A genetic variant in the 3'-UTR of PIWIL4 confers risk for extreme phenotypes of male infertility by altering miR-215 and miR-136 binding affinity.

doi:10.1093/humrep/deaf107

Article

A genetic variant in the 3'-UTR of PIWIL4 confers risk for extreme phenotypes of male infertility by altering miR-215 and miR-136 binding affinity.

Human reproduction (Oxford, England) - 1 Sept 2025

González-Muñoz Sara, Cerván-Martín Miriam, Guzmán-Jiménez Andrea, Rodríguez-Martín Ana Isabel, Garrido Nicolás, Castilla José A, Gonzalvo M Carmen, Clavero Ana, Molina Marta, Vilches Miguel Ángel, Espuch-Oliver Andrea, Maldonado Vicente, García-Peña María Luisa, Galiano-Gutiérrez Noelia, Santamaría Esther, González Cristina, Quintana-Ferraz Fernando, Gómez Susana, Amorós David, Martínez-Granados Luis, Ortega-González Yanira, Burgos Miguel, Pereira-Caetano Iris, Pinto Graça S, Aguiar Ana, Pereira Isabel S, López-Rodrigo Olga, Bassas Lluís, Seixas Susana, Gonçalves João, Lopes Alexandra M, Larriba Sara, Bossini-Castillo Lara, Carmona F David, Palomino-Morales Rogelio J

Abstract excerpt

STUDY QUESTION: What is the functional impact of the rs508485 genetic polymorphism, located in the 3'-untranslated region (UTR) region of the PIWIL4 gene, on non-obstructive azoospermia (NOA)? SUMMARY ANSWER: The rs508485 genetic variant contributes to the pathogenesis of extreme patterns of NOA by modulating PIWIL4 expression through microRNA (miRNA) interactions. WHAT IS KNOWN ALREADY: Male infertility...

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A genetic variant in the 3'-UTR of PIWIL4 confers risk for extreme phenotypes of male infertility by altering miR-215 and miR-136 binding affinity.

Abstract excerpt

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