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.
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2022-11-01
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| Series: | Communications Biology |
| Online Access: | https://doi.org/10.1038/s42003-022-04192-0 |
| _version_ | 1811180299413880832 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Miriam Cerván-Martín |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-11T06:47:57Z |
| format | Article |
| id | doaj.art-77b3fe3532a14229aef1e788bb1d7f9d |
| institution | Directory Open Access Journal |
| issn | 2399-3642 |
| language | English |
| last_indexed | 2024-04-11T06:47:57Z |
| publishDate | 2022-11-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Communications Biology |
| spelling | doaj.art-77b3fe3532a14229aef1e788bb1d7f9d2022-12-22T04:39:17ZengNature PortfolioCommunications Biology2399-36422022-11-015111310.1038/s42003-022-04192-0Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertilityMiriam Cerván-Martín0Frank Tüttelmann1Alexandra M. Lopes2Lara Bossini-Castillo3Rocío Rivera-Egea4Nicolás Garrido5Saturnino Lujan6Gema Romeu7Samuel Santos-Ribeiro8José A. Castilla9M. Carmen Gonzalvo10Ana Clavero11Vicente Maldonado12F. Javier Vicente13Sara González-Muñoz14Andrea Guzmán-Jiménez15Miguel Burgos16Rafael Jiménez17Alberto Pacheco18Cristina González19Susana Gómez20David Amorós21Jesus Aguilar22Fernando Quintana23Carlos Calhaz-Jorge24Ana Aguiar25Joaquim Nunes26Sandra Sousa27Isabel Pereira28Maria Graça Pinto29Sónia Correia30Josvany Sánchez-Curbelo31Olga López-Rodrigo32Javier Martín33Iris Pereira-Caetano34Patricia I. Marques35Filipa Carvalho36Alberto Barros37Jörg Gromoll38Lluís Bassas39Susana Seixas40João Gonçalves41Sara Larriba42Sabine Kliesch43Rogelio J. Palomino-Morales44F. David Carmona45Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica (CIBM), Universidad de GranadaInstitute of Reproductive Genetics, University of MünsterInstituto de Investigação e Inovação em Saúde, Universidade do Porto (I3S)Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica (CIBM), Universidad de GranadaAndrology Laboratory and Sperm Bank, IVI-RMA ValenciaIVI Foundation, Health Research Institute La FeServicio de Urología. Hospital Universitari i Politecnic La Fe e Instituto de Investigación Sanitaria La Fe (IIS La Fe)Servicio de Urología. Hospital Universitari i Politecnic La Fe e Instituto de Investigación Sanitaria La Fe (IIS La Fe)IVI-RMA LisbonInstituto de Investigación Biosanitaria ibs.GRANADAInstituto de Investigación Biosanitaria ibs.GRANADAInstituto de Investigación Biosanitaria ibs.GRANADAUGC de Obstetricia y Ginecología, Complejo Hospitalario de JaénInstituto de Investigación Biosanitaria ibs.GRANADADepartamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica (CIBM), Universidad de GranadaDepartamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica (CIBM), Universidad de GranadaDepartamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica (CIBM), Universidad de GranadaDepartamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica (CIBM), Universidad de GranadaIVI Foundation, Health Research Institute La FeIVI Foundation, Health Research Institute La FeIVI Foundation, Health Research Institute La FeIVI Foundation, Health Research Institute La FeIVI Foundation, Health Research Institute La FeIVI Foundation, Health Research Institute La FeUnidade de Medicina da Reprodução, Departamento de Obstetrícia, Ginecologia e Medicina da Reprodução, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa NorteUnidade de Medicina da Reprodução, Departamento de Obstetrícia, Ginecologia e Medicina da Reprodução, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa NorteUnidade de Medicina da Reprodução, Departamento de Obstetrícia, Ginecologia e Medicina da Reprodução, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa NorteUnidade de Medicina da Reprodução, Departamento de Obstetrícia, Ginecologia e Medicina da Reprodução, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa NorteUnidade de Medicina da Reprodução, Departamento de Obstetrícia, Ginecologia e Medicina da Reprodução, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa NorteCentro de Medicina Reprodutiva, Maternidade Dr. Alfredo da Costa, Centro Hospitalar Universitário de Lisboa CentralCentro de Medicina Reprodutiva, Maternidade Dr. Alfredo da Costa, Centro Hospitalar Universitário de Lisboa CentralLaboratory of Seminology and Embryology, Andrology Service, Fundació PuigvertLaboratory of Seminology and Embryology, Andrology Service, Fundació PuigvertInstituto de Parasitología y Biomedicina ‘López-Neyra’, IPBLN-CSIC, PTS GranadaDepartamento de Genética Humana, Instituto Nacional de Saúde Dr. Ricardo JorgeInstituto de Investigação e Inovação em Saúde, Universidade do Porto (I3S)Instituto de Investigação e Inovação em Saúde, Universidade do Porto (I3S)Instituto de Investigação e Inovação em Saúde, Universidade do Porto (I3S)Institute of Reproductive and Regenerative Biology, Centre of Reproductive Medicine and Andrology, University of Münster, University ClinicsLaboratory of Seminology and Embryology, Andrology Service, Fundació PuigvertInstituto de Investigação e Inovação em Saúde, Universidade do Porto (I3S)Departamento de Genética Humana, Instituto Nacional de Saúde Dr. Ricardo JorgeHuman Molecular Genetics Group, Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de LlobregatDepartment of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, University Hospital MünsterInstituto de Investigación Biosanitaria ibs.GRANADADepartamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica (CIBM), Universidad de GranadaA 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.https://doi.org/10.1038/s42003-022-04192-0 |
| spellingShingle | 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 Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility Communications Biology |
| title | Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility |
| title_full | Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility |
| title_fullStr | Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility |
| title_full_unstemmed | Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility |
| title_short | Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility |
| title_sort | immune and spermatogenesis related loci are involved in the development of extreme patterns of male infertility |
| url | https://doi.org/10.1038/s42003-022-04192-0 |
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