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Evaluation of the potential association of SOHLH2 polymorphisms with non-obstructive azoospermia susceptibility in a large European population

2019-07-10Conference object Open access
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dc.contributor.authorSánchez, Maria I.S.
dc.contributor.authorMartín, Miriam C.
dc.contributor.authorEgea, Rocío R.
dc.contributor.authorPuchalt, Nicolás G.
dc.contributor.authorMarco, Saturnino L.
dc.contributor.authorMagraner, Gema R.
dc.contributor.authorRibeiro, Samuel
dc.contributor.authorCastilla Alcalá, José A.
dc.contributor.authorGonzalvo López, Maria C.
dc.contributor.authorGilabert, Ana C.
dc.contributor.authorVicente Prados, F. Javier
dc.contributor.authorEzequiel, Vicente M.
dc.contributor.authorPoyatos, Miguel B.
dc.contributor.authorRodrigo, Olga L.
dc.contributor.authorPeraza Godoy, María F.
dc.contributor.authorCaetano, Iris
dc.contributor.authorMarques, Patricia
dc.contributor.authorArnau, Lluis B.
dc.contributor.authorSeixas, Susana
dc.contributor.authorGonçalves, João
dc.contributor.authorBartolomé, Sara L.
dc.contributor.authorLopes, Alexandra
dc.contributor.authorCarmona López, F. David
dc.contributor.authorPalomino Morales, Rogelio J.
dc.date.accessioned2020-05-23T14:16:16Z
dc.date.available2020-05-23T14:16:16Z
dc.date.issued2019-07-10
dc.description.abstractNon-obstructive azoospermia (NOA) or spermatogenic failure is a complex disease with an important genetic component that causes infertility in men. Known genetic factors associated with NOA include AZF microdeletions of the Y chromosome or karyotype abnormalities; however, most causes of NOA are idiopathic. During the last decade, a large list of associations between single-nucleotide polymorphisms (SNP) and NOA have been reported. However, most of the genetic studies have been performed only in Asian populations. We aimed to evaluate whether the previously described association in Han Chinese between NOA and two SNPs of the SOHLH2 gene (involved in the spermatogenesis process) may also confer risk for NOA in a population of European ancestry. We genotyped a total of 551 NOA patients (218 from Portugal and 333 from Spain) and 1,050 fertile controls (226 from Portugal and 824 from Spain) for the genetic variants rs1328626 and rs6563386 using TaqMan assays. To test for association, we compared the allele and genotype frequencies between cases and controls using an additive model. A haplotype analysis and a meta-analysis using the inverse variance method with our data and those of the original Asian study were also performed. No statistically significant differences were observed in any of the analyses described above. Therefore, considering the high statistical power of our study, it is not likely that the two analysed SOHLH2 genetic variants are related with an increase susceptibility to NOA in the European population.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/6775
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/pt_PT
dc.subjectNon-obstructive Azoospermiapt_PT
dc.subjectSOHLH2pt_PT
dc.subjectAzoospermiapt_PT
dc.subjectInfertilitypt_PT
dc.subjectDoenças Genéticaspt_PT
dc.subjectAzoospermiapt_PT
dc.titleEvaluation of the potential association of SOHLH2 polymorphisms with non-obstructive azoospermia susceptibility in a large European populationpt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceMadrid, Espanhapt_PT
oaire.citation.titleXIII Congresso Anual de Biotecnologia, 10-12 Julho 2019pt_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.rightsopenAccesspt_PT
rcaap.typeconferenceObjectpt_PT
relation.isAuthorOfPublication6bbd19e6-ea9c-4502-b972-ec6997e9c481
relation.isAuthorOfPublication.latestForDiscovery6bbd19e6-ea9c-4502-b972-ec6997e9c481

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