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- Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertilityPublication . 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. DavidWe 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.
- European survey of newborn bloodspot screening for CF: opportunity to address challenges and improve performancePublication . Munck, Anne; Berger, Daria O.; Southern, Kevin W.; Carducci, Carla; de Winter-de Groot, Karin M.; Gartner, Silvia; Kashirskaya, Nataliya; Linnane, Barry; Proesmans, Marijke; Sands, Dorota; Sommerburg, Olaf; Castellani, Carlo; Barben, Jürg; Renner, Sabine; Zeyda, Max; de Wachter, Elke; Regal, Luc; Votava, Felix; Holubova, Andrea; Skov, Marianne; Morgan, Tessa; Bregeaut, Paul; O'Grady, Loretta; Bucci, Ines; Pantano, Stefano; Simonetti, Simonetta; De Venuto, Domenica; Salvatore, Donatello; Perrotti, Nicola; Caloiero, Mimma; Castaldo, Giuseppe; Tosco, Antonella; Righetti, Francesca; Pisi, Giovanna; Battistini, Fiorella; Angeloni, Antonio; Cimino, Giuseppe; Fiocchi, Giovanni; Angiolillo, Antonella; Cassanello, Michela; Alberti, Luisella; Claut, Laura E; Badolato, Raffaele; Pavanello, Enza; Fabrizzi, Benedetta; Bignamini, Elisabetta; Cardillo, Anna; Lombardo, Mariangela; Cocciadiferro, Letizia; Termini, Lisa; Dolce, Daniela; Terlizzi, Vito; Tamanini, Anna; Pauro, Francesca; la Marca, Giancarlo; Aleksejeva, Elina; Gaidule-Logina, Dita; Fustik, Stoika; Anastasovska, Violeta; Bouva, Marelle; Reid, Alastair; Cundick, Jennifer; Lundman, Emma; Bakkeheim, Egil; Zybert, Katarzyna; Oltarzewski, Mariusz; Vilarinho, Laura; Sherman, Victoria; Kondratyeva, Elena; Smith, Sarah; Dautovic, Gordana Vilotijevic; Knapkova, Maria; Mydlova, Zuzana; López, Rosa M.; Velasco, Valle; Flores, Felicitas Díaz; Mejeras, Cristóbal Colón; Pedersen, Eva S.L.; Ozcelik, Ugur; Karadag, Bulent; Makukh, Halyna; Stuart, MoatBackground: The aim of this study was to record the current status of newborn bloodspot screening (NBS) for CF across Europe and assess performance. Methods: Survey of representatives of NBS for CF programmes across Europe. Performance was assessed through a framework developed in a previous exercise. Results: In 2022, we identified 22 national and 34 regional programmes in Europe. Barriers to establishing NBS included cost and political inertia. Performance was assessed from 2019 data reported by 21 national and 21 regional programmes. All programmes employed different protocols, with IRT-DNA the most common strategy. Six national and 11 regional programmes did not use DNA analysis. Conclusions: Integrating DNA analysis into the NBS protocol improves PPV, but at the expense of increased carrier and CFSPID recognition. Some programmes employ strategies to mitigate these outcomes. Programmes should constantly strive to improve performance but large datasets are needed to assess outcomes reliably.