@misc{10481/79760,
year = {2022},
month = {12},
url = {https://hdl.handle.net/10481/79760},
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 singlenucleotide
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.},
organization = {Spanish Ministry of Science and Innovation through the Spanish National Plan for Scientific and Technical Research and Innovation},
organization = {Andalusian Government	PID 2020-120157RB-I 00},
organization = {Ministry of Science and Innovation, Spain (MICINN)
Spanish Government	PY20_00212	
B-CTS-584-UGR20	
MCIN/AEI	IJC 2018-03802 6-I},
organization = {European Commission	FPU20/02926},
organization = {Portuguese Foundation for Science and Technology},
organization = {European Social Fund (ESF)},
organization = {National Funds},
organization = {Portuguese Foundation for Science and Technology
European Commission	PEstC/SAU/LA0003/2013	
POCI-01-0145-FEDER-007274	
Portuguese State Budget of the Ministry for Science, Technology and High Education	SFRH/BPD/120777/201 6	
UID/BIM/00 009/2016	
UIDB/00009/20 20},
organization = {European Social Fund (ESF)},
organization = {ToxOmics-Centre for Toxicogenomics and Human Health, Genetics, Oncology and Human Toxicology, Nova Medical School, Lisbon},
organization = {Instituto de Salud Carlos III
European Commission		
FEDER funds/European Regional Development Fund (ERDF)	DTS18/001 01},
organization = {SNS-Dpt},
organization = {Generalitat de Catalunya},
organization = {SNS-Dpt. Salut Generalitat de Catalunya	2017SGR191	
Exp. CES09/020},
publisher = {Frontiers},
keywords = {Oligozoospermia},
keywords = {Spermatogenesis},
keywords = {TEX15},
keywords = {Polymorphisms},
keywords = {Association study},
title = {Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia},
doi = {10.3389/fcell.2022.1089782},
author = {Guzmán Jiménez, Andrea and González Muñoz, Sara and Cerván Martín, Miriam and Castilla Alcalá, José Antonio and Gonzalvo, M. Carmen and Clavero, Ana and Vicente Prados, Francisco Javier and Villegas Salmerón, Javier and Burgos Poyatos, Miguel and Jiménez Medina, Rafael and Palomino Morales, Rogelio Jesús and Carmona López, Francisco David and Bossini Castillo, Lara María and IVIRMA Group and Lisbon Clinical Group},
}