Article
Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility.
Communications biology - 10 Nov 2022
Cerván-Martín Miriam, Tüttelmann Frank, Lopes Alexandra M, Bossini-Castillo Lara, Rivera-Egea Rocío, Garrido Nicolás, Lujan Saturnino, Romeu Gema, Santos-Ribeiro Samuel, Castilla José A, Carmen Gonzalvo M, Clavero Ana, Maldonado Vicente, Vicente F Javier, González-Muñoz Sara, Guzmán-Jiménez Andrea, Burgos Miguel, Jiménez Rafael, Pacheco Alberto, González Cristina, Gómez Susana, Amorós David, Aguilar Jesus, Quintana Fernando, Calhaz-Jorge Carlos, Aguiar Ana, Nunes Joaquim, Sousa Sandra, Pereira Isabel, Pinto Maria Graça, Correia Sónia, Sánchez-Curbelo Josvany, López-Rodrigo Olga, Martín Javier, Pereira-Caetano Iris, Marques Patricia I, Carvalho Filipa, Barros Alberto, Gromoll Jörg, Bassas Lluís, Seixas Susana, Gonçalves João, Larriba Sara, Kliesch Sabine, Palomino-Morales Rogelio J, Carmona F David
Abstract excerpt
We conducted a genome-wide association study in a large population of infertile men due to unexplained spermatogenic failure (SPGF). More than seven million genetic variants were analysed in 1,274 SPGF cases and 1,951 unaffected controls from two independent European cohorts. Two genomic regions were associated with the most severe histological pattern of SPGF, defined by Sertoli cell-only (SCO) phenotype, namely...
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