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DOI 10.1038/s42003-022-04192-0

Медицинская библиотека · Communications biology · 2022

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

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

СтатьяПоддержка исследования: вне правительства СШАПеревод в очереди

Аннотация

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 the MHC class II gene HLA-DRB1 (rs1136759, P = 1.32E-08, OR = 1.80) and an upstream locus of VRK1 (rs115054029, P = 4.24E-08, OR = 3.14), which encodes a protein kinase involved in the regulation of spermatogenesis. The SCO-associated rs1136759 allele (G) determines a serine in the position 13 of the HLA-DRβ1 molecule located in the antigen-binding pocket. Overall, our data support the notion of unexplained SPGF as a complex trait influenced by common variation in the genome, with the SCO phenotype likely representing an immune-mediated condition.

Для цитирования: 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. Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility.. Communications biology. 2022. DOI: 10.1038/s42003-022-04192-0.

Предметные рубрики MeSH

HumansMaleGenome-Wide Association StudyInfertility, MaleSpermatogenesisSertoli CellsAllelesProtein Serine-Threonine KinasesIntracellular Signaling Peptides and Proteins
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