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| Pàgina inicial > Articles > Articles publicats > Evaluation of male fertility-associated loci in a european population of patients with severe spermatogenic impairment |
(Instituto de Investigación Sanitaria de Granada) (Instituto de Investigación Sanitaria de Granada) (Instituto de Investigación Sanitaria La Fe) (Instituto de Investigación Sanitaria La Fe) (Instituto de Investigación Sanitaria La Fe) (Faculty of Medicine. University of Lisbon) (CEIFER Biobanco-NextClinics) (Universidad de Granada. Departamento de Genética) (Universidad de Granada. Departamento de Genética) (Faculty of Pharmacy. Chiang Mai University) (Universidad de Granada. Departamento de Genética) (Universidad de Granada. Departamento de Genética) (Universidad de Granada. Departamento de Genética) (Institut d'Investigació Biomèdica Sant Pau) (Institut d'Investigació Biomèdica Sant Pau) (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)) (Serviço de Genética. Faculdade de Medicina da Universidade do Porto) (Serviço de Genética. Faculdade de Medicina da Universidade do Porto) (Institut d'Investigació Biomèdica Sant Pau) (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)) (ToxOmics-Centro de Toxicogenómica e Saúde Humana. Nova Medical School) (Institut d'Investigació Biomèdica de Bellvitge) (Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP)) (Universidad de Granada) (Instituto de Investigación Sanitaria de Granada)
| Data: | 2021 |
| Resum: | 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. |
| Ajuts: | Ministerio de Economía y Competitividad SAF2016-78722-R Ministerio de Economía y Competitividad RYC-2014-16458 Ministerio de Economía y Competitividad IJC2018-038026-I Instituto de Salud Carlos III DTS18/00101 Agència de Gestió d'Ajuts Universitaris i de Recerca 2017SGR191 Agència de Gestió d'Ajuts Universitaris i de Recerca CES09/020 |
| Nota: | Altres ajuts: Fondo Europeo de Desarrollo Regional (FEDER); Universidad de Granada ("Becas de Iniciación a la Investigación para estudiantes de Grado", conv. 2019); Center for Toxicogenomics and Human Health-ToxOmics (UIDB/00009/2020); FCT post-doctoral fellowship (SFRH/BPD/120777/2016), financed from the Portuguese State Budget of the Ministry for Science, Technology and High Education and from the European Social Fund; Portuguese Government (IF/01262/2014); FCT in the framework of the project "Institute for Research and Innovation in Health Sciences" (POCI-01-0145-FEDER-007274). |
| Drets: | Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.  |
| Llengua: | Anglès |
| Document: | Article ; recerca ; Versió publicada |
| Matèria: | SNPs ; Genetic association analysis ; Impaired spermatogenesis ; Non-obstructive azoospermia ; Severe oligospermia ; Infertility |
| Publicat a: | Journal of personalized medicine, Vol. 11 Núm. 1 (january 2021) , p. 1-19, ISSN 2075-4426 |
