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Trans-ethnic GWAS meta-analysis of idiopathic spermatogenic failure highlights the immune-mediated nature of Sertoli cell-only syndrome

2025-04-05Artigo científico Acesso aberto
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datacite.subject.fosCiências Médicas
datacite.subject.sdg03:Saúde de Qualidade
dc.contributor.authorGonzález-Muñoz, Sara
dc.contributor.authorLong, Yichen
dc.contributor.authorGuzmán-Jiménez, Andrea
dc.contributor.authorCerván-Martín, Miriam
dc.contributor.authorHigueras-Serrano, Inmaculada
dc.contributor.authorCastilla, José A.
dc.contributor.authorClavero, Ana
dc.contributor.authorGarrido, Nicolás
dc.contributor.authorLuján, Saturnino
dc.contributor.authorYang, Xiaoyu
dc.contributor.authorGuo, Xuejiang
dc.contributor.authorLiu, Jiayin
dc.contributor.authorBassas, Lluís
dc.contributor.authorSeixas, Susana
dc.contributor.authorGonçalves, João
dc.contributor.authorLopes, Alexandra M.
dc.contributor.authorLarriba, Sara
dc.contributor.authorBossini-Castillo, Lara
dc.contributor.authorPalomino-Morales, Rogelio J.
dc.contributor.authorWang, Cheng
dc.contributor.authorHu, Zhibin
dc.contributor.authorCarmona, F. David
dc.date.accessioned2026-01-27T13:21:28Z
dc.date.available2026-01-27T13:21:28Z
dc.date.issued2025-04-05
dc.description.abstractNon-obstructive azoospermia, a severe form of male infertility caused by spermatogenic failure (SPGF), has a largely unknown genetic basis across ancestries. To our knowledge, this is the first trans-ethnic meta-analysis of genome-wide association studies on SPGF, involving 2255 men with idiopathic SPGF and 3608 controls from European and Asian populations. Using logistic regression and inverse variance methods, we identify two significant genetic associations with Sertoli cell-only (SCO) syndrome, the most extreme SPGF phenotype. The G allele of rs34915133, in the major histocompatibility complex class II region, significantly increases SCO risk (P = 5.25E-10, OR = 1.57), supporting a potential immune-related cause. Additionally, the rs10842262 variant in the SOX5 gene region is also a genetic marker of SCO (P = 5.29E-09, OR = 0.72), highlighting the key role of this gene in the male reproductive function. Our findings reveal shared genetic factors in male infertility across ancestries and provide insights into the molecular mechanisms underlying SCO.eng
dc.description.sponsorshipThis work was supported by the Spanish Ministry of Economy and Competitiveness through the Spanish National Plan for Scientific and Technical Research and Innovation (grant: PID2023-152215OB-I00 funded by MICIU/AEI/10.13039/501100011033andERDF,EU; andgrant:PID2020-120157RB-I00 funded by MICIU/AEI/10.13039/501100011033) and the National Key Research and Development Program of China (ref.2021YFC2700201 and 2021YFC2700601).S.G.-M.was funded by grant ref. FPU23/02674. S. La received support from “Instituto de Salud Carlos III”(grant: DTS18/00101], co-funded by FEDER funds/European RegionalDevelopmentFund(ERDF)- away tobuildEurope-),andfrom“Generalitatde Catalunya” (grant 2021SGR052). S. La is sponsored by the “Researchers Consolidation Program” from the SNS-Dpt. Salut Generalitat de Catalunya (Exp. CES09/020). The authors thank the support of the Unit of Excellence ‘UNETE’ from the University of Granada (reference UCE-PP2017-05). This article is related to the PhD Doctoral Thesis of Sara González-Muñoz.
dc.identifier.citationCommun Biol. 2025 Apr 5;8(1):571. doi: 10.1038/s42003-025-08001-2
dc.identifier.doi10.1038/s42003-025-08001-2
dc.identifier.eissn2399-3642
dc.identifier.pmid40188177
dc.identifier.urihttp://hdl.handle.net/10400.18/10767
dc.language.isoeng
dc.peerreviewedyes
dc.publisherNature Research
dc.relation.hasversionhttps://www.nature.com/articles/s42003-025-08001-2
dc.relation.ispartofCommunications Biology
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectSPGF
dc.subjectTrans-Ethnic Meta-GWASs
dc.subjectAzoospermia
dc.subjectMale Infertility
dc.subjectDoenças Genéticas
dc.titleTrans-ethnic GWAS meta-analysis of idiopathic spermatogenic failure highlights the immune-mediated nature of Sertoli cell-only syndromeeng
dc.typejournal article
dcterms.referenceshttps://www.nature.com/articles/s42003-025-08001-2#Sec15
dspace.entity.typePublication
oaire.citation.issue1
oaire.citation.startPage571
oaire.citation.titleCommunications Biology
oaire.citation.volume8
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85

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