Evaluation of Male Fertility-Associated Loci in a European Population of Patients with Severe Spermatogenic Impairment

• Type: Article in International Scientific Journal
• Date: 2021

Authors

Cervan Martin, M (Author) Other; Bossini Castillo, L (Author) Other; Rivera Egea, R (Author) Other; Garrido, N (Author) Other; Lujan, S (Author) Other; Romeu, G (Author) Other; Santos Ribeiro, S (Author) Other; Castilla, JA (Author) Other; Gonzalvo, MC (Author) Other; Clavero, A (Author) Other; Vicente, FJ (Author) Other; Guzman Jimenez, A (Author) Other; Costa, C (Author) Other; Llinares Burguet, I (Author) Other; Khantham, C (Author) Other; Burgos, M (Author) Other; Barrionuevo, FJ (Author) Other; Jimenez, R (Author) Other; Sanchez Curbelo, J (Author) Other; Lopez Rodrigo, O (Author) Other; Peraza, MF (Author) Other; Pereira Caetano, I (Author) Other; Marques, PI (Author) Other; carvalho, f (Author) FMUP; barros, a (Author) FMUP; Bassas, L (Author) Other; Seixas, S (Author) Other; Goncalves, J (Author) Other; Larriba, S (Author) Other; Alexandra M Lopes (Author) Other; Palomino Morales, RJ (Author) Other; Carmona, FD (Author) Other

Journal

The Journal is awaiting validation by the Administrative Services.

Title: JOURNAL OF PERSONALIZED MEDICINE

Vol. 5

Pages: 1-22

ISSN: 2075-4426

Publisher: MDPI

Indexing

ISI Web of Knowledge - 9 Citations

Scopus - 9 Citations

Other information

Authenticus ID: P-00T-9E4

DOI: 10.3390/jpm11010022

Abstract (EN): 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.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 19