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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.
Affiliation
  • Cerván-Martín M; Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain.
  • Tüttelmann F; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain.
  • Lopes AM; Institute of Reproductive Genetics, University of Münster, Münster, Germany.
  • Bossini-Castillo L; Instituto de Investigação e Inovação em Saúde, Universidade do Porto (I3S), Porto, Portugal.
  • Rivera-Egea R; Institute of Molecular Pathology and Immunology of the University of Porto (IPATIMUP), Porto, Portugal.
  • Garrido N; Center for Predictive and Preventive Genetics, Institute for Cell and Molecular Biology, University of Porto, Porto, Portugal.
  • Lujan S; Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain.
  • Romeu G; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain.
  • Santos-Ribeiro S; Andrology Laboratory and Sperm Bank, IVI-RMA Valencia, Valencia, Spain.
  • Castilla JA; IVI Foundation, Health Research Institute La Fe, Valencia, Spain.
  • Carmen Gonzalvo M; IVI Foundation, Health Research Institute La Fe, Valencia, Spain.
  • Clavero A; Servicio de Urología. Hospital Universitari i Politecnic La Fe e Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia, Spain.
  • Maldonado V; Servicio de Urología. Hospital Universitari i Politecnic La Fe e Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia, Spain.
  • Vicente FJ; Servicio de Urología. Hospital Universitari i Politecnic La Fe e Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia, Spain.
  • González-Muñoz S; IVI-RMA Lisbon, Lisbon, Portugal.
  • Guzmán-Jiménez A; Department of Obstetrics and Gynecology, Faculty of Medicine, University of Lisbon, Lisbon, Portugal.
  • Burgos M; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain.
  • Jiménez R; Unidad de Reproducción, UGC Obstetricia y Ginecología, HU Virgen de las Nieves, Granada, Spain.
  • Pacheco A; CEIFER Biobanco - GAMETIA, Granada, Spain.
  • González C; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain.
  • Gómez S; Unidad de Reproducción, UGC Obstetricia y Ginecología, HU Virgen de las Nieves, Granada, Spain.
  • Amorós D; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain.
  • Aguilar J; Unidad de Reproducción, UGC Obstetricia y Ginecología, HU Virgen de las Nieves, Granada, Spain.
  • Quintana F; UGC de Obstetricia y Ginecología, Complejo Hospitalario de Jaén, Jaén, Spain.
  • Calhaz-Jorge C; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain.
  • Aguiar A; UGC de Urología, HU Virgen de las Nieves, Granada, Spain.
  • Nunes J; Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain.
  • Sousa S; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain.
  • Pereira I; Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain.
  • Pinto MG; Instituto de Investigación Biosanitaria ibs.GRANADA, Granada, Spain.
  • Correia S; Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain.
  • Sánchez-Curbelo J; Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain.
  • López-Rodrigo O; IVI Foundation, Health Research Institute La Fe, Valencia, Spain.
  • Martín J; Facultad CC Salud, Universidad Alfonso X "El Sabio", Madrid, Spain.
  • Pereira-Caetano I; IVI Foundation, Health Research Institute La Fe, Valencia, Spain.
  • Marques PI; IVI Foundation, Health Research Institute La Fe, Valencia, Spain.
  • Carvalho F; IVI Foundation, Health Research Institute La Fe, Valencia, Spain.
  • Barros A; IVI Foundation, Health Research Institute La Fe, Valencia, Spain.
  • Gromoll J; IVI Foundation, Health Research Institute La Fe, Valencia, Spain.
  • Bassas L; Unidade de Medicina da Reprodução, Departamento de Obstetrícia, Ginecologia e Medicina da Reprodução, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisbon, Portugal.
  • Seixas S; Unidade de Medicina da Reprodução, Departamento de Obstetrícia, Ginecologia e Medicina da Reprodução, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisbon, Portugal.
  • Gonçalves J; Unidade de Medicina da Reprodução, Departamento de Obstetrícia, Ginecologia e Medicina da Reprodução, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisbon, Portugal.
  • Larriba S; Unidade de Medicina da Reprodução, Departamento de Obstetrícia, Ginecologia e Medicina da Reprodução, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisbon, Portugal.
  • Kliesch S; Unidade de Medicina da Reprodução, Departamento de Obstetrícia, Ginecologia e Medicina da Reprodução, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa Norte, Lisbon, Portugal.
  • Palomino-Morales RJ; Centro de Medicina Reprodutiva, Maternidade Dr. Alfredo da Costa, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal.
  • Carmona FD; Centro de Medicina Reprodutiva, Maternidade Dr. Alfredo da Costa, Centro Hospitalar Universitário de Lisboa Central, Lisbon, Portugal.
Commun Biol ; 5(1): 1220, 2022 11 10.
Article in En | MEDLINE | ID: mdl-36357561
ABSTRACT
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-DRß1 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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genome-Wide Association Study / Infertility, Male Limits: Humans / Male Language: En Journal: Commun Biol Year: 2022 Document type: Article Affiliation country: Spain Publication country: ENGLAND / ESCOCIA / GB / GREAT BRITAIN / INGLATERRA / REINO UNIDO / SCOTLAND / UK / UNITED KINGDOM
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genome-Wide Association Study / Infertility, Male Limits: Humans / Male Language: En Journal: Commun Biol Year: 2022 Document type: Article Affiliation country: Spain Publication country: ENGLAND / ESCOCIA / GB / GREAT BRITAIN / INGLATERRA / REINO UNIDO / SCOTLAND / UK / UNITED KINGDOM