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Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia

Guzmán-Jiménez, Andrea ; González-Muñoz, Sara ; Cerván-Martín, Miriam ; Rivera-Egea, Rocío ; Garrido, Nicolás ; Luján, Saturnino ; Santos-Ribeiro, Samuel ; Castilla, José A ; Gonzalvo, M Carmen ; Clavero, Ana ; Vicente, F Javier ; Maldonado, Vicente ; Villegas-Salmerón, Javier ; Burgos, Miguel ; Jiménez, Rafael ; Pinto, Maria Graça ; Pereira, Isabel ; Nunes, Joaquim ; Sánchez-Curbelo, Josvany ; López-Rodrigo, Olga ; Pereira-Caetano, Iris ; Marques, Patricia Isabel ; Carvalho, Filipa ; Barros, Alberto ; Bassas, Lluís ; Seixas, Susana ; Gonçalves, João ; Lopes, Alexandra M ; Larriba, Sara ; Palomino-Morales, Rogelio J ; Carmona, F David ; Bossini-Castillo, Lara

Frontiers in cell and developmental biology, 2022-12, Vol.10, p.1089782-1089782 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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Título:
Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia
Autor: Guzmán-Jiménez, Andrea ; González-Muñoz, Sara ; Cerván-Martín, Miriam ; Rivera-Egea, Rocío ; Garrido, Nicolás ; Luján, Saturnino ; Santos-Ribeiro, Samuel ; Castilla, José A ; Gonzalvo, M Carmen ; Clavero, Ana ; Vicente, F Javier ; Maldonado, Vicente ; Villegas-Salmerón, Javier ; Burgos, Miguel ; Jiménez, Rafael ; Pinto, Maria Graça ; Pereira, Isabel ; Nunes, Joaquim ; Sánchez-Curbelo, Josvany ; López-Rodrigo, Olga ; Pereira-Caetano, Iris ; Marques, Patricia Isabel ; Carvalho, Filipa ; Barros, Alberto ; Bassas, Lluís ; Seixas, Susana ; Gonçalves, João ; Lopes, Alexandra M ; Larriba, Sara ; Palomino-Morales, Rogelio J ; Carmona, F David ; Bossini-Castillo, Lara
Assuntos: association study ; Cell and Developmental Biology ; oligozoospermia ; polymorphisms ; spermatogenesis ; TEX15
É parte de: Frontiers in cell and developmental biology, 2022-12, Vol.10, p.1089782-1089782
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
These authors share last authorship
This article was submitted to Molecular and Cellular Reproduction, a section of the journal Frontiers in Cell and Developmental Biology
Reviewed by: Rong Hua, Anhui Medical University, China
ORCID: F. David Carmona, orcid.org/0000-0002-1427-7639
Edited by: Mingrong Lv, First Affiliated Hospital of Anhui Medical University, China
Chunyu Liu, Fudan University, China
IVIRMA Group, and Lisbon Clinical Group authors are listed at the end of the article
Aminata Toure, Institute for Advanced Biosciences, France
These authors share first authorship
Descrição: 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 , which encodes a key player in spermatogenesis, is involved in the susceptibility to idiopathic SPGF. 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 (rs1362912, rs323342, and rs323346) were selected for genotyping using TaqMan probes. Case-control association tests were then performed by logistic regression models. analyses were also carried out to shed light into the putative functional implications of the studied variants. A significant increase in -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, = 7.47E-03) or the NOA group (MAF = 0.0472, OR = 1.83, = 1.23E-02). The genotype distribution of the SO population was also different from those of both control ( = 1.14E-02) and NOA groups ( = 4.33-02). The analysis of functional annotations of the human genome suggested that the effect of the SO-associated variants is likely exerted by alteration of the binding affinity of crucial transcription factors for spermatogenesis. Our results suggest that common variation in is involved in the genetic predisposition to SO, thus supporting the notion of idiopathic SPGF as a complex trait.
Editor: Switzerland: Frontiers Media S.A
Idioma: Inglês

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Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia

Switzerland: Frontiers Media S.A

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