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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 IVIRMA Group Lisbon Clinical Group |
Keywords: | Esterilitat Genètica Infertility Genetics |
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. |
Note: | Reproducció del document publicat a: https://doi.org/10.3390/jpm11010022 |
It is part of: | Journal of Personalized Medicine, 2020, vol. 11, num. 1, p. 22 |
URI: | http://hdl.handle.net/2445/173890 |
Related resource: | https://doi.org/10.3390/jpm11010022 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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jpm-11-00022-v3.pdf | 1.55 MB | Adobe PDF | View/Open |
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