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Title: Evaluation of Male Fertility-Associated Loci in a European Population of Patients with Severe Spermatogenic Impairment
Author: Cerván Martín, Miriam
Bossini Castillo, Lara
Rivera-egea, Rocío
Garrido, Nicolás
Luján, Saturnino
Romeu, Gema
Santos Ribeiro, Samuel
Castilla, José A.
Gonzalvo, M. Carmen
Clavero Gilabert, Ana
Vicente, F. Javier
Guzmán Jiménez, Andrea
Costa, Cláudia
Llinares Burguet, Inés
Khantham, Chiranan
Burgos, Miguel
Barrionuevo, Francisco J.
Jiménez, Rafael
Sánchez Curbelo, Josvany
López Rodrigo, Olga
Peraza, M. Fernanda
Pereira Caetano, Iris
Marques, Patricia I.
Carvalho, Filipa
Barros, Alberto
Bassas, Lluís
Seixas, Susana
Gonçalves, João
Larriba, Sara
Lopes, Alexandra M.
Palomino Morales, Rogelio J.
Carmona, F. David
Lisbon Clinical Group
Keywords: Esterilitat
Issue Date: 29-Dec-2020
Publisher: MDPI
Abstract: 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.
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It is part of: Journal of Personalized Medicine, 2020, vol. 11, num. 1, p. 22
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Appears in Collections:Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

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