Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility

Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility

A GWAS in a large case-control cohort of European ancestry identifies two genomic regions, the MHC class II gene HLA-DRB1 and an upstream locus of VRK1, that are associated with the most severe phenotype of spermatogenic failure.

Bibliographic Details
Main Authors:	Miriam Cerván-Martín, Frank Tüttelmann, Alexandra M. Lopes, Lara Bossini-Castillo, Rocío Rivera-Egea, Nicolás Garrido, Saturnino Lujan, Gema Romeu, Samuel Santos-Ribeiro, José A. Castilla, M. Carmen Gonzalvo, Ana Clavero, Vicente Maldonado, F. Javier Vicente, Sara González-Muñoz, Andrea Guzmán-Jiménez, Miguel Burgos, Rafael Jiménez, Alberto Pacheco, Cristina González, Susana Gómez, David Amorós, Jesus Aguilar, Fernando Quintana, Carlos Calhaz-Jorge, Ana Aguiar, Joaquim Nunes, Sandra Sousa, Isabel Pereira, Maria Graça Pinto, Sónia Correia, Josvany Sánchez-Curbelo, Olga López-Rodrigo, Javier Martín, Iris Pereira-Caetano, Patricia I. Marques, Filipa Carvalho, Alberto Barros, Jörg Gromoll, Lluís Bassas, Susana Seixas, João Gonçalves, Sara Larriba, Sabine Kliesch, Rogelio J. Palomino-Morales, F. David Carmona
Format:	Article
Language:	English
Published:	Nature Portfolio 2022-11-01
Series:	Communications Biology
Online Access:	https://doi.org/10.1038/s42003-022-04192-0

Description
Summary:	A GWAS in a large case-control cohort of European ancestry identifies two genomic regions, the MHC class II gene HLA-DRB1 and an upstream locus of VRK1, that are associated with the most severe phenotype of spermatogenic failure.
ISSN:	2399-3642