ArticleCommunications biology2022
Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility.
Article in Communications biology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- Trans-ethnic GWAS meta-analysis of idiopathic spermatogenic failure highlights the immune-mediated nature of Sertoli cell-only syndrome.Communications biology · 2025Pooled it
- Epigenetic dynamics of human spermatogenesis and their dysregulation in non-obstructive azoospermia.Protein & cell · 2026Article
- Statistical methods to disentangle genetic effects influencing infertility and early fetal viability with a genome-wide application.PLoS genetics · 2025Article
- Genetic and epigenetic landscape of male infertility.Trends in genetics : TIG · 2025Review
- Genome-Wide Association Analyses in Family Triads and Dyads Following Assisted Reproductive Technology.Genetic epidemiology · 2025Article
- Polygenic scores for dizygotic twinning: insights into the genetic architecture of female fertility.Journal of assisted reproduction and genetics · 2025Article
- Partitioning genetic effects on birthweight at classical human leukocyte antigen loci into maternal and fetal components, using structural equation modelling.International journal of epidemiology · 2024Article
- A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure.Human reproduction open · 2024Article
- Rate of testicular histology failure in predicting successful testicular sperm extraction.Frontiers in endocrinology · 2024Article
Corrections and comments
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Authors and funding
46 authors at 16 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We 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.
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Registered trials
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