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Immune and Spermatogenesis-Related Loci are Involved in the Development of Extreme Patterns of Male Infertility

2022Journal article Open access
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dc.contributor.authorCerván-Martín, M
dc.contributor.authorTüttelmann, F
dc.contributor.authorLopes, AM
dc.contributor.authorBossini-Castillo, L
dc.contributor.authorRivera-Egea, R
dc.contributor.authorGarrido, N
dc.contributor.authorLujan, S
dc.contributor.authorRomeu, G
dc.contributor.authorSantos-Ribeiro, S
dc.contributor.authorCastilla, JA
dc.contributor.authorCarmen Gonzalvo, M
dc.contributor.authorClavero, A
dc.contributor.authorMaldonado, V
dc.contributor.authorVicente, FJ
dc.contributor.authorGonzález-Muñoz, S
dc.contributor.authorGuzmán-Jiménez, A
dc.contributor.authorBurgos, M
dc.contributor.authorJiménez, R
dc.contributor.authorPacheco, A
dc.contributor.authorGonzález, C
dc.contributor.authorGómez, S
dc.contributor.authorAmorós, D
dc.contributor.authorAguilar, J
dc.contributor.authorQuintana, F
dc.contributor.authorCalhaz-Jorge, C
dc.contributor.authorAguiar, A
dc.contributor.authorNunes, J
dc.contributor.authorSousa, S
dc.contributor.authorPereira, I
dc.contributor.authorPinto, MG
dc.contributor.authorCorreia, S
dc.contributor.authorSánchez-Curbelo, J
dc.contributor.authorLópez-Rodrigo, O
dc.contributor.authorMartín, J
dc.contributor.authorPereira-Caetano, I
dc.contributor.authorMarques, PI
dc.contributor.authorCarvalho, F
dc.contributor.authorBarros, A
dc.contributor.authorGromoll, J
dc.contributor.authorBassas, L
dc.contributor.authorSeixas, S
dc.contributor.authorGonçalves, J
dc.contributor.authorLarriba, S
dc.contributor.authorKliesch, S
dc.contributor.authorPalomino-Morales, RJ
dc.contributor.authorCarmona, FD
dc.date.accessioned2023-04-12T12:28:02Z
dc.date.available2023-04-12T12:28:02Z
dc.date.issued2022
dc.description.abstractWe conducted a genome-wide association study in a large population of infertile men due to unexplained spermatogenic failure (SPGF). More than seven million genetic variants were analysed in 1,274 SPGF cases and 1,951 unaffected controls from two independent European cohorts. Two genomic regions were associated with the most severe histological pattern of SPGF, defined by Sertoli cell-only (SCO) phenotype, namely the MHC class II gene HLA-DRB1 (rs1136759, P = 1.32E-08, OR = 1.80) and an upstream locus of VRK1 (rs115054029, P = 4.24E-08, OR = 3.14), which encodes a protein kinase involved in the regulation of spermatogenesis. The SCO-associated rs1136759 allele (G) determines a serine in the position 13 of the HLA-DRβ1 molecule located in the antigen-binding pocket. Overall, our data support the notion of unexplained SPGF as a complex trait influenced by common variation in the genome, with the SCO phenotype likely representing an immune-mediated condition.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationCommun Biol . 2022 Nov 10;5(1):1220pt_PT
dc.identifier.doi10.1038/s42003-022-04192-0pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/4476
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherNature Publishing Grouppt_PT
dc.subjectAllelespt_PT
dc.subjectGenome-Wide Association Study*pt_PT
dc.subjectHumanspt_PT
dc.subjectInfertility, Male* / geneticspt_PT
dc.subjectInfertility, Male* / geneticspt_PT
dc.subjectMalept_PT
dc.subjectProtein Serine-Threonine Kinasespt_PT
dc.subjectSertoli Cells / metabolismpt_PT
dc.subjectSpermatogenesis / geneticspt_PT
dc.subjectMAC GINpt_PT
dc.titleImmune and Spermatogenesis-Related Loci are Involved in the Development of Extreme Patterns of Male Infertilitypt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue1pt_PT
oaire.citation.startPage1120pt_PT
oaire.citation.titleCommunications Biologypt_PT
oaire.citation.volume5pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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