RT Journal Article
T1 Evaluation of Male Fertility-Associated Loci in a European Population of Patients with Severe Spermatogenic Impairment.
A1 Cerván-Martín, Miriam
A1 Bossini-Castillo, Lara
A1 Rivera-Egea, Rocío
A1 Garrido, Nicolás
A1 Luján, Saturnino
A1 Romeu, Gema
A1 Santos-Ribeiro, Samuel
A1 Ivirma Group, 
A1 Lisbon Clinical Group, 
A1 Castilla, José A
A1 Gonzalvo, M Carmen
A1 Clavero, Ana
A1 Vicente, F Javier
A1 Guzmán-Jiménez, Andrea
A1 Costa, Cláudia
A1 Llinares-Burguet, Inés
A1 Khantham, Chiranan
A1 Burgos, Miguel
A1 Barrionuevo, Francisco J
A1 Jiménez, Rafael
A1 Sánchez-Curbelo, Josvany
A1 López-Rodrigo, Olga
A1 Peraza, M Fernanda
A1 Pereira-Caetano, Iris
A1 Marques, Patricia I
A1 Carvalho, Filipa
A1 Barros, Alberto
A1 Bassas, Lluís
A1 Seixas, Susana
A1 Gonçalves, João
A1 Larriba, Sara
A1 Lopes, Alexandra M
A1 Palomino-Morales, Rogelio J
A1 Carmona, F David
K1 SNPs
K1 genetic association analysis
K1 impaired spermatogenesis
K1 infertility
K1 non-obstructive azoospermia
K1 severe oligospermia
AB Infertility is a growing concern in developed societies. Two extreme phenotypes of male infertility are non-obstructive azoospermia (NOA) and severe oligospermia (SO), which are characterized by severe spermatogenic failure (SpF). We designed a genetic association study comprising 725 Iberian infertile men as a consequence of SpF and 1058 unaffected controls to evaluate whether five single-nucleotide polymorphisms (SNPs), previously associated with reduced fertility in Hutterites, are also involved in the genetic susceptibility to idiopathic SpF and specific clinical entities. A significant difference in the allele frequencies of USP8-rs7174015 was observed under the recessive model between the NOA group and both the control group (p = 0.0226, OR = 1.33) and the SO group (p = 0.0048, OR = 1.78). Other genetic associations for EPSTI1-rs12870438 and PSAT1-rs7867029 with SO and between TUSC1-rs10966811 and testicular sperm extraction (TESE) success in the context of NOA were observed. In silico analysis of functional annotations demonstrated cis-eQTL effects of such SNPs likely due to the modification of binding motif sites for relevant transcription factors of the spermatogenic process. The findings reported here shed light on the molecular mechanisms leading to severe phenotypes of idiopathic male infertility, and may help to better understand the contribution of the common genetic variation to the development of these conditions.
SN 2075-4426
YR 2020
FD 2020-12-29
LK https://hdl.handle.net/10668/26449
UL https://hdl.handle.net/10668/26449
LA en
DS RISalud
RD Apr 5, 2025