Portal de investigación
Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia.
Fecha de publicación:
Fecha Ahead of Print:
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- Guzman-Jimenez, Andrea
- Gonzalez-Munoz, Sara
- Cervan-Martin, Miriam
- Rivera-Egea, Rocio
- Santos-Ribeiro, Samuel
- Castilla, Jose A.
- Gonzalvo, M. Carmen
- Clavero, Ana
- Vicente, F. Javier
- Maldonado, Vicente
- Villegas-Salmeron, Javier
- Burgos, Miguel
- Jimenez, Rafael
- Pinto MG
- Pereira, Isabel
- Nunes, Joaquim
- Sanchez-Curbelo, Josvany
- Lopez-Rodrigo, Olga
- Pereira-Caetano, Iris
- Marques, Patricia Isabel
- Carvalho, Filipa
- Barros, Alberto
- Bassas, Lluis
- Seixas, Susana
- Goncalves, Joao
- Lopes, Alexandra M.
- Larriba, Sara
- Palomino-Morales, Rogelio J.
- Carmona, F. David
- Bossini-Castillo, Lara
- IVIRMA Group
- Lisbon Clinical Group
Grupos
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.
Copyright © 2022 Guzmán-Jiménez, González-Muñoz, Cerván-Martín, Rivera-Egea, Garrido, Luján, Santos-Ribeiro, Castilla, Gonzalvo, Clavero, Vicente, Maldonado, Villegas-Salmerón, Burgos, Jiménez, Pinto, Pereira, Nunes, Sánchez-Curbelo, López-Rodrigo, Pereira-Caetano, Marques, Carvalho, Barros, Bassas, Seixas, Gonçalves, Lopes, Larriba, Palomino-Morales, Carmona, Bossini-Castillo, IVIRMA Group and Lisbon Clinical Group.
Datos de la publicación
- ISSN/ISSNe:
- 2296-634X, 2296-634X
- Tipo:
- Article
- Páginas:
- 1089782-1089782
- PubMed:
- 36589743
- Factor de Impacto:
- 1,440 SCImago ℠
- Cuartil:
- Q1 SCImago ℠
Frontiers in Cell and Developmental Biology Frontiers Media S.A.
Citas Recibidas en Web of Science: 1
Documentos
- No hay documentos
Filiaciones
Keywords
- TEX15; association study; oligozoospermia; polymorphisms; spermatogenesis
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Cita
Guzman A,Gonzalez S,Cervan M,Rivera R,GARRIDO N,LUJAN S,Santos S,Castilla JA,Gonzalvo MC,Clavero A,Vicente FJ,Maldonado V,Villegas J,Burgos M,Jimenez R,Pinto MG,Pereira I,Nunes J,Sanchez J,Lopez O,Pereira I,Marques PI,Carvalho F,Barros A,Bassas L,Seixas S,Goncalves J,Lopes AM,Larriba S,Palomino RJ,Carmona FD,Bossini L,IVIRMA G,Lisbon G. Contribution of TEX15 genetic variants to the risk of developing severe non-obstructive oligozoospermia. Front Cell Dev Biol. 2022. 10. p. 1089782-1089782. IF:5,500. (1).