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Immune and Spermatogenesis-Related Loci are Involved in the Development of Extr...

Cerván-Martín, M; Tüttelmann, F; Lopes, AM; Bossini-Castillo, L; Rivera-Egea, R; Garrido, N; Lujan, S; Romeu, G; Santos-Ribeiro, S; Castilla, JA

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, name...


Evaluation of male fertility-associated loci in a european population of patien...

Cerván-Martín, M; Bossini-Castillo, L; Rivera-Egea, R; Garrido, N; Luján, S; Romeu, G; Santos-Ribeiro, S; Castilla, JA; Gonzalvo, MC; Clavero, A

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 polymorphi...


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