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| Home > Articles > Published articles > Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia |
| Home > Articles > Published articles > Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia |
(Instituto de Investigación Sanitaria de Granada) (Instituto de Investigación Sanitaria de Granada) (Instituto de Investigación Sanitaria La Fe (València)) (Instituto de Investigación Sanitaria La Fe (València)) (University of Lisbon. Department of Obstetrics and Gynecology) (CEIFER Biobanco-GAMETIA) (Complejo Hospitalario de Jaén) (Centro de Investigación Biomédica (CIBM). Universidad de Granada. Departamento de Genética e Instituto de Biotecnología) (Centro de Investigación Biomédica (CIBM). Universidad de Granada. Departamento de Genética e Instituto de Biotecnología) (Hospital de Santa Maria. Centro Hospitalar Universitário de Lisboa Norte. Departamento de Obstetrícia. Ginecologia e Medicina da Reprodução) (Institut d'Investigació Biomèdica Sant Pau) (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)) (Faculdade de Medicina da Universidade do Porto. Serviço de Genética. Departamento de Patologia) (Faculdade de Medicina da Universidade do Porto. Serviço de Genética. Departamento de Patologia) (Institut d'Investigació Biomèdica Sant Pau) (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)) (ToxOmics-Centro de Toxicogenómica e Saúde Humana. Nova Medical School) (CGPP-IBMC-Centro de Genética Preditiva e Preventiva. Instituto de Biologia Molecular e Celular. Universidade do Porto) (Institut d'Investigació Biomèdica de Bellvitge) (Universidad de Granada. Departamento de Bioquímica y Biología Molecular) (Instituto de Investigación Sanitaria de Granada) (Instituto de Investigación Sanitaria de Granada)
| Date: | 2022 |
| Abstract: | Background: Severe spermatogenic failure (SPGF) represents one of the most relevant causes of male infertility. This pathological condition can lead to extreme abnormalities in the seminal sperm count, such as severe oligozoospermia (SO) or non-obstructive azoospermia (NOA). Most cases of SPGF have an unknown aetiology, and it is known that this idiopathic form of male infertility represents a complex condition. In this study, we aimed to evaluate whether common genetic variation in TEX15, which encodes a key player in spermatogenesis, is involved in the susceptibility to idiopathic SPGF. Materials and Methods: We designed a genetic association study comprising a total of 727 SPGF cases (including 527 NOA and 200 SO) and 1,058 unaffected men from the Iberian Peninsula. Following a tagging strategy, three tag single-nucleotide polymorphisms (SNPs) of TEX15 (rs1362912, rs323342, and rs323346) were selected for genotyping using TaqMan probes. Case-control association tests were then performed by logistic regression models. In silico analyses were also carried out to shed light into the putative functional implications of the studied variants. Results: A significant increase in TEX15-rs1362912 minor allele frequency (MAF) was observed in the group of SO patients (MAF = 0. 0842) compared to either the control cohort (MAF = 0. 0468, OR = 1. 90, p = 7. 47E-03) or the NOA group (MAF = 0. 0472, OR = 1. 83, p = 1. 23E-02). The genotype distribution of the SO population was also different from those of both control (p = 1. 14E-02) and NOA groups (p = 4. 33-02). The analysis of functional annotations of the human genome suggested that the effect of the SO-associated TEX15 variants is likely exerted by alteration of the binding affinity of crucial transcription factors for spermatogenesis. Conclusion: Our results suggest that common variation in TEX15 is involved in the genetic predisposition to SO, thus supporting the notion of idiopathic SPGF as a complex trait. |
| Grants: | Ministerio de Ciencia e Innovación PID2020-120157RB-I00 Ministerio de Ciencia e Innovación IJC 2018-038026-I Agencia Estatal de Investigación FPU20/02926 Instituto de Salud Carlos III DTS18/00101 Agència de Gestió d'Ajuts Universitaris i de Recerca 2017/SGR-191 Agència de Gestió d'Ajuts Universitaris i de Recerca CES09/020 |
| Note: | Altres ajuts: Junta de Andalucía (PY20_00212, B-CTS-584-UGR20); European Regional Development Fund (FEDER); Fondo Social Europea "El FSE invierte en tu futuro"; Portuguese Foundation for Science and Technology (FCT); European Social Funds (COMPETE-FEDER); National Funds (projects PEstC/SAU/LA0003/2013, POCI-01-0145-FEDER-007274); Ministry for Science, Technology and High Education (Portugal) and from the European Social (FundFCT post-doctoral fellowship SFRH/BPD/120777/2016, FCT UID/BIM/00009/2016, UIDB/00009/2020). |
| Rights: | Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.  |
| Language: | Anglès |
| Document: | Article ; recerca ; Versió publicada |
| Subject: | Oligozoospermia ; Spermatogenesis ; TEX15 ; Polymorphisms ; Association study |
| Published in: | Frontiers in Cell and Developmental Biology, Vol. 10 (December 2022) , p. 1089782, ISSN 2296-634X |
