Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort
- Cerván‐Martín, Miriam
- Bossini‐Castillo, Lara
- Rivera‐Egea, Rocío
- Garrido, Nicolás
- Luján, Saturnino
- Romeu, Gema
- Santos‐Ribeiro, Samuel
- IVIRMA Group, Lisbon Clinical Group
- Castilla, José A.
- Gonzalvo, María del Carmen
- Clavero, Ana
- Vicente, Francisco Javier
- Guzmán‐Jiménez, Andrea
- Burgos, Miguel
- Barrionuevo, Francisco Javier
- Jiménez, Rafael
- Sánchez‐Curbelo, Josvany
- López‐Rodrigo, Olga
- Peraza, María Fernanda
- Pereira‐Caetano, Iris
- Marques, Patrícia Isabel
- Carvalho, Filipa
- Barros, Alberto
- Bassas, Luís
- Seixas, Susana
- Gonçalves, João
- Larriba, Sara
- Lopes, Alexandra Manuel
- Carmona, Francisco David
- Palomino‐Morales, Rogelio Jesús
DOIAbstract
IVIRMA Group, Lisbon Clinical Group: Alberto Pacheco, Cristina González, Susana Gómez, David Amorós, Jesus Aguilar, Fernando Quintana, Carlos Calhaz-Jorge, Ana Aguiar, Joaquim Nunes, Sandra Sousa, Maria Graça Pinto, Sónia CorreiaBackground: Severe spermatogenic failure (SpF) represents the most extreme manifestation of male infertility, as it decreases drastically the semen quality leading to either severe oligospermia (SO, <5 million spermatozoa/mL semen) or non-obstructive azoospermia (NOA, complete lack of spermatozoa in the ejaculate without obstructive causes). Objectives: The main objective of the present study is to analyze in the Iberian population the effect of 6 single-nucleotide polymorphisms (SNPs) previously associated with ...
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