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Title: Evaluation of male fertility-associated loci in a european population of patients with severe spermatogenic impairment
Authors: Miriam Cerván-Martín
Lara Bossini-Castillo
Rocío Rivera-Egea
Nicolás Garrido
Saturnino Luján
Gema Romeu
Samuel Santos-Ribeiro
José A. Castilla
M. Carmen Gonzalvo
Ana Clavero
F. Javier Vicente
Andrea Guzmán-Jiménez
Cláudia Costa
Inés Llinares-Burguet
Chiranan Khantham
Miguel Burgos
Francisco J. Barrionuevo
Rafael Jiménez
Josvany Sánchez-Curbelo
Olga López-Rodrigo
M. Fernanda Peraza
Iris Pereira-Caetano
Patricia I. Marques
Filipa Carvalho
Alberto Barros
Lluís Bassas
Susana Seixas
João Gonçalves
Sara Larriba
Alexandra M. Lopes
Rogelio J. Palomino-Morales
F. David Carmona
Keywords: Medicine
Issue Date: 1-Jan-2021
Abstract: © 2020 by the authors. Licensee MDPI, Basel, Switzerland. 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.
ISSN: 20754426
Appears in Collections:CMUL: Journal Articles

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