J.
dc.contributor.authorCarmona, F. David
dc.date.accessioned2021-04-07T17:56:47Z
dc.date.available2021-04-07T17:56:47Z
dc.date.issued2020-12-29
dc.description.abstractInfertility 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.pt_PT
dc.description.sponsorshipThis 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).pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Pers Med. 2020 Dec 29;11(1):22. doi: 10.3390/jpm11010022.pt_PT
dc.identifier.doi10.3390/jpm11010022pt_PT
dc.identifier.issn2075-4426
dc.identifier.urihttp://hdl.handle.net/10400.18/7664
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherMDPIpt_PT
dc.relationIF/01262/2014pt_PT
dc.relationCentre for Toxicogenomics and Human Health
dc.relationUnderstanding the basis of semen hyperviscosity and asthenozoospermia phenotypes - a systems biology approach
dc.relation.publisherversionhttps://www.mdpi.com/2075-4426/11/1/22pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectSNPspt_PT
dc.subjectGenetic Association Analysispt_PT
dc.subjectImpaired Spermatogenesispt_PT
dc.subjectInfertility;pt_PT
dc.subjectNon-obstructive Azoospermiapt_PT
dc.subjectSevere Oligospermiapt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleEvaluation of Male Fertility-Associated Loci in a European Population of Patients with Severe Spermatogenic Impairmentpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.awardTitleCentre for Toxicogenomics and Human Health
oaire.awardTitleUnderstanding the basis of semen hyperviscosity and asthenozoospermia phenotypes - a systems biology approach
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB%2F00009%2F2020/PT
oaire.awardURIinfo:eu-repo/grantAgreement/FCT//SFRH%2FBPD%2F120777%2F2016/PT
oaire.citation.issue1pt_PT
oaire.citation.startPage22pt_PT
oaire.citation.titleJournal of Personalized Medicinept_PT
oaire.citation.volume11pt_PT
oaire.fundingStream6817 - DCRRNI ID
project.funder.identifierhttp://doi.org/10.13039/501100001871
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
rcaap.embargofctAcesso de acordo com página web do editor da revista.pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isProjectOfPublicationa438b9d1-8a6a-4c90-a13b-7ccf34071451
relation.isProjectOfPublication25a50db0-766f-46ec-a564-c35970c04f48
relation.isProjectOfPublication.latestForDiscoverya438b9d1-8a6a-4c90-a13b-7ccf34071451

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