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Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment

2020-08Artigo científico Acesso restrito
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dc.contributor.authorCerván-Martín, Miriam
dc.contributor.authorSuazo-Sánchez, M. Irene
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.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.contributor.authorCalhaz-Jorge, Carlos
dc.contributor.authorAguiar, Ana
dc.contributor.authorNunes, Joaquim
dc.contributor.authorSousa, Sandra
dc.contributor.authorGraça Pinto, Maria
dc.contributor.authorCorreia, Sónia
dc.contributor.authorPacheco, Alberto
dc.contributor.authorGonzález, Cristina
dc.contributor.authorGómez, Susana
dc.contributor.authorAmorós, David
dc.contributor.authorAguilar, Jesús
dc.contributor.authorQuintana, Fernando
dc.date.accessioned2021-03-06T16:32:48Z
dc.date.available2021-03-06T16:32:48Z
dc.date.issued2020-08
dc.description.abstractObjective: To evaluate whether SOHLH2 intronic variation contributes to the genetic predisposition to male infertility traits, including severe oligospermia (SO) and different nonobstructive azoospermia (NOA) clinical phenotypes. Design: Genetic association study. Setting: Not applicable. Patient(s): Five hundred five cases (455 infertile patients diagnosed with NOA and 50 with SO) and 1,050 healthy controls from Spain and Portugal. Intervention(s): None. Main outcome measure(s): Genomic DNA extraction from peripheral blood mononuclear cells, genotyping of the SOHLH2 polymorphisms rs1328626 and rs6563386 using the TaqMan allelic discrimination technology, case-control association analyses using logistic regression models, and exploration of functional annotations in publicly available databases. Result(s): Evidence of association was observed for both rs6563386 with SO and rs1328626 with unsuccessful sperm retrieval after testicular sperm extraction (TESE-) in the context of NOA. A dominant effect of the minor alleles was suggested in both associations, either when the subset of patients with the manifestation were compared against the control group (rs6563386/SO: P=.021, odds ratio [OR] = 0.51; rs1328626/TESE-: P=.066, OR = 1.46) or against the group of patients without the manifestation (rs6563386/SO: P=.014, OR = 0.46; rs1328626/TESE-: P=.012, OR = 2.43). The haplotype tests suggested a combined effect of both polymorphisms. In silico analyses evidenced that this effect could be due to alteration of the isoform population. Conclusion(s): Our data suggest that intronic variation of SOHLH2 is associated with spermatogenic failure. The genetic effect is likely caused by different haplotypes of rs6563386 and rs1328626, which may predispose to SO or TESE- depending on the specific allelic combination.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationFertil Steril. 2020 Aug;114(2):398-406. doi: 10.1016/j.fertnstert.2020.02.115. Epub 2020 Jul 18.pt_PT
dc.identifier.doi10.1016/j.fertnstert.2020.02.115pt_PT
dc.identifier.issn0015-0282
dc.identifier.urihttp://hdl.handle.net/10400.18/7351
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevier/ American Society for Reproductive Medicinept_PT
dc.relation.publisherversionhttps://www.fertstert.org/article/S0015-0282(20)30247-8/fulltextpt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/pt_PT
dc.subjectSOHLH2pt_PT
dc.subjectAzoospermiapt_PT
dc.subjectOligozoospermiapt_PT
dc.subjectMale Infertilitypt_PT
dc.subjectSpainpt_PT
dc.subjectPortugal.pt_PT
dc.subjectDoenças Genéticaspt_PT
dc.titleIntronic variation of the SOHLH2 gene confers risk to male reproductive impairmentpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage406pt_PT
oaire.citation.issue2pt_PT
oaire.citation.startPage398pt_PT
oaire.citation.titleFertility and Sterilitypt_PT
oaire.citation.volume114pt_PT
person.familyNameGonçalves
person.givenNameJoão
person.identifier.ciencia-id5710-1FAE-5FAB
person.identifier.orcid0000-0001-9359-8774
person.identifier.ridL-2265-2014
person.identifier.scopus-author-id55934387500
rcaap.embargofctAcesso de acordo com política editorial da revista.pt_PT
rcaap.rightsembargoedAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication6bbd19e6-ea9c-4502-b972-ec6997e9c481
relation.isAuthorOfPublication.latestForDiscovery6bbd19e6-ea9c-4502-b972-ec6997e9c481

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