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s42003-025-08001-2 (1).pdf (1.76 MB)

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2025-04-05

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cc-by-nc-nd (c) González Muñoz et al., 2025
Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/221599

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

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https://doi.org/10.1038/s42003-025-08001-2

Abstract

Non-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.

Subject

Malalties de l'aparell genital masculí, Espermatogènesi, Esterilitat masculina

Subject (English)

Male genital diseases, Spermatogenesis, Male sterility

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Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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GONZÁLEZ MUÑOZ, Sara, et al. Trans-ethnic GWAS meta-analysis of idiopathic spermatogenic failure highlights the immune-mediated nature of Sertoli cell-only syndrome. Communications Biology. 2025. Vol. 8. ISSN 2399-3642. [consulted: 10 of August of 2026]. Available at: https://hdl.handle.net/2445/221599

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