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1. IFNL4 genotype influences the rate of HIV-1 seroconversion in men who have sex with men

Author

Meza, Giovanna, Galián, Fátima, Jaimes-Bernal, Claudia, Márquez, Francisco J, Sinangil, Faruk, Scagnolari, Carolina, Real, Luis Miguel, Forthal, Donald, and Caruz, Antonio

Subjects
Medical Microbiology, Biomedical and Clinical Sciences, HIV/AIDS, Infectious Diseases, Genetics, Prevention, Infection, Good Health and Well Being, Genotype, HIV Infections, HIV-1, Homosexuality, Male, Humans, Interferons, Interleukins, Male, Seroconversion, Sexual and Gender Minorities, HESN, HIV exposed seronegative, IFNL4, IL28B, Ecological Applications, Microbiology, Medical microbiology
Abstract

Individuals lacking interferon lambda 4 (IFNL4) protein due to a common null mutation (rs368234815) in the IFNL4 gene display higher resistance against several infections. The influence of IFNL4 on HIV-1 infection is still under discussion and conflicting results have been reported. This study intended to corroborate or refute the association of the null allele of IFNL4 and HIV-1 predisposition in a cohort of men who have sex with men (MSM). IFNL4 null genotype was assessed on 619 HIV-1-seronegative MSM who were followed for 36 months during a trial of a prophylactic vaccine against HIV-1. Of those, 257 individuals seroconverted during this period. A logistic regression model was constructed including demographic and IFNL4 genotype. In addition, a meta-analysis using data from the current study and other European populations was conducted. The null IFNL4 genotypes were correlated with lower HIV-1 seroconversion (Adjusted OR = 0.4 [95%CI: 0.2-0.8], P = 0.008) and longer time to seroconversion (889 vs. 938 days, P= 0.01). These results were validated by a meta-analysis incorporating data from other European populations and the result yielded a significant association of the IFNL4 null genotype under a dominant model with a lower probability of HIV-1 infection (OR=0.4 [95% CI: 0.3-0.6]; P= 1.3 x 10E-5).

Published
2022

4. CD46 Genetic Variability and HIV-1 Infection Susceptibility

Author

Serrano-Rísquez, Carmen, Omar, Mohamed, Gómez-Vidal, María Amparo, Real, Luis Miguel, Pineda, Juan Antonio, Rivero, Antonio, Rivero-Juárez, Antonio, Forthal, Donald, Márquez, Francisco J, Caputo, Sergio Lo, Clerici, Mario, Biasin, Mara, and Caruz, Antonio

Subjects
Clinical Research, Biotechnology, Substance Misuse, HIV/AIDS, Genetics, Infectious Diseases, 2.1 Biological and endogenous factors, Aetiology, Infection, Good Health and Well Being, Female, Gene Expression Regulation, Gene Frequency, Genetic Predisposition to Disease, Genetic Variation, HIV Infections, HIV Seronegativity, Humans, Male, Membrane Cofactor Protein, Polymorphism, Single Nucleotide, Substance Abuse, Intravenous, HIV-1, HIV exposed seronegative, HESN, CD46, complement
Abstract

CD46 is the main receptor for complement protein C3 and plays an important role in adaptive immune responses. CD46 genetic variants are associated with susceptibility to several infectious and autoimmune diseases. Additionally, CD46 function can be subverted by HIV-1 to evade attack by complement, a strategy shared by viruses of other families. We sought to determine the association between CD46 gene variants and HIV-1 acquired through intravenous drug use (IDU) and sexual routes (n = 823). Study subjects were of European ancestry and were HIV-1 infected (n = 438) or exposed but seronegative (n = 387). Genotyping of the rs2796265 SNP located in the CD46 gene region was done by allele-specific real-time PCR. A meta-analysis merging IDU and sexual cohorts indicates that the minor genotype (CC) was associated with increased resistance to HIV-1 infection OR = 0.2, 95% CI (0.07-0.61), p = 0.004. The HIV-1-protective genotype is correlated with reduced CD46 expression and alterations in the ratio of CD46 mRNA splicing isoforms.

Published
2021

5. Immunological and senescence biomarker profiles in patients after spontaneous clearance of hepatitis C virus: gender implications for long-term health risk

Author

Martín-Escolano, Rubén, Vidal-Alcántara, Erick Joan, Crespo, Javier, Ryan, Pablo, Real, Luis Miguel, Lazo-Álvarez, Juan Ignacio, Cabezas-González, Joaquín, Macías, Juan, Arias-Loste, María Teresa, Cuevas, Guillermo, Virseda-Berdices, Ana, Briz, Veronica, Resino, Salvador, Jiménez-Sousa, María Ángeles, and Fernández-Rodríguez, Amanda

Published
2023
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6. Expanding HIV clinical monitoring: the role of CD4, CD8, and CD4/CD8 ratio in predicting non-AIDS events

Author

Jarrín, Inma, Dalmau, David, Navarro, M. Luisa, González, M. Isabel, Garcia, Federico, Poveda, Eva, Iribarren, Jose Antonio, Gutiérrez, Félix, Rubio, Rafael, Vidal, Francesc, Berenguer, Juan, González, Juan, Muñoz-Fernández, M. Ángeles, Jarrín, Inmaculada, Moreno, Cristina, Rava, Marta, Izquierdo, Rebeca, Mauleón, Elba, Portilla, Joaquín, Portilla, Irene, Merino, Esperanza, García, Gema, Agea, Iván, Sánchez-Payá, José, Rodríguez, Juan Carlos, Giner, Livia, Reus, Sergio, Boix, Vicente, Torrus, Diego, Pérez, Verónica, Portilla, Julia, Gómez, Juan Luís, Hernández, Jehovana, Lirola, Ana López, García, Dácil, Díaz-Flores, Felicitas, Alonso, M. Mar, Pelazas, Ricardo, Alemán, M. Remedios, Asensi, Víctor, Rivas Carmenado, María Eugenia, Suarez-Zarracina, Tomás, Pulido, Federico, Bisbal, Otilia, Hernando, M. Asunción, Rial, David, de Lagarde, María, Arce, Octavio, Pinto, Adriana, Bermejo, Laura, Santacreu, Mireia, Navarro, Roser, Gonzalez, Candela, Aramburu, M. José, Camino, Xabier, Ángel von Wichmann, Miguel, Goenaga, Miguel Ángel, Bustinduy, M. Jesús, Azkune, Harkaitz, Ibarguren, Maialen, Kortajarena, Xabier, Álvarez-Rodriguez, Ignacio, Gil, Leire, Martínez, Lourdes, Robledano, Catalina, Masiá, Mar, Padilla, Sergio, Adsuar, Araceli, Pascual, Rafael, Fernández, Marta, Galiana, Antonio, García, José Alberto, Barber, Xavier, Agullo, Vanessa, Abellán, Javier Garcia, Pascual, Reyes, Telenti, Guillermo, Guillén, Lucia, Botella, Ángela, Muga, Roberto, Sanvisens, Arantza, Fuster, Daniel, Gutierrez, Isabel, López, Juan Carlos, Ramírez, Margarita, Padilla, Belén, Gijón, Paloma, Aldamiz-Echevarría, Teresa, Tejerina, Francisco, Diez, Cristina, Pérez, Leire, Fanciulli, Chiara, Corral, Saray, Martí, Anna, Peraire, Joaquín, Viladés, Consuelo, Vargas, Montserrat, Olona, Montserrat, Rull, Anna, Alba, Verónica, Yeregui, Elena, Masip, Jenifer, García-Pardo, Graciano, Bertomeu, Frederic Gómez, Espineira, Sonia, Montero, Marta, Cuéllar, Sandra, Blanes, Marino, Tasias, María, Calabuig, Eva, Salavert, Miguel, Fernández, Juan, Segarra, Inmaculada, González-García, Juan, Delgado, Ana, Arnalich, Francisco, Arribas, José Ramón, Bernardino, Jose Ignacio, Castro, Juan Miguel, Escosa, Luis, Herranz, Pedro, Hontañón, Victor, García-Bujalance, Silvia, García, Milagros, González-Baeza, Alicia, Martín-Carbonero, M. Luz, Mayoral, Mario, Mellado, M. Jose, Esteban, Rafael, Montejano, Rocío, Montes, M. Luisa, Moreno, Victoria, Pérez-Valero, Ignacio, Rodés, Berta, Rúa, Guadalupe, Sainz, Talía, Sendagorta, Elena, Valencia, Eulalia, Busca, Carmen, Cano, Joanna, Cardiñanos, Julen, de Miguel, Rosa, Blanco, Jose Ramón, Pérez-Martínez, Laura, Oteo, José Antonio, Ibarra, Valvanera, Metola, Luis, Sanz, Mercedes, Arazo, Piedad, Sampériz, Gloria, Martinez, Marina, Jaén, Angels, Sanmartí, Montse, Cairó, Mireia, Martinez-Lacasa, Javier, Velli, Pablo, Font, Roser, Xercavins, Mariona, Alonso, Noemí, Aiello, Francesco, Rivero, María, Piérola, Beatriz, Goikoetxea, Maider, Gracia, María, Ibero, Carlos, Moreno, Estela, Repáraz, Jesús, Navarro, Gemma, Garcia, Manel Cervantes, Isbert, Sonia Calzado, Vilasaro, Marta Navarro, Garcia, Belen Lopez, Santos, Ignacio de los, Santos, Alejandro de los, Sanz, Jesús, García-Fraile, Lucio, Martín, Enrique, Sánchez-Cerrillo, Ildefonso, Calvet, Marta, Barrios, Ana, Bautista, Azucena, Sáez, Carmen, Ciudad, Marianela, Gutiérrez, Ángela, Moreno, Santiago, Campo, Santos del, Casado, José Luis, Dronda, Fernando, Moreno, Ana, Pérez, M. Jesús, Serrano, Sergio, Vivancos, M<ce:sup loc='post">a</ce:sup> Jesús, Martínez-Sanz, Javier, Vallejo, Alejandro, Sanchez, Matilde, Pérez-Molina, Jose Antonio, Hermida, José Manuel, Bernal, Enrique, Alcaraz, Antonia, Bravo, Joaquín, Muñoz, Ángeles, Tomás, Cristina, Martínez, Mónica, Villalba, M. Carmen, García, Federico, Martínez, Clara, Hernández, José, Medina, Leopoldo Muñoz, Álvarez, Marta, Chueca, Natalia, Vinuesa, David, de Salazar, Adolfo, Fuentes, Ana, Guirao, Emilio, Viñuela, Laura, Ruiz-Sancho, Andrés, Anguita, Francisco, Del Romero, Jorge, Raposo, Montserrat, Rodríguez, Carmen, Puerta, Teresa, Carrió, Juan Carlos, Vera, Mar, Ballesteros, Juan, Ayerdi, Oskar, Baza, Begoña, Orviz, Eva, Antela, Antonio, Losada, Elena, Riera, Melchor, Peñaranda, María, Ribas, M. Angels, Campins, Antoni A., Garcia-Gazalla, Mercedes, Fanjul, Francisco J., Murillas, Javier, Homar, Francisco, Vilchez, Helem H., Martin, Luisa, Payeras, Antoni, Santos, Jesús, López, María, Gómez, Crisitina, Viciana, Isabel, Palacios, Rosario, López-Cortés, Luis Fernando, Espinosa, Nuria, Roca, Cristina, Llaves, Silvia, Tiraboschi, Juan Manuel, Imaz, Arkaitz, Silva, Ana Karina, Saumoy, María, Scévola, Sofía Catalina, Curran, Adrián, Falcó, Vicenç, Navarro, Jordi, Burgos, Joaquin, Suanzes, Paula, García, Jorge, Descalzo, Vicente, Álvarez, Patricia, Planas, Bibiana, Sanchiz, Marta, Rodríguez, Lucía, Olalla, Julián, Sánchez, M José, Pérez, Javier, Arco, Alfonso del, Torre, Javier de la, Prada, José Luis, Martínez, Onofre Juan, Martinez, Lorena, Vera, Francisco Jesús, García, Josefina, Alcaraz, Begoña, Sánchez Guirao, Antonio Jesús, Mena, Alvaro, Castro, Angeles, Pernas, Berta, Vázquez, Pilar, López, Soledad, Ibarra, Sofía, García, Guillermo, Mirena, Josu, Ferrero, Oscar Luis, López, Josefina, Cámara, M. Mar, Peña, Mireia de la, Lopez, Miriam, Lopez, Iñigo, Lombide, Itxaso, Polo, Victor, de Miguel, Joana, Galera, Carlos, Fernández, Marian, Albendin, Helena, Castillo, Antonia, Iborra, Asunción, Moreno, Antonio, Merlos, M. Angustias, Vidal, Asunción, Amador, Concha, Pasquau, Francisco, Gil, Concepcion, Algado, Jose Tomás, Suarez-García, Inés, Malmierca, Eduardo, González-Ruano, Patricia, Ruiz, M. Pilar, Pascual, José Francisco, Sáez, Elena, Balsalobre, Luz, López, M. Villa, Omar, Mohamed, Herrero, Carmen, Gómez, M. Amparo, Alberto de Zarraga, Miguel, Pérez, Desiré, Estrada, Vicente, Sanz, Nieves, Cabello, Noemí, García, Jorge Vergas, Núñez, Maria Jose, Sagastagoitia, Iñigo, Górgolas, Miguel, Cabello, Alfonso, Álvarez, Beatriz, Prieto, Laura, Carrillo, Irene, Sanz, José, Arranz, Alberto, Hernández, Cristina, Novella, María, Galindo, M. José, Ferrer, Ana, Román, Antonio Rivero, Ruíz, Inma, Juárez, Antonio Rivero, López, Pedro, Machuca, Isabel, Frias, Mario, Camacho, Ángela, Pérez, Ignacio, Corona, Diana, Cervero, Miguel, Torres, Rafael, Pineda, Juan Antonio, Rincón, Pilar, Macías, Juan, Real, Luis Miguel, Corma, Anais, Gonzalez-Serna, Alejandro, Pérez, Alexandre, Morano, Luis, Miralles, Celia, Ocampo, Antonio, Pousada, Guillermo, Patiño, Lucía, Dueñas, Carlos, Gutiérrez, Sara, Tapia, Elena, Novoa, Cristina, Egües, Xjoylin, Telleria, Pablo, Díaz-Álvarez, Jorge, Rosas Cancio-Suarez, Marta, Ron, Raquel, Iribarren, José Antonio, Ruiz Sancho, Andrés, Cabello, Noemi, and Serrano-Villar, Sergio

Published
2023
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7. A metagenome-wide association study of HIV disease progression in HIV controllers

Author

Real, Luis Miguel, Sáez, María E., Corma-Gómez, Anais, Gonzalez-Pérez, Antonio, Thorball, Christian, Ruiz, Rocío, Jimenez-Leon, María Reyes, Gonzalez-Serna, Alejandro, Gasca-Capote, Carmen, Bravo, María José, Royo, José Luis, Perez-Gomez, Alberto, Camacho-Sojo, María Inés, Gallego, Isabel, Vitalle, Joana, Bachiller, Sara, Gutierrez-Valencia, Alicia, Vidal, Francisco, Fellay, Jacques, Lichterfeld, Mathias, and Ruiz-Mateos, Ezequiel

Published
2023
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9. The absence of seroconversion after exposition to hepatitis C virus is not related to KIR-HLA genotype combinations (GEHEP-012 study)

Author

Sociedad Española de Enfermedades Infecciosas y Microbiología Clínica, Junta de Andalucía, Centro de Investigación Biomédica en Red de Enfermedades Infecciosas (España), Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Agencia Estatal de Investigación (España), European Commission, Servicio Andaluz de Salud, Royo, José Luis [0000-0003-2024-4363], Pineda, Juan A. [0000-0002-3751-0296], Real, Luis Miguel [0000-0003-4932-7429], Martín-Sierra, Carmen, Bravo, María José, Sáez, María Eugenia, Rojas, Itziar de, Santos, Marta, Martín-Carmona, Jesica, Corma-Gómez, Anaïs, González-Serna, Alejandro, Royo, José Luis, Pineda, Juan A., Rivero, Antonio, Rivero-Juárez, Antonio, Macías, Juan, Real, Luis Miguel, Sociedad Española de Enfermedades Infecciosas y Microbiología Clínica, Junta de Andalucía, Centro de Investigación Biomédica en Red de Enfermedades Infecciosas (España), Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Agencia Estatal de Investigación (España), European Commission, Servicio Andaluz de Salud, Royo, José Luis [0000-0003-2024-4363], Pineda, Juan A. [0000-0002-3751-0296], Real, Luis Miguel [0000-0003-4932-7429], Martín-Sierra, Carmen, Bravo, María José, Sáez, María Eugenia, Rojas, Itziar de, Santos, Marta, Martín-Carmona, Jesica, Corma-Gómez, Anaïs, González-Serna, Alejandro, Royo, José Luis, Pineda, Juan A., Rivero, Antonio, Rivero-Juárez, Antonio, Macías, Juan, and Real, Luis Miguel

Abstract

[Background & aims] It has been reported that specific killer-cell immunoglobulin-like receptors (KIRs) and HLA genotype combinations, such as KIR2DS4/HLA-C1 with presence of KIRDL2 or KIRDL3, homozygous KIRDL3/HLA-C1 and KIR3DL1/≥2HLA-Bw4, are strongly associated with the lack of active infection and seroconversion after exposition to hepatitis C virus (HCV)., [Objective] To determine whether these KIR-HLA combinations are relevant factors involved in that phenotype., [Patients and methods] In this retrospective case-control study, genotype data from a genome-wide association study previously performed on low susceptibility to HCV-infection carried out on 27 high-risk HCV-seronegative (HRSN) individuals and 743 chronically infected (CI) subjects were used. HLA alleles were imputed using R package HIBAG v1.2223 and KIR genotypes were imputed using the online resource KIR*IMP v1.2.0., [Results] It was possible to successfully impute at least one KIR-HLA genotype combination previously associated with the lack of infection and seroconversion after exposition to HCV in a total of 23 (85.2%) HRSN individuals and in 650 (87.5%) CI subjects. No KIR-HLA genotype combination analyzed was related to the HRSN condition., [Conclusions] Our results suggest that those KIR-HLA genotype combinations are not relevant factors involved in the lack of infection and seroconversion after exposition to HCV. More studies will be needed to completely understand this phenotype.

Published
2024

10. HERC1 E3 Ubiquitin Ligase Is Necessary for Autophagy Processes and for the Maintenance and Homeostasis of Vesicles in Motor Nerve Terminals, but Not for Proteasomal Activity.

Author

Pérez-Castro, Miguel Ángel, Hernández-Rasco, Francisco, Alonso-Bellido, Isabel María, Letrán-Sánchez, María S., Pérez-Villegas, Eva María, Vitallé, Joana, Real, Luis Miguel, Ruiz-Mateos, Ezequiel, Venero, José Luis, Tabares, Lucía, Carrión, Ángel Manuel, Armengol, José Ángel, Bachiller, Sara, and Ruiz, Rocío

Subjects
PERIPHERAL nervous system, MYONEURAL junction, NERVE endings, CLATHRIN, HOMEOSTASIS
Abstract

The ubiquitin proteasome system (UPS) is implicated in protein homeostasis. One of the proteins involved in this system is HERC1 E3 ubiquitin ligase, which was associated with several processes including the normal development and neurotransmission at the neuromuscular junction (NMJ), autophagy in projection neurons, myelination of the peripheral nervous system, among others. The tambaleante (tbl) mouse model carries the spontaneous mutation Gly483Glu substitution in the HERC1 E3 protein. Using this model, we analyzed the implication of HERC1 E3 ubiquitin ligase in the activity of UPS, autophagy, and synaptic homeostasis in brain and muscle tissues. Regarding UPS, no differences were found in its activity nor in the specific gene expression in both brain and muscle tissues from tbl compared with the control littermates. Furthermore, the use of the specific UPS inhibitor (MG-132), did not alter the evoked neurotransmitter release in the levator auris longus (LAL) muscle. Interestingly, the expression of the autophagy-related gene p62 was significantly increased in the muscle of tbl compared to the control littermates. Indeed, impaired evoked neurotransmitter release was observed with the autophagy inhibitor Wortmannin. Finally, altered levels of Clathrin and Synaptophysin were detected in muscle tissues. Altogether, our findings show that HERC1 E3 ubiquitin ligase mutation found in tbl mice alters autophagy and vesicular recycling without affecting proteasomal function. [ABSTRACT FROM AUTHOR]

Published
2025
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12. Effects of first-line antiretroviral therapy on the CD4/CD8 ratio and CD8 cell counts in CoRIS: a prospective multicentre cohort study

Author

Jarrin, Inmaculada, Moreno, Santiago, Alejos, Belén, Muñoz-Fernández, MÁngeles, Consuegra, Irene, Merino, Esperanza, García, Gema, Lirola, Ana López, García, Dácil, Asensi, Víctor, Valle, Eulalia, Rubio, Rafael, Pulido, Federico, Iribarren, José Antonio, Arrizabalaga, Julio, Gutiérrez, Félix, Masiá, Mar, Muga, Roberto, Sanvisens, Arantza, Berenguer, Juan, Vidal, Francesc, Montero, Marta, Blanco, José Ramón, López Bernarlo de Quirós, Juan Carlos, González-Garcia, Juan, Peraire, Joaquín, Arazo, Piedad, López-Aldeguer, José, Dalmau, David, Arnalich, Francisco, Rivero, Maria, Oteo, José Antonio, Sampériz, Gloria, Amengual, María José, Jaén, Angels, de los Santos, Ignacio, Repáraz, Jesús, Navarro, Gemma, Bernal, Enrique, Sanz, Jesús, Viciana, Pompeyo, García, Federico, Casado, José Luis, Del Romero, Jorge, Cano, Alfredo, Antela, Antonio, Quero, José Hernández, Riera, Melchor, Raposo, Montserrat, Santos, Jesús, Losada, Elena, Daniel, Podzamczer, Peñaranda, María, Ayerbe, Cristina Gómez, Espinosa, Nuria, Olalla, Julián, Imaz, Arkaitz, Martínez, Onofre, Curran, Adrian, Castro, Ángeles, Pérez Stachowski, Javier, Muñoz, Josefa, Vera, Francisco Jesús, Galera, Carlos, Pernas, Berta, Amador, Concha, Zuriñe, Miren, Albendin, Helena, Suárez-García, Inés, Pasquau, Francisco, Omar, Mohamed, Malmierca, Eduardo, de Zarraga, Miguel Alberto, Gómez Vidal, María Amparo, Estrada, Vicente, Górgolas, Miguel, Sanz, José, Téllez, María Jesús, Galindo, María José, Cabello, Alfonso, Rivero, Antonio, Arranz, Alberto, Cervero, Miguel, Vilalta, Ramón, Pineda, Juan A, Rivero-Juárez, Antonio, Torres, Rafael, Poveda, Eva, Rincón, Pilar, Pérez, Alexandre, Moreno, Cristina, Portilla, Irene, Díaz-Flores, Felicitas, Rivas, María E, Bisbal, Otilia, Aramburu, María J, Padilla, Sergio, Fuster, Daniel, Gutiérrez, Isabel, Viladés, Consuelo, Blanes, Marino, Arribas, José Ramón, Ibarra, Valvanera, Sanmartí, Montse, de Alda, María Ruiz, Cervantes, Manel, Salas, Ana, Dronda, Fernando, Alcaraz, Antonia, Muñoz, Leopoldo, Rodríguez, Carmen, Ribas, María Angels, Viciana, Isabel, López-Cortés, Luis, Tiraboschi, Juan, del Arco, Alfonso, Martínez, Lorena, Mena, Álvaro, Mirena, Josu, Pérez, Aurora, Ena, Javier, González-Ruano, Patricia, Vergas, Jorge, Álvarez, Beatriz, Hernández, Cristina, Ferrer, Ana, López, Pedro, Macías, Juan, Crespo, Manuel, Navarro, Maria Luisa, Iniesta, Carlos, Agea, Iván, Gómez, Juan Luis, Suárez-Zarracina, Tomás, Hernando, Asunción, Camino, Xabier, Robledano, Catalina, Ramírez, Margarita, Veloso, Sergio, Tasias, María, Bernardino, Jose Ignacio, Metola, Luis, Cairó, Mireia, de León Cano, María Teresa, Calzado, Sonia, Sarria, Cristina, Moreno, Ana, Bravo, Joaquín, Alvarez, Marta, Puerta, Teresa, Campins, Antoni A, Palacios, Rosario, Silva, Ana, de la Torre, Javier, García, Josefina, Ibarra, Sofía, Iborra, Asunción, Benito, Concha, Martín, Dolores, Pérez-Somarriba, Juncal, Prieto, Laura, Novella, María, Machuca, Isabel, Merchante, Nicolás, Morano, Luis, González, Maria Isabel, García, Luis NM, Portilla, Joaquín, Alonso, María del Mar, Pérez, Laura, Domínguez, Lourdes, Rodríguez-Arrondo, Francisco, Colomé, Joan Gregori, Padilla, Belén, Vargas, Montserrat, Castro, Iván, Castro, Juan Miguel, Sanz, Mercedes, Martinez-Lacasa, Javier, Pierola, Beatriz, Navarro, Marta, Garcia-Fraile, Lucio, Pérez-Elias, Maria Jesús, Muñoz, Ángeles, Chueca, Natalia, Carrió, Juan Carlos, Vidal, Carmen, Pérez, Carmen, Saumoy, María, Prada, José Luis, Alcaraz, Begoña, Ferrero, Oscar, Moreno, Antonio, Fenoll, Vicenta, Ruiz, Mª Pilar, Frias, Mario, Real, Luis Miguel, Miralles, Celia, Garcia, Federico, Sanz, Nieves, Sánchez-Payá, José, Pelazas, Ricardo, Rial, David, von Wichman, Miguel Ángel, Adsuar, Araceli, Gijón, Paloma, Olona, Montserrat, Calabuig, Eva, Delgado, Ana, Pérez-Martínez, Laura, Velli, Pablo, Martín-Gayo, Enrique, Gutiérrez, Carolina, Alcaraz, Maria José, Vinuesa, David, Vera, Mar, Fanjul, Francisco, Gonzalez-Domenec, Carmen, Prieto, Paula, de las Lomas, José N García, Jimeno, Amaya, López, Josefina, Merlos, Maria, Gil, Concepción, Camacho, Angela, Corma, Anais, Ocampo, Antonio, Rava, Marta, Rodríguez, Juan Carlos, Hernández, Jehovana, Bermejo, Laura, Pascual, Lidia, Pascual, Rafael, Aldamiz-Echevarría, Teresa, Rull, Anna, Cuéllar, Sandra, Escosa, Luis, Font, Roser, Madrid, Nadia, del Carmen Villalba, Maria, Martinez-Montes, Clara, Ballesteros, Juan, Murillas, Javier, Cámara, María Mar, Vidal, Asunción, Algado, José Tomas, Fernández, Marta, Pousada, Guillermo, Iribarren, Jose Antonio, Gimeno, Lina, Alemán, María Remedios, Santacreu, Mireia, Goenaga, Miguel Ángel, Tejerina, Francisco, Rodríguez-Gallego, Esther, Salavert, Miguel, Herranz, Pedro, Martinez, Marina, del Campo, Santos, Guerrero, Carlos, Ayerdi, Oskar, Homar, Francisco, de la Peña, Mireia, Meca, Marisa, Díez, Marcos, Azkune, Harkaitz, Barber, Xavier, Balsalobre, Pascual, Castellanos, Alfonso Javier, García-Bujalance, Silvia, Vivancos, Maria Jesús, Fuentes, Ana, Martin, Maria Luisa, Lopez, Iñigo, Vilchez, Helem, Lopez, Miriam, Carreres, Melissa, Ibarguren, Maialen, Agullo, Vanessa, Diez, Cristina, López-Dupla, Miguel, García, Milagros, Umerez, Maitane, Martínez-Sanz, Javier, Payeras, Antoni, Reus, Sergio, Lizardi, Aitziber, Garcia, Javier, Pérez, Leire, González-Baeza, Alicia, Anxa, Usua, González, Juan, Boix, Vicente, Kortajarena, Xabier, Pascual, Reyes, Fanciulli, Chiara, Martín-Carbonero, Maria Luz, Mellado, Maria José, Micán, Rafael, Montejano, Rocio, Montes, María Luisa, Moreno, Victoria, Pérez-Valero, Ignacio, Rúa, Guadalupe, Rodés, Berta, Sainz, Talia, Sendagorta, Elena, Stella, Natalia, Valencia, Eulalia, Velasco, Tamara, Muñoz-Fernández, María Ángeles, Torrús, Diego, Carmona, María Pilar, Roca, María, Mayoral, Mario, Vallejo, Alejandro, Serrano-Villar, Sergio, Ron, Raquel, Talavera-Rodríguez, Alba, Fernández-Felix, Borja M, Herrera, Sabina, Muriel, Alfonso, de Zárraga, Miguel Alberto, and Vivancos, María J

Published
2020
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13. Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project

Author

Abdelnour, C., Aguilera, N., Alarcon, E., Alegret, M., Benaque, A., Boada, M., Buendia, M., Cañabate, P., Carracedo, A., Corbatón, A., de Rojas, I., Diego, S., Espinosa, A., Gailhajenet, A., García González, P., Gil, S., Guitart, M., González Pérez, A., Hernández, I., Ibarria, M., Lafuente, A., Macias, J., Maroñas, O., Martín, E., Martínez, M.T., Marquié, M., Mauleón, A., Monté-Rubio, G., Montrreal, L., Moreno-Grau, S., Moreno, M., Orellana, A., Ortega, G., Pancho, A., Pelejà, E., Pérez-Cordon, A., Pineda, J.A., Preckler, S., Quintela, I., Real, L.M., Rodríguez-Gómez, O., Rosende-Roca, M., Ruiz, A., Ruiz, S., Sáez, M.E., Sanabria, A., Santos-Santos, M.A., Serrano-Rios, M., Sotolongo-Grau, O., Tárraga, L., Valero, S., Vargas, L., Adarmes-Gómez, A.D., Alarcón-Martín, E., Álvarez, I., Álvarez, V., Amer-Ferrer, Goo, Antequera, M., Antúnez, C., Baquero, M., Bernal, M., Blesa, R., Buiza-Rueda, D., Bullido, M.J., Burguera, J.A., Calero, M., Carrillo, F., Carrión-Claro, M., Casajeros, M.J., Clarimón, J., Cruz-Gamero, J.M., de Pancorbo, M.M., del Ser, T., Diez-Fairen, M., Fortea, J., Franco, E., Frank-García, A., García-Alberca, J.M., Garcia Madrona, S., Garcia-Ribas, G., Gómez-Garre, P., Hevilla, S., Jesús, S., Espinosa, Labrador, Lage, C., Legaz, A., Lleó, A., López de Munáin, A., López-García, S., Macias, D., Manzanares, S., Marín, M., Marín-Muñoz, J., Marín, T., Martín Montes, A., Martínez, B., Martínez, C., Martínez, V., Martínez-Lage Álvarez, P., Medina, M., Mendioroz Iriarte, M., Menéndez-González, M., Mir, P., Molinuevo, J.L., Pastor, A.B., Pastor, P., Pérez Tur, J., Periñán-Tocino, T., Piñol Ripoll, G., Rábano, A., Real de Asúa, D., Rodrigo, S., Rodríguez-Rodríguez, E., Royo, J.L., A, Ruiz, Sanchez del Valle Díaz, R., Sánchez-Juan, P., Sastre, I., Vicente, M.P., Vivancos, L., Moreno-Grau, Sonia, de Rojas, Itziar, Hernández, Isabel, Quintela, Inés, Montrreal, Laura, Alegret, Montserrat, Hernández-Olasagarre, Begoña, Madrid, Laura, González-Perez, Antonio, Maroñas, Olalla, Rosende-Roca, Maitée, Mauleón, Ana, Vargas, Liliana, Lafuente, Asunción, Abdelnour, Carla, Rodríguez-Gómez, Octavio, Gil, Silvia, Santos-Santos, Miguel Ángel, Espinosa, Ana, Ortega, Gemma, Sanabria, Ángela, Pérez-Cordón, Alba, Cañabate, Pilar, Moreno, Mariola, Preckler, Silvia, Ruiz, Susana, Aguilera, Nuria, Pineda, Juan Antonio, Macías, Juan, Alarcón-Martín, Emilio, Sotolongo-Grau, Oscar, Marquié, Marta, Monté-Rubio, Gemma, Valero, Sergi, Benaque, Alba, Clarimón, Jordi, Bullido, Maria Jesus, García-Ribas, Guillermo, Pástor, Pau, Sánchez-Juan, Pascual, Álvarez, Victoria, Piñol-Ripoll, Gerard, García-Alberca, Jose Maria, Royo, José Luis, Franco, Emilio, Mir, Pablo, Calero, Miguel, Medina, Miguel, Rábano, Alberto, Ávila, Jesús, Antúnez, Carmen, Real, Luis Miguel, Orellana, Adelina, Carracedo, Ángel, Sáez, María Eugenia, Tárraga, Lluís, Boada, Mercè, and Ruiz, Agustín

Published
2019
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14. Poor increase on HAV vaccination coverage among people living with HIV after an immunization-based intervention

Author

Real, Luis Miguel [0000-0003-4932-7429], Macías Sánchez, Juan [0000-0002-4778-790X], Pineda, Juan A. [0000-0002-3751-0296], Corma-Gómez, Anaïs, Real, Luis Miguel, Fernández-Fuertes, Marta, González-Serna, Alejandro, Oliver, Noemi, Ortega, Jesús, Rincón, Pilar, Rodríguez-Pineda, Elena, Santos, Marta, Trigo-Rodríguez, Marta, Macías Sánchez, Juan, Pineda, Juan A., Real, Luis Miguel [0000-0003-4932-7429], Macías Sánchez, Juan [0000-0002-4778-790X], Pineda, Juan A. [0000-0002-3751-0296], Corma-Gómez, Anaïs, Real, Luis Miguel, Fernández-Fuertes, Marta, González-Serna, Alejandro, Oliver, Noemi, Ortega, Jesús, Rincón, Pilar, Rodríguez-Pineda, Elena, Santos, Marta, Trigo-Rodríguez, Marta, Macías Sánchez, Juan, and Pineda, Juan A.

Abstract

[EN] Objectives: To assess HAV serologic and vaccination status among people who live with HIV (PLWH), and to evaluate the impact of a vaccination-based strategy on HAV-negative patients in Seville, Spain. Methods: Study with two time-overlapping phases: (i) cross-sectional study of HAV immunity prevalence among PLWH followed at a Spanish hospital between August 2019 and March 2020. (ii) Patients seronegative for HAV, reliably unvaccinated were included in a before-and-after quasi-experimental study, with an intervention focused on HAV vaccination according to national recommendations in force. Results: Six hundred and fifty-six patients were included, of which 111 [17%, 95% confidence interval (95% CI) 14–20%] were seronegative for HAV. Of these, 48 [43% (95% CI, 34–53%)] individuals were MSM. The absence of HAV immunity was attributed in 69 [62% (95% CI, 52–71%)] patients to non-referral to vaccination, followed by lack of achievement of a correct vaccination scheme [n = 26; 23% (95% CI, 16–32%)]. After the program implementation, 96 [15% (95% CI, 12–18%)] individuals were seronegative (17% vs. 15%, p = 0.256), of whom 42 [41% (95% CI, 32–51%)] were MSM. The absence of immunity after the intervention was mainly attributed to: adherence failure in 23 [24.0% (95% CI, 15.8–33.7%)] patients, on-course immunization scheme in 34 [33% (95% CI, 24–43%)] individuals and pending appointment at the vaccine delivery unit in 20 [20.8% (95% CI, 13.2–30.3%)] patients. Conclusions: A sizeable proportion of PLWH remains susceptible for HAV infection in future outbreaks. A program based on referral to the vaccine delivery unit yields poor results, largely due to program adherence failures. New strategies are needed to increase HAV vaccination coverage., [ES] Objetivos: Evaluar la prevalencia de inmunidad frente al VHA en personas que viven con VIH así como el impacto de una intervención basada en la vacunación de pacientes seronegativos frente al VHA. Métodos: Estudio con dos fases solapadas en el tiempo: 1) transversal de prevalencia de inmunidad frente al VHA en personas que viven con VIH seguidas en un hospital de tercer nivel, entre agosto de 2019 y el inicio de las medidas nacionales de contención de la epidemia por SARS-CoV-2, marzo de 2020. 2) Cuasiexperimental, con una intervención centrada en la vacunación frente a VHA de pacientes seronegativos, en la unidad responsable de esta. Resultados: Ciento once (17%, [95% IC, 14-20%]) de los 656 pacientes incluidos eran seronegativos frente al VHA. Las principales causas de la ausencia de inmunidad fueron: 69 (62% [95% IC, 52-71%]) individuos no derivados a la unidad responsable de la vacunación; 26 pacientes (23% [95% CI, 16-32%]) no completaron el esquema vacunal. Tras la intervención, 96 (15% [95% IC, 12-18%]) pacientes continuaron siendo seronegativos frente al VHA (comparada con la prevalencia basal, p = 0,256), 42 (18% [95% IC, 13-23%]) eran HSH. Las principales causas de la ausencia de inmunidad fueron: 26 (23% [95% IC, 15-32%]) individuos presentaron fallos de adherencia al circuito vacunal; 34 (33% [95% IC, 24-43%]) pacientes habían recibido una sola dosis; 22 (22% [95% IC, 14-31%]) seguían sin una primera valoración por parte de la unidad responsable de la vacunación. Conclusiones: Una proporción considerable de personas que viven con VIH, particularmente HSH, sigue siendo susceptible a la infección por VHA. La derivación sistemática a la unidad responsable de la vacunación se traduce en modestos incrementos de la prevalencia de inmunidad. Son necesarias nuevas estrategias para aumentar la cobertura vacunal.

Published
2023

15. Kinetics of emergence of liver complications in hepatitis C virus infected patients and advanced fibrosis, with and without HIV-coinfection, after sustained virological response

Author

Corma-Gómez, Anaïs, Macías, Juan, Téllez, Francisco, Morano, Luis, Rivero, Antonio, Serrano, Miriam, Ríos, María José, Vera-Méndez, Francisco Jesús, Santos, Marta, Real, Luis Miguel, Palacios, Rosario, Santos, Ignacio de Los, Geijo, Paloma, Imaz, Arkaitz, Merino, Dolores, Galindo, Maria José, Reus-Bañuls, Sergio, López-Ruz, Miguel Ángel, Galera, Carlos, and Pineda, Juan A.

Published
2021
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16. Hepatic Steatosis and Weight Gain During the Coronavirus Disease 2019 Pandemic Among People With Human Immunodeficiency Virus: Impact of Therapy With Tenofovir Alafenamide

Author

Santos, Marta, primary, Corma-Gómez, Anais, additional, Martin-Carmona, Jesica, additional, Pérez-García, Margarita, additional, Martín-Sierra, Carmen, additional, Rincón-Mayo, Pilar, additional, González-Serna, Alejandro, additional, Pineda, Juan Antonio, additional, Real, Luis Miguel, additional, and Macías, Juan, additional

Published
2023
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19. Response to glecaprevir/pibrentasvir in HIV/HCV-coinfected patients in clinical practice

Author

Gonzalez-Serna, Alejandro, primary, Corma-Gomez, Anaïs, additional, Tellez, Francisco, additional, Corona-Mata, Diana, additional, Rios-Villegas, María Jose, additional, Merino, Dolores, additional, Galera, Carlos, additional, Collado-Romacho, Antonio Ramon, additional, De Los Santos, Ignacio, additional, Cucurull, Josep, additional, Santos, Marta, additional, García-Martín, Sofía, additional, Rivero, Antonio, additional, Real, Luis Miguel, additional, and Macias, Juan, additional

Published
2023
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20. Expanding HIV clinical monitoring: the role of CD4, CD8, and CD4/CD8 ratio in predicting non-AIDS events

Author

Martínez-Sanz, Javier, primary, Díaz-Álvarez, Jorge, additional, Rosas Cancio-Suarez, Marta, additional, Ron, Raquel, additional, Iribarren, José Antonio, additional, Bernal, Enrique, additional, Gutiérrez, Félix, additional, Ruiz Sancho, Andrés, additional, Cabello, Noemi, additional, Olalla, Julián, additional, Moreno, Santiago, additional, Serrano-Villar, Sergio, additional, Jarrín, Inma, additional, Dalmau, David, additional, Navarro, M. Luisa, additional, González, M. Isabel, additional, Garcia, Federico, additional, Poveda, Eva, additional, Iribarren, Jose Antonio, additional, Rubio, Rafael, additional, Vidal, Francesc, additional, Berenguer, Juan, additional, González, Juan, additional, Muñoz-Fernández, M. Ángeles, additional, Jarrín, Inmaculada, additional, Moreno, Cristina, additional, Rava, Marta, additional, Izquierdo, Rebeca, additional, Mauleón, Elba, additional, Portilla, Joaquín, additional, Portilla, Irene, additional, Merino, Esperanza, additional, García, Gema, additional, Agea, Iván, additional, Sánchez-Payá, José, additional, Rodríguez, Juan Carlos, additional, Giner, Livia, additional, Reus, Sergio, additional, Boix, Vicente, additional, Torrus, Diego, additional, Pérez, Verónica, additional, Portilla, Julia, additional, Gómez, Juan Luís, additional, Hernández, Jehovana, additional, Lirola, Ana López, additional, García, Dácil, additional, Díaz-Flores, Felicitas, additional, Alonso, M. Mar, additional, Pelazas, Ricardo, additional, Alemán, M. Remedios, additional, Asensi, Víctor, additional, Rivas Carmenado, María Eugenia, additional, Suarez-Zarracina, Tomás, additional, Pulido, Federico, additional, Bisbal, Otilia, additional, Hernando, M. Asunción, additional, Rial, David, additional, de Lagarde, María, additional, Arce, Octavio, additional, Pinto, Adriana, additional, Bermejo, Laura, additional, Santacreu, Mireia, additional, Navarro, Roser, additional, Gonzalez, Candela, additional, Aramburu, M. José, additional, Camino, Xabier, additional, Ángel von Wichmann, Miguel, additional, Goenaga, Miguel Ángel, additional, Bustinduy, M. Jesús, additional, Azkune, Harkaitz, additional, Ibarguren, Maialen, additional, Kortajarena, Xabier, additional, Álvarez-Rodriguez, Ignacio, additional, Gil, Leire, additional, Martínez, Lourdes, additional, Robledano, Catalina, additional, Masiá, Mar, additional, Padilla, Sergio, additional, Adsuar, Araceli, additional, Pascual, Rafael, additional, Fernández, Marta, additional, Galiana, Antonio, additional, García, José Alberto, additional, Barber, Xavier, additional, Agullo, Vanessa, additional, Abellán, Javier Garcia, additional, Pascual, Reyes, additional, Telenti, Guillermo, additional, Guillén, Lucia, additional, Botella, Ángela, additional, Muga, Roberto, additional, Sanvisens, Arantza, additional, Fuster, Daniel, additional, Gutierrez, Isabel, additional, López, Juan Carlos, additional, Ramírez, Margarita, additional, Padilla, Belén, additional, Gijón, Paloma, additional, Aldamiz-Echevarría, Teresa, additional, Tejerina, Francisco, additional, Diez, Cristina, additional, Pérez, Leire, additional, Fanciulli, Chiara, additional, Corral, Saray, additional, Martí, Anna, additional, Peraire, Joaquín, additional, Viladés, Consuelo, additional, Vargas, Montserrat, additional, Olona, Montserrat, additional, Rull, Anna, additional, Alba, Verónica, additional, Yeregui, Elena, additional, Masip, Jenifer, additional, García-Pardo, Graciano, additional, Bertomeu, Frederic Gómez, additional, Espineira, Sonia, additional, Montero, Marta, additional, Cuéllar, Sandra, additional, Blanes, Marino, additional, Tasias, María, additional, Calabuig, Eva, additional, Salavert, Miguel, additional, Fernández, Juan, additional, Segarra, Inmaculada, additional, González-García, Juan, additional, Delgado, Ana, additional, Arnalich, Francisco, additional, Arribas, José Ramón, additional, Bernardino, Jose Ignacio, additional, Castro, Juan Miguel, additional, Escosa, Luis, additional, Herranz, Pedro, additional, Hontañón, Victor, additional, García-Bujalance, Silvia, additional, García, Milagros, additional, González-Baeza, Alicia, additional, Martín-Carbonero, M. Luz, additional, Mayoral, Mario, additional, Mellado, M. Jose, additional, Esteban, Rafael, additional, Montejano, Rocío, additional, Montes, M. Luisa, additional, Moreno, Victoria, additional, Pérez-Valero, Ignacio, additional, Rodés, Berta, additional, Rúa, Guadalupe, additional, Sainz, Talía, additional, Sendagorta, Elena, additional, Valencia, Eulalia, additional, Busca, Carmen, additional, Cano, Joanna, additional, Cardiñanos, Julen, additional, de Miguel, Rosa, additional, Blanco, Jose Ramón, additional, Pérez-Martínez, Laura, additional, Oteo, José Antonio, additional, Ibarra, Valvanera, additional, Metola, Luis, additional, Sanz, Mercedes, additional, Arazo, Piedad, additional, Sampériz, Gloria, additional, Martinez, Marina, additional, Jaén, Angels, additional, Sanmartí, Montse, additional, Cairó, Mireia, additional, Martinez-Lacasa, Javier, additional, Velli, Pablo, additional, Font, Roser, additional, Xercavins, Mariona, additional, Alonso, Noemí, additional, Aiello, Francesco, additional, Rivero, María, additional, Piérola, Beatriz, additional, Goikoetxea, Maider, additional, Gracia, María, additional, Ibero, Carlos, additional, Moreno, Estela, additional, Repáraz, Jesús, additional, Navarro, Gemma, additional, Garcia, Manel Cervantes, additional, Isbert, Sonia Calzado, additional, Vilasaro, Marta Navarro, additional, Garcia, Belen Lopez, additional, Santos, Ignacio de los, additional, Santos, Alejandro de los, additional, Sanz, Jesús, additional, García-Fraile, Lucio, additional, Martín, Enrique, additional, Sánchez-Cerrillo, Ildefonso, additional, Calvet, Marta, additional, Barrios, Ana, additional, Bautista, Azucena, additional, Sáez, Carmen, additional, Ciudad, Marianela, additional, Gutiérrez, Ángela, additional, Campo, Santos del, additional, Casado, José Luis, additional, Dronda, Fernando, additional, Moreno, Ana, additional, Pérez, M. Jesús, additional, Serrano, Sergio, additional, Vivancos, Ma Jesús, additional, Martínez-Sanz, Javier, additional, Vallejo, Alejandro, additional, Sanchez, Matilde, additional, Pérez-Molina, Jose Antonio, additional, Hermida, José Manuel, additional, Alcaraz, Antonia, additional, Bravo, Joaquín, additional, Muñoz, Ángeles, additional, Tomás, Cristina, additional, Martínez, Mónica, additional, Villalba, M. Carmen, additional, García, Federico, additional, Martínez, Clara, additional, Hernández, José, additional, Medina, Leopoldo Muñoz, additional, Álvarez, Marta, additional, Chueca, Natalia, additional, Vinuesa, David, additional, de Salazar, Adolfo, additional, Fuentes, Ana, additional, Guirao, Emilio, additional, Viñuela, Laura, additional, Ruiz-Sancho, Andrés, additional, Anguita, Francisco, additional, Del Romero, Jorge, additional, Raposo, Montserrat, additional, Rodríguez, Carmen, additional, Puerta, Teresa, additional, Carrió, Juan Carlos, additional, Vera, Mar, additional, Ballesteros, Juan, additional, Ayerdi, Oskar, additional, Baza, Begoña, additional, Orviz, Eva, additional, Antela, Antonio, additional, Losada, Elena, additional, Riera, Melchor, additional, Peñaranda, María, additional, Ribas, M. Angels, additional, Campins, Antoni A., additional, Garcia-Gazalla, Mercedes, additional, Fanjul, Francisco J., additional, Murillas, Javier, additional, Homar, Francisco, additional, Vilchez, Helem H., additional, Martin, Luisa, additional, Payeras, Antoni, additional, Santos, Jesús, additional, López, María, additional, Gómez, Crisitina, additional, Viciana, Isabel, additional, Palacios, Rosario, additional, López-Cortés, Luis Fernando, additional, Espinosa, Nuria, additional, Roca, Cristina, additional, Llaves, Silvia, additional, Tiraboschi, Juan Manuel, additional, Imaz, Arkaitz, additional, Silva, Ana Karina, additional, Saumoy, María, additional, Scévola, Sofía Catalina, additional, Curran, Adrián, additional, Falcó, Vicenç, additional, Navarro, Jordi, additional, Burgos, Joaquin, additional, Suanzes, Paula, additional, García, Jorge, additional, Descalzo, Vicente, additional, Álvarez, Patricia, additional, Planas, Bibiana, additional, Sanchiz, Marta, additional, Rodríguez, Lucía, additional, Sánchez, M José, additional, Pérez, Javier, additional, Arco, Alfonso del, additional, Torre, Javier de la, additional, Prada, José Luis, additional, Martínez, Onofre Juan, additional, Martinez, Lorena, additional, Vera, Francisco Jesús, additional, García, Josefina, additional, Alcaraz, Begoña, additional, Sánchez Guirao, Antonio Jesús, additional, Mena, Alvaro, additional, Castro, Angeles, additional, Pernas, Berta, additional, Vázquez, Pilar, additional, López, Soledad, additional, Ibarra, Sofía, additional, García, Guillermo, additional, Mirena, Josu, additional, Ferrero, Oscar Luis, additional, López, Josefina, additional, Cámara, M. Mar, additional, Peña, Mireia de la, additional, Lopez, Miriam, additional, Lopez, Iñigo, additional, Lombide, Itxaso, additional, Polo, Victor, additional, de Miguel, Joana, additional, Galera, Carlos, additional, Fernández, Marian, additional, Albendin, Helena, additional, Castillo, Antonia, additional, Iborra, Asunción, additional, Moreno, Antonio, additional, Merlos, M. Angustias, additional, Vidal, Asunción, additional, Amador, Concha, additional, Pasquau, Francisco, additional, Gil, Concepcion, additional, Algado, Jose Tomás, additional, Suarez-García, Inés, additional, Malmierca, Eduardo, additional, González-Ruano, Patricia, additional, Ruiz, M. Pilar, additional, Pascual, José Francisco, additional, Sáez, Elena, additional, Balsalobre, Luz, additional, López, M. Villa, additional, Omar, Mohamed, additional, Herrero, Carmen, additional, Gómez, M. Amparo, additional, Alberto de Zarraga, Miguel, additional, Pérez, Desiré, additional, Estrada, Vicente, additional, Sanz, Nieves, additional, Cabello, Noemí, additional, García, Jorge Vergas, additional, Núñez, Maria Jose, additional, Sagastagoitia, Iñigo, additional, Górgolas, Miguel, additional, Cabello, Alfonso, additional, Álvarez, Beatriz, additional, Prieto, Laura, additional, Carrillo, Irene, additional, Sanz, José, additional, Arranz, Alberto, additional, Hernández, Cristina, additional, Novella, María, additional, Galindo, M. José, additional, Ferrer, Ana, additional, Román, Antonio Rivero, additional, Ruíz, Inma, additional, Juárez, Antonio Rivero, additional, López, Pedro, additional, Machuca, Isabel, additional, Frias, Mario, additional, Camacho, Ángela, additional, Pérez, Ignacio, additional, Corona, Diana, additional, Cervero, Miguel, additional, Torres, Rafael, additional, Pineda, Juan Antonio, additional, Rincón, Pilar, additional, Macías, Juan, additional, Real, Luis Miguel, additional, Corma, Anais, additional, Gonzalez-Serna, Alejandro, additional, Pérez, Alexandre, additional, Morano, Luis, additional, Miralles, Celia, additional, Ocampo, Antonio, additional, Pousada, Guillermo, additional, Patiño, Lucía, additional, Dueñas, Carlos, additional, Gutiérrez, Sara, additional, Tapia, Elena, additional, Novoa, Cristina, additional, Egües, Xjoylin, additional, and Telleria, Pablo, additional

Published
2023
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21. A Functional Pipeline of Genome-Wide Association Data Leads to Midostaurin as a Repurposed Drug for Alzheimer’s Disease

Author

Esteban-Martos, Alvaro, primary, Brokate-Llanos, Ana Maria, additional, Real, Luis Miguel, additional, Melgar-Locatelli, Sonia, additional, de Rojas, Itziar, additional, Castro-Zavala, Adriana, additional, Bravo, Maria Jose, additional, Mañas-Padilla, Maria del Carmen, additional, García-González, Pablo, additional, Ruiz-Galdon, Maximiliano, additional, Pacheco-Sánchez, Beatriz, additional, Polvillo, Rocío, additional, Rodriguez de Fonseca, Fernando, additional, González, Irene, additional, Castilla-Ortega, Estela, additional, Muñoz, Manuel J., additional, Rivera, Patricia, additional, Reyes-Engel, Armando, additional, Ruiz, Agustin, additional, and Royo, Jose Luis, additional

Published
2023
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23. High efficacy of glecaprevir/pibrentasvir for HCV-infected individuals with active drug use

Author

Instituto de Salud Carlos III, European Commission, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Junta de Andalucía, Real, Luis Miguel [0000-0003-4932-7429], Rivero-Juárez, Antonio [0000-0002-5813-6889], González, Alejandro, Macías, Juan, Corma-Gómez, Anaïs, Téllez, Francisco, Cucurull, Josep, Real, Luis Miguel, Granados, Rafael, Rivero-Juárez, Antonio, Hernandez-Quero, José, Merino, Dolores, Palacios, Rosario, Ríos-Villegas, María José, Collado, Antonio, Pineda, Juan A., Instituto de Salud Carlos III, European Commission, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Junta de Andalucía, Real, Luis Miguel [0000-0003-4932-7429], Rivero-Juárez, Antonio [0000-0002-5813-6889], González, Alejandro, Macías, Juan, Corma-Gómez, Anaïs, Téllez, Francisco, Cucurull, Josep, Real, Luis Miguel, Granados, Rafael, Rivero-Juárez, Antonio, Hernandez-Quero, José, Merino, Dolores, Palacios, Rosario, Ríos-Villegas, María José, Collado, Antonio, and Pineda, Juan A.

Abstract

[Objectives] Real world data on glecaprevir/pibrentasvir (G/P) among active drug users are scarce. We evaluated the sustained virological response (SVR) rates of G/P among individuals with and without active drug use in routine clinical practice., [Methods] Two ongoing prospective multicenter cohorts of individuals starting G/P were analyzed. Overall SVR intention-to-treat (ITT), discontinuations due to adverse effects and dropouts were evaluated. Results in patients with active, past and without active drug use were compared., [Results] Overall, 644 individuals started G/P and have reached the date of SVR evaluation. Of them, 613 (95.2%) individuals achieved SVR. There were two (0.3%) relapses, one (0.2%) discontinuation due to side effects and 35 (5.4%) dropouts. SVR rates for patients with active drug use, past drug use and those who never used drugs were 85.4%(n/N = 70/82), 96.1%(n/N = 320/333) and 97.4%(n/N = 223/229) respectively (p < 0.001). After adjustment by sex, age, HCV genotype and opioid agonist therapy, active drug use was the only factor independently associated with SVR (ITT) [adjusted OR (95%confidence interval): 0.29(0.09–0.99),p = 0.048]., [Conclusions] Active drug use was independently associated with lower SVR rates to G/P, mainly due to voluntary dropout. G/P could be particularly beneficial in this scenario but specific strategies designed to increase the retention in care are needed.

Published
2022

25. A metagenome-wide association study of HIV disease progression in HIV controllers

Author

Universidad de Sevilla. Departamento de Bioquímica y Biología Molecular, Universidad de Sevilla. Departamento de Bioquímica Médica y Biología Molecular e Inmunología, Universidad de Sevilla. Departamento de Fisiología, Junta de Andalucía, European Union (UE), European Commission (EC). Fondo Europeo de Desarrollo Regional (FEDER), Instituto de Salud Carlos III, Agencia Estatal de Investigación. España, Real, Luis Miguel, Sáez, María E., Corma Gómez, Anaïs, González Pérez, Antonio, Thorball, Christian, Ruiz Laza, Rocío, Jiménez León, María Reyes, González-Serna Martín, Manuel Alejandro, Bachiller, Sara, Ruiz Mateos, Ezequiel, Universidad de Sevilla. Departamento de Bioquímica y Biología Molecular, Universidad de Sevilla. Departamento de Bioquímica Médica y Biología Molecular e Inmunología, Universidad de Sevilla. Departamento de Fisiología, Junta de Andalucía, European Union (UE), European Commission (EC). Fondo Europeo de Desarrollo Regional (FEDER), Instituto de Salud Carlos III, Agencia Estatal de Investigación. España, Real, Luis Miguel, Sáez, María E., Corma Gómez, Anaïs, González Pérez, Antonio, Thorball, Christian, Ruiz Laza, Rocío, Jiménez León, María Reyes, González-Serna Martín, Manuel Alejandro, Bachiller, Sara, and Ruiz Mateos, Ezequiel

Abstract

Some HIV controllers experience immunologic progression with CD4+ T cell decline. We aimed to identify genetic factors associated with CD4+ T cell lost in HIV controllers. A total of 561 HIV controllers were included, 442 and 119 from the International HIV controllers Study Cohort and the Swiss HIV Cohort Study, respectively. No SNP or gene was associated with the long-term non-progressor HIV spontaneous control phenotype in the individual GWAS or in the meta-analysis. However, SNPs previously associated with natural HIV control linked to HLA-B (rs2395029 [p = 0.005; OR = 1.70], rs59440261 [p = 0.003; OR = 1.78]), MICA (rs112243036 [p = 0.011; OR = 1.45]), and PSORS1C1 loci (rs3815087 [p = 0.017; OR = 1.39]) showed nominal association with this phenotype. Genetic factors associated with the long-term HIV controllers without risk of immunologic progression are those previously related to the overall HIV controller phenotype.

Published
2023

26. Burden of significant liver damage in people living with HIV after microelimination of the hepatitis C virus

Author

Red Española de Investigación en SIDA, European Commission, Instituto de Salud Carlos III, Junta de Andalucía, Santos, Marta, Corma-Gómez, Anaïs, Fernández-Fuertes, Marta, González-Serna, A., Rincón, Pilar, Real, Luis Miguel, Pineda, Juan A., Macías Sánchez, Juan, Red Española de Investigación en SIDA, European Commission, Instituto de Salud Carlos III, Junta de Andalucía, Santos, Marta, Corma-Gómez, Anaïs, Fernández-Fuertes, Marta, González-Serna, A., Rincón, Pilar, Real, Luis Miguel, Pineda, Juan A., and Macías Sánchez, Juan

Abstract

[Background] Once HIV/HCV-coinfection microelimination has been virtually achieved in some countries, there is no information about the burden of liver disease among people living with HIV (PLWH). The aim of this study was to define the current prevalence and causes of significant liver damage (SLD) in PLWH., [Methods] Cross-sectional study including 619 PLWH. SLD was defined as liver stiffness (LS) ≥ 7.2 kPa measured by transient elastography. Nonviral liver damage (NVLD) was considered if there was no evidence injury due to chronic hepatitis C virus (HCV) infection, active hepatitis B (HBV) or E virus infections., [Results] One hundred and twelve of 619 (18.2%) PLWH showed SLD, including 34/112 (5.5%) with LS ≥14 kPa. 72/112 (64.3%) had cured HCV infection, 4/112 (3.6%) active HBV infection, and 2/112 HBV/prior HCV coinfection. Thus, 40 (35.7%) showed NVLD. Metabolic associated steatohepatitis (MASH) was present in 29/40 (72.5%) of patients with NVLD, alcoholic liver damage in 2/40 (2.5%) and mixed steatohepatitis in 5/40 (12.5%)., [Conclusions] After HIV/HCV microelimination the burden of liver damage is high among PLWH. Persistent injury after HCV is a very frequent cause of SLD. However, NVLD, mainly due to MASH, is also a common condition in this population.

Published
2023

27. Genetic Associations Between Modifiable Risk Factors and Alzheimer Disease

Author

European Research Council, Instituto de Salud Carlos III, Pérez-Tur, Jordi [0000-0002-9111-1712], European Alzheimer’s & Dementia Biobank Mendelian Randomization (EADB-MR), Luo, Jiao, Thomassen, Jesper Qvist, Bellenguez, Celine, Grenier-Boley, Benjamin, Rojas, Itziar de, Castillo, Atahualpa, Parveen, Kayenat, Kucukali, Fahri, Nicolas, Aude, Peters, Oliver, Schneider, Anja, Dichgans, Martin, Rujescu, Dan, Scherbaum, Norbert, Jurgen, Deckert, Riedel-Heller, Steffi, Hausner, Lucrezia, Molina Porcel, Laura, Duzel, Emrah, Grimmer, Timo, Wiltfang, Jens, Heilmann-Heimbach, Stefanie, Moebus, Susanne, Tegos, Thomas, Scarmeas, Nikolaos, Clarimón, Jordi, Moreno, Fermín, Pérez-Tur, Jordi, Bullido, Maria J., Pastor, Pau, Sánchez-Valle, Raquel, Álvarez, Victoria, Boada, Mercè, García-González, Pablo, Puerta, Raquel, Mir, Pablo, Real, Luis Miguel, Piñol-Ripoll, Gerard, García-Alberca, José María, Royo, José Luis, Rodríguez-Rodríguez, Eloy, Soininen, Hilkka, Kuulasmaa, Teemu, Mendonça, Alexandre de, Mehrabian, Shima, Hort, Jakub, Vyhnalek, Martin, van der Lee, Sven, Graff, Caroline, Papenberg, Goran, Giedraitis, Vilmantas, Boland, Anne, Bacq-Daian, Delphine, Deleuze, Jean-Francois, Nicolas, Gael, Dufouil, Carole, Pasquier, Florence, Hanon, Olivier, Debette, Stephanie, Grunblatt, Edna, Popp, Julius, Benussi, Luisa, Galimberti, Daniela, Arosio, Beatrice, Mecocci, Patrizia, Solfrizzi, Vincenzo, Parnetti, Lucilla, Squassina, Alessio, Tremolizzo, Lucio, Borroni, Barbara, Nacmias, Benedetta, Sorbi, Sandro, Caffarra, Paolo, Seripa, Davide, Rainero, Innocenzo, Daniele, Antonio, Masullo, Carlo, Spalletta, Gianfranco, Williams, Julie, Amouyel, Philippe, Jessen, Frank, Kehoe, Patrick, Magda, Tsolaki, Rossi, Giacomina, Sánchez-Juan, Pascual, Sleegers, Kristel, Ingelsson, Martin, Andreassen, Ole A., Hiltunen, Mikko, Van Duijn, Cornelia, Sims, Rebecca, van der Flier, Wiesje, Ruiz, Agustín, Ramírez, Alfredo, Lambert, Jean-Charles, Frikke-Schmidt, Ruth, European Research Council, Instituto de Salud Carlos III, Pérez-Tur, Jordi [0000-0002-9111-1712], European Alzheimer’s & Dementia Biobank Mendelian Randomization (EADB-MR), Luo, Jiao, Thomassen, Jesper Qvist, Bellenguez, Celine, Grenier-Boley, Benjamin, Rojas, Itziar de, Castillo, Atahualpa, Parveen, Kayenat, Kucukali, Fahri, Nicolas, Aude, Peters, Oliver, Schneider, Anja, Dichgans, Martin, Rujescu, Dan, Scherbaum, Norbert, Jurgen, Deckert, Riedel-Heller, Steffi, Hausner, Lucrezia, Molina Porcel, Laura, Duzel, Emrah, Grimmer, Timo, Wiltfang, Jens, Heilmann-Heimbach, Stefanie, Moebus, Susanne, Tegos, Thomas, Scarmeas, Nikolaos, Clarimón, Jordi, Moreno, Fermín, Pérez-Tur, Jordi, Bullido, Maria J., Pastor, Pau, Sánchez-Valle, Raquel, Álvarez, Victoria, Boada, Mercè, García-González, Pablo, Puerta, Raquel, Mir, Pablo, Real, Luis Miguel, Piñol-Ripoll, Gerard, García-Alberca, José María, Royo, José Luis, Rodríguez-Rodríguez, Eloy, Soininen, Hilkka, Kuulasmaa, Teemu, Mendonça, Alexandre de, Mehrabian, Shima, Hort, Jakub, Vyhnalek, Martin, van der Lee, Sven, Graff, Caroline, Papenberg, Goran, Giedraitis, Vilmantas, Boland, Anne, Bacq-Daian, Delphine, Deleuze, Jean-Francois, Nicolas, Gael, Dufouil, Carole, Pasquier, Florence, Hanon, Olivier, Debette, Stephanie, Grunblatt, Edna, Popp, Julius, Benussi, Luisa, Galimberti, Daniela, Arosio, Beatrice, Mecocci, Patrizia, Solfrizzi, Vincenzo, Parnetti, Lucilla, Squassina, Alessio, Tremolizzo, Lucio, Borroni, Barbara, Nacmias, Benedetta, Sorbi, Sandro, Caffarra, Paolo, Seripa, Davide, Rainero, Innocenzo, Daniele, Antonio, Masullo, Carlo, Spalletta, Gianfranco, Williams, Julie, Amouyel, Philippe, Jessen, Frank, Kehoe, Patrick, Magda, Tsolaki, Rossi, Giacomina, Sánchez-Juan, Pascual, Sleegers, Kristel, Ingelsson, Martin, Andreassen, Ole A., Hiltunen, Mikko, Van Duijn, Cornelia, Sims, Rebecca, van der Flier, Wiesje, Ruiz, Agustín, Ramírez, Alfredo, Lambert, Jean-Charles, and Frikke-Schmidt, Ruth

Abstract

Importance: An estimated 40% of dementia is potentially preventable by modifying 12 risk factors throughout the life course. However, robust evidence for most of these risk factors is lacking. Effective interventions should target risk factors in the causal pathway to dementia. Objective: To comprehensively disentangle potentially causal aspects of modifiable risk factors for Alzheimer disease (AD) to inspire new drug targeting and improved prevention. Design, setting, and participants: This genetic association study was conducted using 2-sample univariable and multivariable mendelian randomization. Independent genetic variants associated with modifiable risk factors were selected as instrumental variables from genomic consortia. Outcome data for AD were obtained from the European Alzheimer & Dementia Biobank (EADB), generated on August 31, 2021. Main analyses were conducted using the EADB clinically diagnosed end point data. All analyses were performed between April 12 and October 27, 2022. Exposures: Genetically determined modifiable risk factors. Main outcomes and measures: Odds ratios (ORs) and 95% CIs for AD were calculated per 1-unit change of genetically determined risk factors. Results: The EADB-diagnosed cohort included 39 106 participants with clinically diagnosed AD and 401 577 control participants without AD. The mean age ranged from 72 to 83 years for participants with AD and 51 to 80 years for control participants. Among participants with AD, 54% to 75% were female, and among control participants, 48% to 60% were female. Genetically determined high-density lipoprotein (HDL) cholesterol concentrations were associated with increased odds of AD (OR per 1-SD increase, 1.10 [95% CI, 1.05-1.16]). Genetically determined high systolic blood pressure was associated with increased risk of AD after adjusting for diastolic blood pressure (OR per 10-mm Hg increase, 1.22 [95% CI, 1.02-1.46]). In a second analysis to minimize bias due to sample overlap, the entire UK

Published
2023

28. Reduced neutralizing antibody response to SARS-CoV-2 vaccine booster dose in people living with HIV with severe immunosuppression

Author

Instituto de Salud Carlos III, European Commission, Junta de Andalucía, Corma-Gómez, Anaïs, Fernández-Fuertes, Marta, Viñuela, Laura, Domínguez, Carmen, Santos, Marta, Fuentes-López, Ana, Rojas, Almudena, Fernández-Pérez, Nieves, Martín-Carmona, Jesica, Serrano-Conde, Esther, Real, Luis Miguel, Mendoza, Joaquín, Macías, Juan, Pineda, Juan A., García, Federico, Instituto de Salud Carlos III, European Commission, Junta de Andalucía, Corma-Gómez, Anaïs, Fernández-Fuertes, Marta, Viñuela, Laura, Domínguez, Carmen, Santos, Marta, Fuentes-López, Ana, Rojas, Almudena, Fernández-Pérez, Nieves, Martín-Carmona, Jesica, Serrano-Conde, Esther, Real, Luis Miguel, Mendoza, Joaquín, Macías, Juan, Pineda, Juan A., and García, Federico

Abstract

The aim of this study was to assess the immunogenicity of severe acute respiratory syndrome coronavirus 2 (SARS‑CoV‑2) vaccines among people living with HIV (PLWH) with severe immunosuppression, after a booster dose. The design was a case–control study nested in a prospective cohort of PLWH. All patients with CD4 cell count <200 cells/mm3 who had received additional dose of messenger RNA (mRNA) COVID-19 vaccine, after a standard immunization scheme were included. Control group: patients age- and sex-matched, with CD4 ≥ 200 cells/mm3, in the ratio of 2:1. Antibody response to a booster dose (anti-S levels 33.8 ≥ BAU/mL) and neutralizing activity against SARS-CoV-2 B.1, B.1.617.2, and Omicron BA.1, BA.2, and BA.5 strains were assessed after the booster shot. Fifty-four PLWH were included, 18 with CD4 counts < 200 cells/mm3. Fifty-one (94%) showed response to a booster dose. Response was less frequent in PLWH with CD4 < 200 cells/mm3 than in those with CD4 counts ≥ 200 cells/mm3 (15 [83%] vs. 36 [100%], p = 0.033). In the multivariate analysis, CD4 counts ≥ 200 cells/mm3 [incidence rate ratio (IRR) = 18.1 (95% confidence interval [CI]: 16.8–19.5), p < 0.001] was associated with a higher probability of showing antibody response. Neutralization activity against SARS-CoV-2 B.1, B.1.617, BA.1, and BA.2 strains was significantly inferior among individuals with CD4 counts < 200 cells/mm3. In conclusion, among PLWH with CD4 counts < 200 cells/mm3, the immune response elicited by mRNA additional vaccine dose is reduced.

Published
2023

29. Response to glecaprevir/pibrentasvir in HIV/HCV-coinfected patients in clinical practice

Author

Instituto de Salud Carlos III, European Commission, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Servicio Andaluz de Salud, Centros de Investigación Biomédica en Red (España), Ministerio de Ciencia e Innovación (España), Fundación para la Investigación en Salud, Gonzalez-Serna, Alejandro, Corma-Gómez, Anaïs, Téllez, Francisco, Corona-Mata, Diana, Ríos-Villegas, María José, Merino, Dolores, Galera, Carlos, Collado-Romacho, Antonio Ramón, Santos, Ignacio de los, Cucurull, Josep, Santos, Marta, García-Martín, Sofía, Rivero, Antonio, Real, Luis Miguel, Macías, Juan, Instituto de Salud Carlos III, European Commission, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Servicio Andaluz de Salud, Centros de Investigación Biomédica en Red (España), Ministerio de Ciencia e Innovación (España), Fundación para la Investigación en Salud, Gonzalez-Serna, Alejandro, Corma-Gómez, Anaïs, Téllez, Francisco, Corona-Mata, Diana, Ríos-Villegas, María José, Merino, Dolores, Galera, Carlos, Collado-Romacho, Antonio Ramón, Santos, Ignacio de los, Cucurull, Josep, Santos, Marta, García-Martín, Sofía, Rivero, Antonio, Real, Luis Miguel, and Macías, Juan

Abstract

[Objectives] HIV infection has been associated with lower rates of sustained viral response (SVR) with direct-acting antivirals (DAAs). There are few data on glecaprevir/pibrentasvir (G/P) in HIV/HCV coinfection outside clinical trials., [Methods] The HEPAVIR-DAA cohort, which recruits HIV/HCV-coinfected patients (NCT02057003) and the GEHEP-MONO cohort (NCT02333292), including HCV-monoinfected individuals, are two concurrent ongoing multicentre cohorts of patients receiving anti-HCV treatment. Patients starting G/P included in those cohorts were analysed. Overall SVR (ITT), discontinuations due to adverse effects, and dropouts were evaluated and compared between both cohorts., [Results] Of the 644 patients who started G/P with evaluable SVR, 132 were HIV/HCV coinfected. Overall SVR rates were 487/512 (95.1%) in HCV-monoinfected patients versus 126/132 (95.5%) in HIV/HCV-coinfected patients (P = 1.000). One patient (0.8%) relapsed, and another (0.8%) discontinued treatment due to side effects. SVR to 8 or 12 weeks of treatment with G/P was similar in HIV/HCV-coinfected versus HCV-monoinfected patients. The main reason for not reaching SVR among HIV/HCV-coinfected patients was premature dropout linked to active drug use., [Conclusions] G/P in HIV/HCV coinfection was highly effective and tolerable in clinical practice. SVR to 8 or 12 weeks of treatment with G/P was similar in HIV/HCV-coinfected compared with HCV-monoinfected patients but active drug use is still a barrier to reach HCV microelimination.

Published
2023

30. Mendelian Randomisation Confirms the Role of Y-Chromosome Loss in Alzheimer’s Disease Aetiopathogenesis in Men

Author

Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (España), Instituto de Salud Carlos III, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Ace Alzheimer Center Barcelona, Grifols, Fundación la Caixa, European Commission, European Alzheimer's Disease DNA BioBank, García-González, Pablo, Rojas, Itziar de, Moreno-Grau, Sonia, Montrreal, Laura, Puerta, Raquel, Alarcón-Martín, Emilio, Quintela, Inés, Orellana, Adela, Andrade, Victor, Martino-Adami, Pamela V., Heilmann-Heimbach, Stefanie, Gómez-Garre, Pilar, Periñán, María Teresa, Álvarez, Ignacio, Díez-Fairen, Mónica, Nuñez-Llaves, Raul, Olivé-Roig, Claudia, García-Ribas, Guillermo, Menéndez-González, Manuel, Martínez, Carmen, Aguilar Barberá, Miquel, Buongiorno, Maria Teresa, Franco-Macías, Emilio, Sáez, María Eugenia, Cano, Amanda, Bullido, María Jesús, Real, Luis Miguel, Rodríguez-Rodríguez, Eloy, Royo, José Luis, Álvarez, Victoria, Pastor, Pau, Piñol-Ripoll, Gerard, Mir, Pablo, Calero, Miguel, Medina-Padilla, Miguel, Sánchez-Juan, Pascual, Carracedo, Ángel, Valero, Sergi, Hernández, Isabel, Tárraga, Lluís, Ramírez, Alfredo, Boada, Mercè, Ruiz, Agustín, Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (España), Instituto de Salud Carlos III, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Ace Alzheimer Center Barcelona, Grifols, Fundación la Caixa, European Commission, European Alzheimer's Disease DNA BioBank, García-González, Pablo, Rojas, Itziar de, Moreno-Grau, Sonia, Montrreal, Laura, Puerta, Raquel, Alarcón-Martín, Emilio, Quintela, Inés, Orellana, Adela, Andrade, Victor, Martino-Adami, Pamela V., Heilmann-Heimbach, Stefanie, Gómez-Garre, Pilar, Periñán, María Teresa, Álvarez, Ignacio, Díez-Fairen, Mónica, Nuñez-Llaves, Raul, Olivé-Roig, Claudia, García-Ribas, Guillermo, Menéndez-González, Manuel, Martínez, Carmen, Aguilar Barberá, Miquel, Buongiorno, Maria Teresa, Franco-Macías, Emilio, Sáez, María Eugenia, Cano, Amanda, Bullido, María Jesús, Real, Luis Miguel, Rodríguez-Rodríguez, Eloy, Royo, José Luis, Álvarez, Victoria, Pastor, Pau, Piñol-Ripoll, Gerard, Mir, Pablo, Calero, Miguel, Medina-Padilla, Miguel, Sánchez-Juan, Pascual, Carracedo, Ángel, Valero, Sergi, Hernández, Isabel, Tárraga, Lluís, Ramírez, Alfredo, Boada, Mercè, and Ruiz, Agustín

Abstract

Mosaic loss of chromosome Y (mLOY) is a common ageing-related somatic event and has been previously associated with Alzheimer’s disease (AD). However, mLOY estimation from genotype microarray data only reflects the mLOY degree of subjects at the moment of DNA sampling. Therefore, mLOY phenotype associations with AD can be severely age-confounded in the context of genome-wide association studies. Here, we applied Mendelian randomisation to construct an age-independent mLOY polygenic risk score (mloy-PRS) using 114 autosomal variants. The mloy-PRS instrument was associated with an 80% increase in mLOY risk per standard deviation unit (p = 4.22 × 10−20) and was orthogonal with age. We found that a higher genetic risk for mLOY was associated with faster progression to AD in men with mild cognitive impairment (hazard ratio (HR) = 1.23, p = 0.01). Importantly, mloy-PRS had no effect on AD conversion or risk in the female group, suggesting that these associations are caused by the inherent loss of the Y chromosome. Additionally, the blood mLOY phenotype in men was associated with increased cerebrospinal fluid levels of total tau and phosphorylated tau181 in subjects with mild cognitive impairment and dementia. Our results strongly suggest that mLOY is involved in AD pathogenesis.

Published
2023

31. Additional file 1 of Immunological and senescence biomarker profiles in patients after spontaneous clearance of hepatitis C virus: gender implications for long-term health risk

Author

Centros de Investigación Biomédica en Red (España), Instituto de Salud Carlos III, Fundación Universidad Alfonso X el Sabio, Ministerio de Ciencia e Innovación (España), Martín-Escolano, Rubén, Vidal-Alcántara, Erick Joan, Crespo, Javier, Ryan, Pablo, Real, Luis Miguel, Lazo-Álvarez, Juan Ignacio, Cabezas González, Joaquín, Macías, Juan, Arias-Loste, María Teresa, Cuevas, Guillermo, Virseda-Berdices, Ana, Briz, Veronica, Resino, Salvador, Jiménez-Sousa, María A., Fernández-Rodríguez, Amanda, Centros de Investigación Biomédica en Red (España), Instituto de Salud Carlos III, Fundación Universidad Alfonso X el Sabio, Ministerio de Ciencia e Innovación (España), Martín-Escolano, Rubén, Vidal-Alcántara, Erick Joan, Crespo, Javier, Ryan, Pablo, Real, Luis Miguel, Lazo-Álvarez, Juan Ignacio, Cabezas González, Joaquín, Macías, Juan, Arias-Loste, María Teresa, Cuevas, Guillermo, Virseda-Berdices, Ana, Briz, Veronica, Resino, Salvador, Jiménez-Sousa, María A., and Fernández-Rodríguez, Amanda

Published
2023

32. Immunological and senescence biomarker profiles in patients after spontaneous clearance of hepatitis C virus: gender implications for long-term health risk

Author

Instituto de Salud Carlos III, Fundación Universidad Alfonso X el Sabio, Ministerio de Ciencia e Innovación (España), Agencia Estatal de Investigación (España), European Commission, Centros de Investigación Biomédica en Red (España), Ministerio de Ciencia, Innovación y Universidades (España), Martín-Escolano, Rubén, Vidal-Alcántara, Erick Joan, Crespo, Javier, Ryan, Pablo, Real, Luis Miguel, Lazo-Álvarez, Juan Ignacio, Cabezas González, Joaquín, Macías, Juan, Arias-Loste, María Teresa, Cuevas, Guillermo, Virseda-Berdices, Ana, Briz, Veronica, Resino, Salvador, Jiménez-Sousa, María A., Fernández-Rodríguez, Amanda, Instituto de Salud Carlos III, Fundación Universidad Alfonso X el Sabio, Ministerio de Ciencia e Innovación (España), Agencia Estatal de Investigación (España), European Commission, Centros de Investigación Biomédica en Red (España), Ministerio de Ciencia, Innovación y Universidades (España), Martín-Escolano, Rubén, Vidal-Alcántara, Erick Joan, Crespo, Javier, Ryan, Pablo, Real, Luis Miguel, Lazo-Álvarez, Juan Ignacio, Cabezas González, Joaquín, Macías, Juan, Arias-Loste, María Teresa, Cuevas, Guillermo, Virseda-Berdices, Ana, Briz, Veronica, Resino, Salvador, Jiménez-Sousa, María A., and Fernández-Rodríguez, Amanda

Abstract

[Background] About 25% of patients with acute hepatitis C virus (HCV) infection show spontaneous clearance within the first six months of infection but may remain at risk of inflammaging, aging, and liver and non-liver disease complications. This study evaluated the differences in the plasma levels of immune checkpoints (ICs) and senescence-associated secretory phenotype (SASP) biomarkers between patients who had spontaneously eliminated HCV infection (SC group) and individuals without evidence of HCV infection (C group)., [Methods] We performed a multicenter retrospective study of 56 individuals: 32 in the SC and 24 in the C groups. ICs and SASP proteins were analyzed using a Luminex 200TM analyzer. The statistical analysis used Generalized Linear Models with gamma distribution (log-link) adjusted by significant variables and sex., [Results] 13 ICs (BTLA, CD137(4-1BB), CD27, CD28, CD80, GITR, HVEM, IDO, LAG-3, PD-1, PD-L1, PD-L2, and TIM-3) and 13 SASP proteins (EGF, Eotaxin, IL-1alpha, IL-1RA, IL-8, IL-13, IL-18, IP-10, SDF-1alpha, HGF, beta-NGF, PLGF-1, and SCF) were significantly higher in SC group after approximately more than two years of HCV clearance. After stratifying by sex, differences remained significant for males, which showed higher levels for 13 ICs and 4 SASP proteins in SC. While only PD-L2 was significantly higher in SC women, and no differences in SASP were found., [Conclusions] Higher plasma levels of different IC and SASP proteins were found in individuals after more than two years of HCV clearance, mainly in men. Alterations in these molecules might be associated with an increased risk of developing liver and non-hepatic diseases.

Published
2023

33. A metagenome-wide association study of HIV disease progression in HIV controllers

Author

Junta de Andalucía, Instituto de Salud Carlos III, European Commission, Consejo Superior de Investigaciones Científicas (España), Real, Luis Miguel, Sáez, María Eugenia, Corma-Gómez, Anaïs, González-Pérez, Antonio, Thorball, Christian, Ruiz, Rocío, Jiménez-León, María Reyes, González-Serna, Alejandro, Gasca-Capote, Carmen, Bravo, María José, Royo, José Luis, Pérez-Gómez, Alberto, Camacho-Sojo, María Inés, Gallego, Isabel, Vitallé, Joana, Bachiller, Sara, Gutiérrez Valencia, Alicia, Vidal, Francisco, Fellay, Jacques, Lichterfeld, Mathias, Ruiz-Mateos, Ezequiel, Swiss HIV Cohort Study, Junta de Andalucía, Instituto de Salud Carlos III, European Commission, Consejo Superior de Investigaciones Científicas (España), Real, Luis Miguel, Sáez, María Eugenia, Corma-Gómez, Anaïs, González-Pérez, Antonio, Thorball, Christian, Ruiz, Rocío, Jiménez-León, María Reyes, González-Serna, Alejandro, Gasca-Capote, Carmen, Bravo, María José, Royo, José Luis, Pérez-Gómez, Alberto, Camacho-Sojo, María Inés, Gallego, Isabel, Vitallé, Joana, Bachiller, Sara, Gutiérrez Valencia, Alicia, Vidal, Francisco, Fellay, Jacques, Lichterfeld, Mathias, Ruiz-Mateos, Ezequiel, and Swiss HIV Cohort Study

Abstract

[Summary] Some HIV controllers experience immunologic progression with CD4+ T cell decline. We aimed to identify genetic factors associated with CD4+ T cell lost in HIV controllers. A total of 561 HIV controllers were included, 442 and 119 from the International HIV controllers Study Cohort and the Swiss HIV Cohort Study, respectively. No SNP or gene was associated with the long-term non-progressor HIV spontaneous control phenotype in the individual GWAS or in the meta-analysis. However, SNPs previously associated with natural HIV control linked to HLA-B (rs2395029 [p = 0.005; OR = 1.70], rs59440261 [p = 0.003; OR = 1.78]), MICA (rs112243036 [p = 0.011; OR = 1.45]), and PSORS1C1 loci (rs3815087 [p = 0.017; OR = 1.39]) showed nominal association with this phenotype. Genetic factors associated with the long-term HIV controllers without risk of immunologic progression are those previously related to the overall HIV controller phenotype.

Published
2023

34. Hepatic Steatosis and Weight Gain During the Coronavirus Disease 2019 Pandemic Among People With Human Immunodeficiency Virus: Impact of Therapy With Tenofovir Alafenamide

Author

Instituto de Salud Carlos III, European Commission, Centros de Investigación Biomédica en Red (España), Ministerio de Ciencia e Innovación (España), Junta de Andalucía, Santos, Marta, Corma-Gómez, Anaïs, Martín-Carmona, Jesica, Pérez-García, Margarita, Martín-Sierra, Carmen, Rincón, Pilar, González-Serna, Alejandro, Pineda, Juan A., Real, Luis Miguel, Macías, Juan, Instituto de Salud Carlos III, European Commission, Centros de Investigación Biomédica en Red (España), Ministerio de Ciencia e Innovación (España), Junta de Andalucía, Santos, Marta, Corma-Gómez, Anaïs, Martín-Carmona, Jesica, Pérez-García, Margarita, Martín-Sierra, Carmen, Rincón, Pilar, González-Serna, Alejandro, Pineda, Juan A., Real, Luis Miguel, and Macías, Juan

Abstract

[Background] Lockdown due to the coronavirus disease 2019 (COVID-19) pandemic led to increases in weight in part of the population. Weight gain leads to hepatic steatosis (HS). Antiretroviral treatment could also influence HS in people with human immunodeficiency virus (PWH). The impact of lockdown on HS in PWH is unknown. The aim of this study was to analyze the changes in HS, as measured by the controlled attenuation parameter (CAP), during the COVID-19 pandemic in PWH., [Methods] This was a cohort study that included PWH who attended a tertiary care center in southern Spain from January 2018 to December 2021. The CAP was evaluated by transient elastography. Only those who had a valid CAP before and after March 2020 were included. HS was defined as CAP ≥248 dB/m., [Results] Six hundred eighty PWH were attended and 488 (71.8%) were included. Two hundred and fourteen (43.9%) had HS at baseline and 239 (49%) at the end of the follow-up (P = .036). The median change in CAP among PWH taking tenofovir alafenamide (TAF) was 8.5 (interquartile range [IQR], −24 to 46.3) dB/m versus −4 (IQR, −35 to 27) dB/m among PWH receiving TAF-free regimens (P = .003). After multivariate analysis, adjusted by sex and age, weight gain (adjusted odds ratio [AOR], 1.09 [95% confidence interval {CI}, 1.05–1.14]; P < .001), TAF therapy (AOR, 1.59 [95% CI, 1.07–2.35]; P = .021), plasma triglycerides (AOR, 1.01 [95% CI, 1–1.01]; P < .001), and fasting blood glucose (AOR, 1.01 [95% CI, 1–1.02]; P = .027) were associated with HS at the end of follow-up., [Conclusions] The frequency of HS increased during the COVID-19 pandemic among PWH. TAF is associated with HS development, regardless of metabolic factors.

Published
2023

35. Hepatic Steatosis and Weight Gain During the Coronavirus Disease 2019 Pandemic Among People With Human Immunodeficiency Virus: Impact of Therapy With Tenofovir Alafenamide

Author

Universidad de Sevilla. Departamento de Fisiología, Instituto de Salud Carlos III, Fondos Europeos FEDER, Santos, Marta, Corma Gómez, Anaïs, Martin Carmona, Jesica, Perez Garcia, Margarita, Martin Sierra, Carmen, Rincón Mayo, Pilar, González Serna, Alejandro, Pineda, Juan Antonio, Real, Luis Miguel, Macias, Juan, Universidad de Sevilla. Departamento de Fisiología, Instituto de Salud Carlos III, Fondos Europeos FEDER, Santos, Marta, Corma Gómez, Anaïs, Martin Carmona, Jesica, Perez Garcia, Margarita, Martin Sierra, Carmen, Rincón Mayo, Pilar, González Serna, Alejandro, Pineda, Juan Antonio, Real, Luis Miguel, and Macias, Juan

Abstract

Lockdown due to the coronavirus disease 2019 (COVID-19) pandemic led to increases in weight in part of the population. Weight gain leads to hepatic steatosis (HS). Antiretroviral treatment could also influence HS in people with human immunodeficiency virus (PWH). The impact of lockdown on HS in PWH is unknown. The aim of this study was to analyze the changes in HS, as measured by the controlled attenuation parameter (CAP), during the COVID-19 pandemic in PWH.

Published
2023

36. An Insertion Within SIRPβ1 Shows a Dual Effect Over Alzheimer's Disease Cognitive Decline Altering the Microglial Response.

Author

García-Alberca, José María, de Rojas, Itziar, Sanchez-Mejias, Elisabeth, Garrido-Martín, Diego, Gonzalez-Palma, Laura, Jimenez, Sebastian, Pino-Angeles, Almudena, Cruz-Gamero, Jose Manuel, Mendoza, Silvia, Alarcón-Martín, Emilio, Muñoz-Castro, Clara, Real, Luis Miguel, Tena, Juan Jesus, Polvillo, Rocio, Govantes, Fernando, Lopez, Aroa, Royo-Aguado, Jose Luis, Navarro, Victoria, Gonzalez, Irene, and Ruiz, Maximiliano

Subjects
ALZHEIMER'S disease, MILD cognitive impairment, COGNITION disorders, MICROGLIA, PHAGOCYTIC function tests, WHITE matter (Nerve tissue)
Abstract

Background: Microglial dysfunction plays a causative role in Alzheimer's disease (AD) pathogenesis. Here we focus on a germline insertion/deletion variant mapping SIRPβ1, a surface receptor that triggers amyloid-β(Aβ) phagocytosis via TYROBP. Objective: To analyze the impact of this copy-number variant in SIRPβ1 expression and how it affects AD molecular etiology. Methods: Copy-number variant proxy rs2209313 was evaluated in GERALD and GR@ACE longitudinal series. Hippocampal specimens of genotyped AD patients were also examined. SIRPβ1 isoform-specific phagocytosis assays were performed in HEK393T cells. Results: The insertion alters the SIRPβ1 protein isoform landscape compromising its ability to bind oligomeric Aβ and its affinity for TYROBP. SIRPβ1 Dup/Dup patients with mild cognitive impairment show an increased cerebrospinal fluid t-Tau/Aβ ratio (p = 0.018) and a higher risk to develop AD (OR = 1.678, p = 0.018). MRIs showed that Dup/Dup patients exhibited a worse initial response to AD. At the moment of diagnosis, all patients showed equivalent Mini-Mental State Examination scores. However, AD patients with the duplication had less hippocampal degeneration (p < 0.001) and fewer white matter hyperintensities. In contrast, longitudinal studies indicate that patients bearing the duplication allele show a slower cognitive decline (p = 0.013). Transcriptional analysis also shows that the SIRPβ1 duplication allele correlates with higher TREM2 expression and an increased microglial activation. Conclusions: The SIRPβ1 internal duplication has opposite effects over MCI-to-Dementia conversion risk and AD progression, affecting microglial response to Aβ. Given the pharmacological approaches focused on the TREM2-TYROBP axis, we believe that SIRPβ1 structural variant might be considered as a potential modulator of this causative pathway. [ABSTRACT FROM AUTHOR]

Published
2024
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37. Mendelian Randomisation Confirms the Role of Y-Chromosome Loss in Alzheimer’s Disease Aetiopathogenesis in Men

Author

García-González, Pablo, primary, de Rojas, Itziar, additional, Moreno-Grau, Sonia, additional, Montrreal, Laura, additional, Puerta, Raquel, additional, Alarcón-Martín, Emilio, additional, Quintela, Inés, additional, Orellana, Adela, additional, Andrade, Victor, additional, Adami, Pamela V. Martino, additional, Heilmann-Heimbach, Stefanie, additional, Gomez-Garre, Pilar, additional, Periñán, María Teresa, additional, Alvarez, Ignacio, additional, Diez-Fairen, Monica, additional, Nuñez Llaves, Raul, additional, Olivé Roig, Claudia, additional, Garcia-Ribas, Guillermo, additional, Menéndez-González, Manuel, additional, Martínez, Carmen, additional, Aguilar, Miquel, additional, Buongiorno, Mariateresa, additional, Franco-Macías, Emilio, additional, Saez, Maria Eugenia, additional, Cano, Amanda, additional, Bullido, Maria J., additional, Real, Luis Miguel, additional, Rodríguez-Rodríguez, Eloy, additional, Royo, Jose Luís, additional, Álvarez, Victoria, additional, Pastor, Pau, additional, Piñol-Ripoll, Gerard, additional, Mir, Pablo, additional, Lara, Miguel Calero, additional, Padilla, Miguel Medina, additional, Sánchez-Juan, Pascual, additional, Carracedo, Angel, additional, Valero, Sergi, additional, Hernandez, Isabel, additional, Tàrraga, Lluis, additional, Ramirez, Alfredo, additional, Boada, Mercé, additional, and Ruiz, Agustín, additional

Published
2023
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39. Protective association of HLA‐DRB1*04 subtypes in neurodegenerative diseases implicates acetylated tau PHF6 sequences

Author

Guen, Yann Le, primary, Luo, Guo, additional, Ambati, Aditya, additional, Damotte, Vincent, additional, Jansen, Iris E, additional, Yu, Eric, additional, Nicolas, Aude, additional, de Rojas, Itziar, additional, Leal, Thiago Peixoto, additional, Miyashita, Akinori, additional, Bellenguez, Céline, additional, Lian, Michelle Mulan, additional, Parveen, Kayenat, additional, Morizono, Takashi, additional, Park, Hyeonseul, additional, Grenier‐Boley, Benjamin, additional, Naito, Tatsuhiko, additional, Küçükali, Fahri, additional, Talyansky, Seth D., additional, Yogeshwar, Selina Marie, additional, Sempere, Vicente, additional, Satake, Wataru, additional, Álvarez‐Martínez, Victoria, additional, Arosio, Beatrice, additional, Belloy, Michael E, additional, Benussi, Luisa, additional, Boland, Anne, additional, Borroni, Barbara, additional, Bullido, María J., additional, Caffarra, Paolo, additional, Clarimon, Jordi, additional, Daniele, Antonio, additional, Darling, Daniel, additional, Debette, Stéphanie, additional, Deleuze, Jean‐François, additional, Dichgans, Martin, additional, Dufouil, Carole, additional, During, Emmanuel, additional, Duzel, Emrah, additional, Galimberti, Daniela, additional, García‐Ribas, Guillermo, additional, García‐Alberca, Jose María, additional, García‐González, Pablo, additional, Giedraitis, Vilmantas, additional, Goldhardt, Oliver, additional, Graff, Caroline, additional, Grunblatt, Edna, additional, Hanon, Olivier, additional, Hausner, Lucrezia, additional, Heilmann‐Heimbach, Stefanie, additional, Holstege, Henne, additional, Hort, Jakub, additional, Jung, Yoo Jin, additional, Jurgen, Deckert, additional, Kern, Silke, additional, Kuulasmaa, Teemu, additional, Lee, Kun Ho, additional, Ling, Ling, additional, Masullo, Carlo, additional, Mecocci, Patrizia, additional, Mehrabian, Shima, additional, de Mendonça, Alexandre, additional, Boada, Mercè, additional, Mir, Pablo, additional, Moebus, Susanne, additional, Moreno, Fermin, additional, Nacmias, Benedetta, additional, Nicolas, Gaël, additional, Niida, Shumpei, additional, Nordestgaard, Børge G., additional, Papenberg, Goran, additional, Papma, Janne M., additional, Parnetti, Lucilla, additional, Pasquier, Florence, additional, Pastor, Pau, additional, Peters, Oliver, additional, Pijnenburg, Yolande A.L., additional, Piñol‐Ripoll, Gerard, additional, Popp, Julius, additional, Molina, Laura, additional, Puerta, Raquel, additional, Pérez‐Tur, Jordi, additional, Rainero, Innocenzo, additional, Real, Luis Miguel, additional, Riedel‐Heller, Steffi G., additional, Rodríguez, Eloy Rodríguez, additional, Royo, José Luís, additional, Rujescu, Dan, additional, Scarmeas, Nikolaos, additional, Scheltens, Philip, additional, Scherbaum, Norbert, additional, Schneider, Anja, additional, Seripa, Davide, additional, Skoog, Ingmar, additional, Solfrizzi, Vincenzo, additional, Spalletta, Gianfranco, additional, Squassina, Alessio, additional, van Swieten, John C, additional, Sanchez‐Valle, Raquel, additional, Tan, Eng‐King, additional, Tegos, Thomas, additional, Teunissen, Charlotte E., additional, Thomassen, Jesper Qvist, additional, Tremolizzo, Lucio, additional, Vyhnalek, Martin, additional, Verhey, Frans R.J., additional, Waern, Margda, additional, Wiltfang, Jens, additional, Zhang, Jing, additional, Zetterberg, Henrik, additional, Blennow, Kaj, additional, Williams, Julie, additional, Amouyel, Philippe, additional, Jessen, Frank, additional, Kehoe, Patrick G, additional, Andreassen, Ole, additional, van Duijn, Cornelia M, additional, Tsolaki, Magda, additional, Sanchez‐Juan, Pascual, additional, Frikke‐Schmidt, Ruth, additional, Sleegers, Kristel, additional, Toda, Tatsushi, additional, Zettergren, Anna, additional, Ingelsson, Martin, additional, Okada, Yukinori, additional, Rossi, Giacomina, additional, Hiltunen, Mikko, additional, Gim, Jungsoo, additional, Ozaki, Kouichi, additional, Sims, Rebecca, additional, Foo, Jia Nee, additional, van der Flier, Wiesje M., additional, Ikeuchi, Takeshi, additional, Ramirez, Alfredo, additional, Mata, Ignacio, additional, Ruiz, Agustin, additional, Gan‐Or, Ziv, additional, Lambert, Jean‐Charles, additional, Greicius, Michael D, additional, and Mignot, Emmanuel, additional

Published
2022
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40. Rare missense variant (R251G) on APOE counterbalances the Alzheimer’s disease risk associated with APOE‐ε4

Author

Guen, Yann Le, primary, Belloy, Michael E, additional, Grenier‐Boley, Benjamin, additional, de Rojas, Itziar, additional, Castillo, Atahualpa, additional, Jansen, Iris E, additional, Nicolas, Aude, additional, Bellenguez, Céline, additional, Dalmasso, Carolina, additional, Küçükali, Fahri, additional, Eger, Sarah J, additional, Álvarez‐Martínez, Victoria, additional, Arosio, Beatrice, additional, Benussi, Luisa, additional, Boland, Anne, additional, Borroni, Barbara, additional, Bullido, María J., additional, Caffarra, Paolo, additional, Clarimón, Jordi, additional, Daian, Delphine, additional, Daniele, Antonio, additional, Debette, Stéphanie, additional, Deleuze, Jean‐François, additional, Dichgans, Martin, additional, Dufouil, Carole, additional, Duzel, Emrah, additional, Galimberti, Daniela, additional, García‐Alberca, Jose María, additional, García‐González, Pablo, additional, Giedraitis, Vilmantas, additional, Grimmer, Timo, additional, Graff, Caroline, additional, Grunblatt, Edna, additional, Hanon, Olivier, additional, Hausner, Lucrezia, additional, Heilmann‐Heimbach, Stefanie, additional, Holstege, Henne, additional, Hort, Jakub, additional, Jurgen, Deckert, additional, Kuulasmaa, Teemu, additional, van der Lugt, Aad, additional, Masullo, Carlo, additional, Mecocci, Patrizia, additional, Mehrabian, Shima, additional, de Mendonça, Alexandre, additional, Boada, Mercè, additional, Mir, Pablo, additional, Moebus, Susanne, additional, Moreno, Fermin, additional, Nacmias, Benedetta, additional, Nicolas, Gaël, additional, Papenberg, Goran, additional, Parnetti, Lucilla, additional, Pasquier, Florence, additional, Pastor, Pau, additional, Peters, Oliver, additional, Pijnenburg, Yolande A.L., additional, Piñol‐Ripoll, Gerard, additional, Popp, Julius, additional, Molina, Laura, additional, Puerta, Raquel, additional, Pérez‐Tur, Jordi, additional, Rainero, Innocenzo, additional, Ramakers, Inez H.G.B., additional, Rasmussen, Katrine Laura, additional, Real, Luis Miguel, additional, Riedel‐Heller, Steffi G., additional, Rodríguez, Eloy Rodríguez, additional, Royo, José Luís, additional, Rujescu, Dan, additional, Scarmeas, Nikolaos, additional, Scheltens, Philip, additional, Scherbaum, Norbert, additional, Schneider, Anja, additional, Seripa, Davide, additional, Soininen, Hilkka, additional, Solfrizzi, Vincenzo, additional, Spalletta, Gianfranco, additional, Squassina, Alessio, additional, van Swieten, John C, additional, Sanchez‐Valle, Raquel, additional, Tegos, Thomas, additional, Thomassen, Jesper Qvist, additional, Tremolizzo, Lucio, additional, Verhey, Frans R.J., additional, Vyhnalek, Martin, additional, Wiltfang, Jens, additional, He, Zihuai, additional, Napolioni, Valerio, additional, Amouyel, Philippe, additional, Jessen, Frank, additional, Kehoe, Patrick G, additional, van Duijn, Cornelia M, additional, Tsolaki, Magda, additional, Sanchez‐Juan, Pascual, additional, Sleegers, Kristel, additional, Ingelsson, Martin, additional, Rossi, Giacomina, additional, Hiltunen, Mikko, additional, Sims, Rebecca, additional, van der Flier, Wiesje M., additional, Ramirez, Alfredo, additional, Andreassen, Ole, additional, Frikke‐Schmidt, Ruth, additional, Williams, Julie, additional, Ruiz, Agustin, additional, Lambert, Jean‐Charles, additional, and Greicius, Michael D, additional

Published
2022
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41. Identification of a sex-specific genetic signature in dementia with Lewy bodies: a meta-analysis of genome-wide association studies

Author

Gibbons, Elizabeth, primary, Rongve, Arvid, additional, de Rojas, Itziar, additional, Shadrin, Alexey, additional, Westra, Kaitlyn, additional, Baumgartner, Allison, additional, Rosendall, Levi, additional, Madaj, Zachary, additional, Hernandez, Dena G., additional, Ross, Owen A., additional, Escott-Price, Valentina, additional, Shepherd, Claire, additional, Parkkinen, Laura, additional, Scholz, Sonja W., additional, Troncoso, Juan C., additional, Pletnikova, Olga, additional, Dawson, Ted, additional, Rosenthal, Liana, additional, Ansorge, Olaf, additional, Clarimon, Jordi, additional, Lleo, Alberto, additional, Morenas-Rodriguez, Estrella, additional, Clark, Lorraine, additional, Honig, Lawrence S, additional, Marder, Karen, additional, Lemstra, Afina, additional, Rogaeva, Ekaterina, additional, George-Hyslop, Peter St., additional, Londos, Elisabet, additional, Zetterberg, Henrik, additional, Morgan, Kevin, additional, Troakes, Claire, additional, Al-Sarraj, Safa, additional, Lashley, Tammaryn, additional, Holton, Janice, additional, Compta, Yaroslau, additional, Van Deerlin, Vivianna, additional, Serrano, Geidy E, additional, Beach, Thomas G, additional, Lesage, Suzanne, additional, Galasko, Douglas, additional, Masliah, Eliezer, additional, Santana, Isabel, additional, Pastor, Pau, additional, Diez-Fairen, Monica, additional, Aguilar, Miquel, additional, Marquie, Marta, additional, Garcia-Gonzalez, Pablo, additional, Olive, Claudia, additional, Puerta, Raquel, additional, Cano, Amanda, additional, Sotolongo-Grau, Oscar, additional, Valero, Sergi, additional, Pytel, Vanesa Veronica, additional, Rosende-Roca, Maitee, additional, Alegret, Montserrat, additional, Tarraga, Lluis, additional, Boada, Merce, additional, Carracedo, Angel, additional, Franco-Macias, Emilio, additional, Perez-Tur, Jordi, additional, Royo, Jose Luis, additional, Garcia-Alberca, Jose Maria, additional, Real, Luis Miguel, additional, Saez, Maria Eugenia, additional, Bullido, Maria Jesus, additional, Calero, Miguel, additional, Medina, Miguel, additional, Mir, Pablo, additional, Sanchez-Juan, Pascual, additional, Alvarez, Victoria, additional, Parveen, Kayenat, additional, Tripathi, Kumar Parijat, additional, Heilmann-Heimbach, Stefanie, additional, Ramirez, Alfredo, additional, Tienari, Pentti J., additional, Bousiges, Olivier, additional, Blanc, Frederic, additional, Fenoglio, Chiara, additional, Padovani, Alessandro, additional, Borroni, Barbara, additional, Pilotto, Andrea, additional, Nobili, Flavio, additional, Saltvedt, Ingvild, additional, Fladby, Tormod, additional, Selbaek, Geir, additional, Bosnes, Ingunn, additional, Brathen, Geir, additional, Hartmann, Annette, additional, Lemstra, Afina W., additional, Rujescu, Dan, additional, Mollenhauer, Brit, additional, Creese, Byron, additional, Chartier-Harlin, Marie-Christine, additional, Athanasiu, Lavinia, additional, Djurovic, Srdjan, additional, Chouliaras, Leonidas, additional, OBrien, John T., additional, Myllykangas, Liisa, additional, Oinas, Minna, additional, Revesz, Tamas, additional, Lees, Andrew, additional, Boeve, Brad F, additional, Petersen, Ronald C., additional, Ferman, Tanis J, additional, Graff-Radford, Neill, additional, Cairns, Nigel J., additional, Morris, John C., additional, Halliday, Glenda M., additional, Hardy, John, additional, Dickson, Dennis W., additional, Singleton, Andrew, additional, Stone, David J., additional, Andreassen, Ole A., additional, Ruiz, Agustin, additional, Aarsland, Dag, additional, Guerreiro, Rita, additional, and Bras, Jose, additional

Published
2022
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42. No association of a risk variant for severe COVID-19 with HIV protection in three cohorts of highly exposed individuals

Author

Sironi, Manuela, primary, Cagliani, Rachele, additional, Biasin, Mara, additional, Lo Caputo, Sergio, additional, Saulle, Irma, additional, Forni, Diego, additional, Real, Luis Miguel, additional, Pineda, Juan Antonio, additional, Exposito, Almudena, additional, Saez, María Eugenia, additional, Sinangil, Faruk, additional, Forthal, Donald, additional, Caruz, Antonio, additional, and Clerici, Mario, additional

Published
2022
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43. Novel genes and sex differences in COVID-19 severity

Author

Cruz, Raquel, Diz-de Almeida, Silvia, López de Heredia, Miguel, Quintela, Inés, Ceballos, Francisco C, Pita, Guillermo, Lorenzo-Salazar, José M, González-Montelongo, Rafaela, Gago-Domínguez, Manuela, Sevilla Porras, Marta, Tenorio Castaño, Jair Antonio, Nevado, Julian, Aguado, Jose María, Aguilar, Carlos, Aguilera-Albesa, Sergio, Almadana, Virginia, Almoguera, Berta, Alvarez, Nuria, Andreu-Bernabeu, Álvaro, Arana-Arri, Eunate, Arango, Celso, Arranz, María J, Artiga, Maria-Jesus, Baptista-Rosas, Raúl C, Barreda-Sánchez, María, Belhassen-Garcia, Moncef, Bezerra, Joao F, Bezerra, Marcos A C, Boix-Palop, Lucía, Brion, María, Brugada, Ramón, Bustos, Matilde, Calderón, Enrique J, Carbonell, Cristina, Castano, Luis, Castelao, Jose E, Conde-Vicente, Rosa, Cordero-Lorenzana, M Lourdes, Cortes-Sanchez, Jose L, Corton, Marta, Darnaude, M Teresa, De Martino-Rodríguez, Alba, Del Campo-Pérez, Victor, Diaz de Bustamante, Aranzazu, Domínguez-Garrido, Elena, Luchessi, Andre D, Eiros, Rocío, Estigarribia Sanabria, Gladys Mercedes, Carmen Fariñas, María, Fernández-Robelo, Uxía, Fernández-Rodríguez, Amanda, Fernández-Villa, Tania, Gil-Fournier, Belén, Gómez-Arrue, Javier, González Álvarez, Beatriz, Gonzalez Bernaldo de Quirós, Fernan, González-Peñas, Javier, Gutiérrez-Bautista, Juan F, Herrero, María José, Herrero-Gonzalez, Antonio, Jimenez-Sousa, María A, Lattig, María Claudia, Liger Borja, Anabel, Lopez-Rodriguez, Rosario, Mancebo, Esther, Martín-López, Caridad, Martín, Vicente, Martinez-Nieto, Oscar, Martinez-Lopez, Iciar, Martinez-Resendez, Michel F, Martinez-Perez, Angel, Mazzeu, Juliana F, Merayo Macías, Eleuterio, Minguez, Pablo, Moreno Cuerda, Victor, Silbiger, Vivian N, Oliveira, Silviene F, Ortega-Paino, Eva, Parellada, Mara, Paz-Artal, Estela, Santos, Ney P C, Pérez-Matute, Patricia, Perez, Patricia, Pérez-Tomás, M Elena, Perucho, Teresa, Pinsach-Abuin, Mel Lina, Pompa-Mera, Ericka N, Porras-Hurtado, Gloria L, Pujol, Aurora, Ramiro León, Soraya, Resino, Salvador, Fernandes, Marianne R, Rodríguez-Ruiz, Emilio, Rodriguez-Artalejo, Fernando, Rodriguez-Garcia, José A, Ruiz Cabello, Francisco, Ruiz-Hornillos, Javier, Ryan, Pablo, Soria, José Manuel, Souto, Juan Carlos, Tamayo, Eduardo, Tamayo-Velasco, Alvaro, Taracido-Fernandez, Juan Carlos, Teper, Alejandro, Torres-Tobar, Lilian, Urioste, Miguel, Valencia-Ramos, Juan, Yáñez, Zuleima, Zarate, Ruth, Nakanishi, Tomoko, Pigazzini, Sara, Degenhardt, Frauke, Butler-Laporte, Guillaume, Maya-Miles, Douglas, Bujanda, Luis, Bouysran, Youssef, Palom, Adriana, Ellinghaus, David, Martínez-Bueno, Manuel, Rolker, Selina, Amitrano, Sara, Roade, Luisa, Fava, Francesca, Spinner, Christoph D, Prati, Daniele, Bernardo, David, Garcia, Federico, Darcis, Gilles, Fernández-Cadenas, Israel, Holter, Jan Cato, Banales, Jesus M, Frithiof, Robert, Duga, Stefano, Asselta, Rosanna, Pereira, Alexandre C, Romero-Gómez, Manuel, Nafría-Jiménez, Beatriz, Hov, Johannes R, Migeotte, Isabelle, Renieri, Alessandra, Planas, Anna M, Ludwig, Kerstin U, Buti, Maria, Rahmouni, Souad, Alarcón-Riquelme, Marta E, Schulte, Eva C, Franke, Andre, Karlsen, Tom H, Valenti, Luca, Zeberg, Hugo, Richards, Brent, Ganna, Andrea, Boada, Mercè, de Rojas, Itziar, Ruiz, Agustín, Sánchez-Juan, Pascual, Real, Luis Miguel, Guillen-Navarro, Encarna, Ayuso, Carmen, González-Neira, Anna, Riancho, José A, Rojas-Martinez, Augusto, Flores, Carlos, Lapunzina, Pablo, Carracedo, Angel, Cruz, Raquel, Diz-de Almeida, Silvia, López de Heredia, Miguel, Quintela, Inés, Ceballos, Francisco C, Pita, Guillermo, Lorenzo-Salazar, José M, González-Montelongo, Rafaela, Gago-Domínguez, Manuela, Sevilla Porras, Marta, Tenorio Castaño, Jair Antonio, Nevado, Julian, Aguado, Jose María, Aguilar, Carlos, Aguilera-Albesa, Sergio, Almadana, Virginia, Almoguera, Berta, Alvarez, Nuria, Andreu-Bernabeu, Álvaro, Arana-Arri, Eunate, Arango, Celso, Arranz, María J, Artiga, Maria-Jesus, Baptista-Rosas, Raúl C, Barreda-Sánchez, María, Belhassen-Garcia, Moncef, Bezerra, Joao F, Bezerra, Marcos A C, Boix-Palop, Lucía, Brion, María, Brugada, Ramón, Bustos, Matilde, Calderón, Enrique J, Carbonell, Cristina, Castano, Luis, Castelao, Jose E, Conde-Vicente, Rosa, Cordero-Lorenzana, M Lourdes, Cortes-Sanchez, Jose L, Corton, Marta, Darnaude, M Teresa, De Martino-Rodríguez, Alba, Del Campo-Pérez, Victor, Diaz de Bustamante, Aranzazu, Domínguez-Garrido, Elena, Luchessi, Andre D, Eiros, Rocío, Estigarribia Sanabria, Gladys Mercedes, Carmen Fariñas, María, Fernández-Robelo, Uxía, Fernández-Rodríguez, Amanda, Fernández-Villa, Tania, Gil-Fournier, Belén, Gómez-Arrue, Javier, González Álvarez, Beatriz, Gonzalez Bernaldo de Quirós, Fernan, González-Peñas, Javier, Gutiérrez-Bautista, Juan F, Herrero, María José, Herrero-Gonzalez, Antonio, Jimenez-Sousa, María A, Lattig, María Claudia, Liger Borja, Anabel, Lopez-Rodriguez, Rosario, Mancebo, Esther, Martín-López, Caridad, Martín, Vicente, Martinez-Nieto, Oscar, Martinez-Lopez, Iciar, Martinez-Resendez, Michel F, Martinez-Perez, Angel, Mazzeu, Juliana F, Merayo Macías, Eleuterio, Minguez, Pablo, Moreno Cuerda, Victor, Silbiger, Vivian N, Oliveira, Silviene F, Ortega-Paino, Eva, Parellada, Mara, Paz-Artal, Estela, Santos, Ney P C, Pérez-Matute, Patricia, Perez, Patricia, Pérez-Tomás, M Elena, Perucho, Teresa, Pinsach-Abuin, Mel Lina, Pompa-Mera, Ericka N, Porras-Hurtado, Gloria L, Pujol, Aurora, Ramiro León, Soraya, Resino, Salvador, Fernandes, Marianne R, Rodríguez-Ruiz, Emilio, Rodriguez-Artalejo, Fernando, Rodriguez-Garcia, José A, Ruiz Cabello, Francisco, Ruiz-Hornillos, Javier, Ryan, Pablo, Soria, José Manuel, Souto, Juan Carlos, Tamayo, Eduardo, Tamayo-Velasco, Alvaro, Taracido-Fernandez, Juan Carlos, Teper, Alejandro, Torres-Tobar, Lilian, Urioste, Miguel, Valencia-Ramos, Juan, Yáñez, Zuleima, Zarate, Ruth, Nakanishi, Tomoko, Pigazzini, Sara, Degenhardt, Frauke, Butler-Laporte, Guillaume, Maya-Miles, Douglas, Bujanda, Luis, Bouysran, Youssef, Palom, Adriana, Ellinghaus, David, Martínez-Bueno, Manuel, Rolker, Selina, Amitrano, Sara, Roade, Luisa, Fava, Francesca, Spinner, Christoph D, Prati, Daniele, Bernardo, David, Garcia, Federico, Darcis, Gilles, Fernández-Cadenas, Israel, Holter, Jan Cato, Banales, Jesus M, Frithiof, Robert, Duga, Stefano, Asselta, Rosanna, Pereira, Alexandre C, Romero-Gómez, Manuel, Nafría-Jiménez, Beatriz, Hov, Johannes R, Migeotte, Isabelle, Renieri, Alessandra, Planas, Anna M, Ludwig, Kerstin U, Buti, Maria, Rahmouni, Souad, Alarcón-Riquelme, Marta E, Schulte, Eva C, Franke, Andre, Karlsen, Tom H, Valenti, Luca, Zeberg, Hugo, Richards, Brent, Ganna, Andrea, Boada, Mercè, de Rojas, Itziar, Ruiz, Agustín, Sánchez-Juan, Pascual, Real, Luis Miguel, Guillen-Navarro, Encarna, Ayuso, Carmen, González-Neira, Anna, Riancho, José A, Rojas-Martinez, Augusto, Flores, Carlos, Lapunzina, Pablo, and Carracedo, Angel

Abstract

Here, we describe the results of a genome-wide study conducted in 11 939 coronavirus disease 2019 (COVID-19) positive cases with an extensive clinical information that were recruited from 34 hospitals across Spain (SCOURGE consortium). In sex-disaggregated genome-wide association studies for COVID-19 hospitalization, genome-wide significance (P < 5 × 10−8) was crossed for variants in 3p21.31 and 21q22.11 loci only among males (P = 1.3 × 10−22 and P = 8.1 × 10−12, respectively), and for variants in 9q21.32 near TLE1 only among females (P = 4.4 × 10−8). In a second phase, results were combined with an independent Spanish cohort (1598 COVID-19 cases and 1068 population controls), revealing in the overall analysis two novel risk loci in 9p13.3 and 19q13.12, with fine-mapping prioritized variants functionally associated with AQP3 (P = 2.7 × 10−8) and ARHGAP33 (P = 1.3 × 10−8), respectively. The meta-analysis of both phases with four European studies stratified by sex from the Host Genetics Initiative (HGI) confirmed the association of the 3p21.31 and 21q22.11 loci predominantly in males and replicated a recently reported variant in 11p13 (ELF5, P = 4.1 × 10−8). Six of the COVID-19 HGI discovered loci were replicated and an HGI-based genetic risk score predicted the severity strata in SCOURGE. We also found more SNP-heritability and larger heritability differences by age (<60 or ≥60 years) among males than among females. Parallel genome-wide screening of inbreeding depression in SCOURGE also showed an effect of homozygosity in COVID-19 hospitalization and severity and this effect was stronger among older males. In summary, new candidate genes for COVID-19 severity and evidence supporting genetic disparities among sexes are provided.

Published
2022
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44. No association of a risk variant for severe COVID-19 with HIV protection in three cohorts of highly-exposed individuals

Author

Sironi, M, Cagliani, R, Biasin, M, Caputo, S, Saulle, I, Forni, D, Real, L, Pineda, J, Exposito, A, Saez, M, Sinangil, F, Forthal, D, Caruz, A, Clerici, M, Sironi, Manuela, Cagliani, Rachele, Biasin, Mara, Caputo, Sergio Lo, Saulle, Irma, Forni, Diego, Real, Luis Miguel, Pineda, Juan Antonio, Exposito, Almudena, Saez, María Eugenia, Sinangil, Faruk, Forthal, Donald, Caruz, Antonio, Clerici, Mario, Sironi, M, Cagliani, R, Biasin, M, Caputo, S, Saulle, I, Forni, D, Real, L, Pineda, J, Exposito, A, Saez, M, Sinangil, F, Forthal, D, Caruz, A, Clerici, M, Sironi, Manuela, Cagliani, Rachele, Biasin, Mara, Caputo, Sergio Lo, Saulle, Irma, Forni, Diego, Real, Luis Miguel, Pineda, Juan Antonio, Exposito, Almudena, Saez, María Eugenia, Sinangil, Faruk, Forthal, Donald, Caruz, Antonio, and Clerici, Mario

Abstract

An extended haplotype on chromosome 3 is the major genetic risk factor for severe COVID-19. The risk haplotype, which was inherited from Neanderthals, decreases the expression of several cytokine receptors, including CCR5. Recently, a study based on three general population cohorts indicated that the minor allele of one of the variants in the haplotype (rs17713054) protects against HIV infection.We thus expected this allele to be over-represented in highly exposed individuals who remain uninfected (exposed seronegative individuals, ESN). To perform a meta-analysis, we genotyped rs17713054 in three ESN cohorts of European ancestry exposed to HIV through different routes. No evidence of association was detected in the single cohorts. The meta-analysis also failed to detect any effect of the variant on protection from HIV-1. The same results were obtained in a Cox-regression analysis for the time to seroconversion. An in-vitro infection assay did not detect differences in viral replication as a function of rs17713054 genotype status. We conclude that the rs17713054 minor allele is not associated with the ESN phenotype and does not modulate HIV infection in vitro.

Published
2022

45. Controlled attenuation parameter-insulin resistance (CIR) score to predict non-alcoholic steatohepatitis

Author

Universidad de Sevilla. Departamento de Medicina, Universidad de Sevilla. Departamento de Cirugía, Universidad de Sevilla. Departamento de Fisiología, Consejería de Salud y Familias. Junta de Andalucía, Instituto de Salud Carlos III, Servicio Andaluz de Salud, European Commission (EC). Fondo Europeo de Desarrollo Regional (FEDER), Macías Sánchez, Juan, Parra Membrives, Pablo, Sosa Moreno, Francisco, Rincón, Pilar, Martínez Baena, Darío, Fernández Fuertes, Marta, Lorente Herce, José Manuel, Martínez, Rafael C., Jiménez Riera, Águeda Granada, Corma Gómez, Anaïs, González-Serna Martín, Manuel Alejandro, Pineda Vergara, Juan Antonio, Real, Luis Miguel, Universidad de Sevilla. Departamento de Medicina, Universidad de Sevilla. Departamento de Cirugía, Universidad de Sevilla. Departamento de Fisiología, Consejería de Salud y Familias. Junta de Andalucía, Instituto de Salud Carlos III, Servicio Andaluz de Salud, European Commission (EC). Fondo Europeo de Desarrollo Regional (FEDER), Macías Sánchez, Juan, Parra Membrives, Pablo, Sosa Moreno, Francisco, Rincón, Pilar, Martínez Baena, Darío, Fernández Fuertes, Marta, Lorente Herce, José Manuel, Martínez, Rafael C., Jiménez Riera, Águeda Granada, Corma Gómez, Anaïs, González-Serna Martín, Manuel Alejandro, Pineda Vergara, Juan Antonio, and Real, Luis Miguel

Abstract

The diagnosis of non-alcoholic steatohepatitis (NASH) requires liver biopsy. Patients with NASH are at risk of progression to advanced fibrosis and hepatocellular carcinoma. A reliable non-invasive tool for the detection of NASH is needed. We aimed at developing a tool to diagnose NASH based on a predictive model including routine clinical and transient hepatic elastography (TE) data. All subjects undergoing elective cholecystectomy in our center were invited to participate, if alcohol intake was < 30 g/d for men and < 15 g/d for women. TE with controlled attenuation parameter (CAP) was obtained before surgery. A liver biopsy was taken during surgery. Multivariate logistic regression models to predict NASH were constructed with the first 100 patients, the elaboration group, and the results were validated in the next pre-planned 50 patients. Overall, 155 patients underwent liver biopsy. In the elaboration group, independent predictors of NASH were CAP value [adjusted OR (AOR) 1.024, 95% confidence interval (95% CI) 1.002–1.046, p = 0.030] and HOMA value (AOR 1.847, 95% CI 1.203–2.835, p < 0.001). An index derived from the logistic regression equation to identify NASH was designated as the CAP-insulin resistance (CIR) score. The area under the receiver operating characteristic curve (95%CI) of the CIR score was 0.93 (0.87–0.99). Positive (PPV) and negative predictive values (NPV) of the CIR score were 82% and 91%, respectively. In the validation set, PPV was 83% and NPV was 88%. In conclusion, the CIR score, a simple index based on CAP and HOMA, can reliably identify patients with and without NASH.

Published
2022

46. Supplemental Online Content. Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease

Author

Le Guen, Yann, Belloy, Michael E, Grenier-Boley, Benjamin, de Rojas, Itziar, Castillo-Morales, Atahualpa, Jansen, Iris, Nicolas, Aude, Bellenguez, Céline, Dalmasso, Carolina, Küçükali, Fahri, Eger, Sarah J, Jürgen, Deckert, Kuulasmaa, Teemu, van der Lugt, Aad, Masullo, Carlo, Mecocci, Patrizia, Mehrabian, Shima, de Mendonça, Alexandre, Moebus, Susanne, Nacmias, Benedetta, Nicolas, Gael, Olaso, Robert, Papenberg, Goran, Parnetti, Lucilla, Pasquier, Florence, Peters, Oliver, Pijnenburg, Yolande A L, Popp, Julius, Rainero, Innocenzo, Ramakers, Inez, Riedel-Heller, Steffi, Scarmeas, Nikolaos, Scheltens, Philip, Scherbaum, Norbert, Schneider, Anja, Seripa, Davide, Soininen, Hilkka, Solfrizzi, Vincenzo, Spalletta, Gianfranco, Squassina, Alessio, van Swieten, John, Tegos, Thomas J, Tremolizzo, Lucio, Verhey, Frans, Vyhnalek, Martin, Wiltfang, Jens, Boada, Mercè, García-González, Pablo, Puerta, Raquel, Real, Luis Miguel, Álvarez, Victoria, Bullido, María J., Clarimón, Jordi, García-Alberca, José María, Mir, Pablo, Moreno, Fermín, Pastor, Pau, Piñol-Ripoll, Gerard, Molina-Porcel, Laura, Pérez-Tur, Jordi, Rodríguez Martínez, Eloy, Royo, José Luis, Sánchez-Valle, Raquel, Dichgans, Martin, Rujescu, Dan, Rasmussen, Katrine Laura, Thomassen, Jesper Qvist, Deleuze, Jean-François, He, Zihuai, Napolioni, Valerio, Amouyel, Philippe, Jessen, Frank, Kehoe, Patrick G., van Duijn, Cornelia, Tsolaki, Magda, Sánchez-Juan, Pascual, Sleegers, Kristel, Ingelsson, Martin, Rossi, Giacomina, Hiltunen, Mikko, Sims, Rebecca, van der Flier, Wiesje M., Ramírez, Alfredo, Andreassen, Ole A., Frikke-Schmidt, Ruth, Williams, Julie, Ruiz, Agustín, Lambert, Jean-Charles, Greicius, Michael D, Arosio, Beatrice, Benussi, Luisa, Boland, Anne, Borroni, Barbara, Caffarra, Paolo, Daian, Delphine, Daniele, Antonio, Debette, Stéphanie, Dufouil, Carole, Düzel, Emrah, Galimberti, Daniela, Giedraitis, Vilmantas, Grimmer, Timo, Graff, Caroline, Grünblatt, Edna, Hanon, Olivier, Hausner, Lucrezia, Heilmann-Heimbach, Stefanie, Holstege, Henne, Hort, Jakub, Le Guen, Yann, Belloy, Michael E, Grenier-Boley, Benjamin, de Rojas, Itziar, Castillo-Morales, Atahualpa, Jansen, Iris, Nicolas, Aude, Bellenguez, Céline, Dalmasso, Carolina, Küçükali, Fahri, Eger, Sarah J, Jürgen, Deckert, Kuulasmaa, Teemu, van der Lugt, Aad, Masullo, Carlo, Mecocci, Patrizia, Mehrabian, Shima, de Mendonça, Alexandre, Moebus, Susanne, Nacmias, Benedetta, Nicolas, Gael, Olaso, Robert, Papenberg, Goran, Parnetti, Lucilla, Pasquier, Florence, Peters, Oliver, Pijnenburg, Yolande A L, Popp, Julius, Rainero, Innocenzo, Ramakers, Inez, Riedel-Heller, Steffi, Scarmeas, Nikolaos, Scheltens, Philip, Scherbaum, Norbert, Schneider, Anja, Seripa, Davide, Soininen, Hilkka, Solfrizzi, Vincenzo, Spalletta, Gianfranco, Squassina, Alessio, van Swieten, John, Tegos, Thomas J, Tremolizzo, Lucio, Verhey, Frans, Vyhnalek, Martin, Wiltfang, Jens, Boada, Mercè, García-González, Pablo, Puerta, Raquel, Real, Luis Miguel, Álvarez, Victoria, Bullido, María J., Clarimón, Jordi, García-Alberca, José María, Mir, Pablo, Moreno, Fermín, Pastor, Pau, Piñol-Ripoll, Gerard, Molina-Porcel, Laura, Pérez-Tur, Jordi, Rodríguez Martínez, Eloy, Royo, José Luis, Sánchez-Valle, Raquel, Dichgans, Martin, Rujescu, Dan, Rasmussen, Katrine Laura, Thomassen, Jesper Qvist, Deleuze, Jean-François, He, Zihuai, Napolioni, Valerio, Amouyel, Philippe, Jessen, Frank, Kehoe, Patrick G., van Duijn, Cornelia, Tsolaki, Magda, Sánchez-Juan, Pascual, Sleegers, Kristel, Ingelsson, Martin, Rossi, Giacomina, Hiltunen, Mikko, Sims, Rebecca, van der Flier, Wiesje M., Ramírez, Alfredo, Andreassen, Ole A., Frikke-Schmidt, Ruth, Williams, Julie, Ruiz, Agustín, Lambert, Jean-Charles, Greicius, Michael D, Arosio, Beatrice, Benussi, Luisa, Boland, Anne, Borroni, Barbara, Caffarra, Paolo, Daian, Delphine, Daniele, Antonio, Debette, Stéphanie, Dufouil, Carole, Düzel, Emrah, Galimberti, Daniela, Giedraitis, Vilmantas, Grimmer, Timo, Graff, Caroline, Grünblatt, Edna, Hanon, Olivier, Hausner, Lucrezia, Heilmann-Heimbach, Stefanie, Holstege, Henne, and Hort, Jakub

Abstract

Data for this study were prepared, archived, and distributed by the National Institute on Aging Alzheimer’s Disease Data Storage Site (NIAGADS) at the University of Pennsylvania (U24-AG041689), funded by the National Institute on Aging.

Published
2022

47. Supplementary files of the article 'Novel genes and sex differences in COVID-19 severity' [Dataset]

Author

Cruz Modino, Raquel de la, Diz-de Almeida, Silvia, López de Heredia, Miguel, Quintela, Inés, Ceballos, Francisco C., Pita, Guillermo, Lorenzo-Salazar, José M., González-Montelongo, Rafaela, Gago-Dominguez, Manuela, Sevilla Porras, Marta, Tenorio Castaño, Jair Antonio, Carbonell, Cristina, Migeotte, Isabelle, Renieri, Alessandra, Aguilera-Albesa, Sergio, Planas, Anna M., Ludwig, Kerstin U., Buti, María, Rahmouni, Souad, Alarcón-Riquelme, Marta E., Schulte, Eva C., Tamayo-Velasco, Álvaro, Franke, Andre, Castaño, Luis, Karlsen, Tom H., Valenti, Luca, Zeberg, Hugo, Almadana Pacheco, Virginia, Richards, Brent, Ganna, Andrea, Boada, Mercè, Rojas, Itziar de, Gil-Fournier, Belén, Ruiz, Agustín, Sánchez-Juan, Pascual, Castelao, Jose E., Real, Luis Miguel, SCOURGE Cohort Group, HOSTAGE Cohort Group, GRA@CE Cohort Group, Almoguera, Berta, Guillen-Navarro, Encarna, Ayuso, Carmen, Gómez-Arrue, Javier, González-Neira, Anna, Riancho, José A., Rojas-Martinez, Augusto, Conde-Vicente, Rosa, Flores, Carlos, Lapunzina, Pablo, Carracedo, Ángel, Álvarez, Nuria, Andreu-Bernabeu, Álvaro, Arana-Arri, Eunate, González Álvarez, Beatriz, Arango, Celso, Arranz, Maria J., Artiga, María Jesús, Baptista-Rosas, Raúl C., Cordero-Lorenzana, M. Lourdes, Barreda-Sánchez, María, Belhassen-García, Moncef, Bezerra, Joao F., Bezerra, Marcos A. C., Boix-Palop, Lucía, Gonzalez Bernaldo de Quirós, Fernán, Briones, María, Brugada, Ramón, Bustos, Matilde, Cortés-Sánchez, José L., Cortón, Marta, Darnaude, M. Teresa, Martino-Rodríguez, Alba de, Tamayo, Eduardo, Campo-Pérez, Víctor de, Diaz de Bustamante, Aranzazu, González-Peñas, Javier, Domínguez-Garrido, Elena, Luchessi, Andre D., Eiros, Rocío, Estigarribia Sanabria, Gladys Mercedes, Fariñas, María del Carmen, Fernández-Robelo, Uxía, Fernández-Rodríguez, Amanda, Fernández-Villa, Tania, Gutiérrez-Bautista, Juan F., Herrero, María José, Herrero-Gonzalez, Antonio, Jiménez-Sousa, María A., Aguado, José María, Lattig, María Claudia, Taracido-Fernandez, Juan Carlos, Liger Borja, Anabel, López-Rodríguez, Rosario, Mancebo, Esther, Martín-López, Caridad, Martín, Vicente, Martínez-Nieto, Oscar, Martinez-López, Icíar, Martinez-Resendez, Michel F., Amitrano, Sara, Martínez-Pérez, Àngel, Mazzeu, Juliana F, Teper, Alejandro, Merayo Macías, Eleuterio, Mínguez, Pablo, Moreno Cuerda, Víctor, Silbiger, Vivian N., Oliveira, Silviene F., Ortega-Paino, Eva, Parellada, Mara, Roade, Luisa, Paz-Artal, Estela, Santos, Ney P. C., Pérez-Matute, Patricia, Torres-Tobar, Lilian, Pérez Ramírez, Patricia, Pérez-Tomás, M. Elena, Perucho, Teresa, Pinsach-Abuin, Mel Lina, Pompa-Mera, Ericka N., Porras-Hurtado, Gloria L., Fava, Francesca, Pujol, Aurora, Ramiro León, Soraya, Resino, Salvador, Fernandes, Marianne R., Urioste, Miguel, Rodríguez-Ruiz, Emilio, Rodríguez-Artalejo, Fernando, Rodríguez-García, José A, Ruiz Cabello, Francisco, Ruiz-Hornillos, Javier, Spinner, Christoph D., Ryan, Pablo, Soria, José Manuel, Souto, Juan Carlos, Valencia-Ramos, Juan, Yáñez, Zuleima, Zarate, Ruth, Nakanishi, Tomoko, Nevado, Julian, Pigazzini, Sara, Degenhardt, Frauke, Prati, Daniele, Butler-Laporte, Guillaume, Maya-Miles, Douglas, Bujanda, Luis, Bouysran, Youssef, Palom, Adriana, Ellinghaus, David, Martínez-Bueno, Manuel, Rolker, Selina, Bernardo, David, García, Federico, Darcis, Gilles, Fernández-Cadenas, Israel, Calderón, Enrique J., Holter, Jan Cato, Aguilar, Carlos, Banales, Jesús M., Frithiof, Robert, Duga, Stefano, Asselta, Rosanna, Pereira, Alexandre C., Romero-Gómez, Manuel, Nafría-Jiménez, Beatriz, Hov, Johannes R., Cruz Modino, Raquel de la, Diz-de Almeida, Silvia, López de Heredia, Miguel, Quintela, Inés, Ceballos, Francisco C., Pita, Guillermo, Lorenzo-Salazar, José M., González-Montelongo, Rafaela, Gago-Dominguez, Manuela, Sevilla Porras, Marta, Tenorio Castaño, Jair Antonio, Carbonell, Cristina, Migeotte, Isabelle, Renieri, Alessandra, Aguilera-Albesa, Sergio, Planas, Anna M., Ludwig, Kerstin U., Buti, María, Rahmouni, Souad, Alarcón-Riquelme, Marta E., Schulte, Eva C., Tamayo-Velasco, Álvaro, Franke, Andre, Castaño, Luis, Karlsen, Tom H., Valenti, Luca, Zeberg, Hugo, Almadana Pacheco, Virginia, Richards, Brent, Ganna, Andrea, Boada, Mercè, Rojas, Itziar de, Gil-Fournier, Belén, Ruiz, Agustín, Sánchez-Juan, Pascual, Castelao, Jose E., Real, Luis Miguel, SCOURGE Cohort Group, HOSTAGE Cohort Group, GRA@CE Cohort Group, Almoguera, Berta, Guillen-Navarro, Encarna, Ayuso, Carmen, Gómez-Arrue, Javier, González-Neira, Anna, Riancho, José A., Rojas-Martinez, Augusto, Conde-Vicente, Rosa, Flores, Carlos, Lapunzina, Pablo, Carracedo, Ángel, Álvarez, Nuria, Andreu-Bernabeu, Álvaro, Arana-Arri, Eunate, González Álvarez, Beatriz, Arango, Celso, Arranz, Maria J., Artiga, María Jesús, Baptista-Rosas, Raúl C., Cordero-Lorenzana, M. Lourdes, Barreda-Sánchez, María, Belhassen-García, Moncef, Bezerra, Joao F., Bezerra, Marcos A. C., Boix-Palop, Lucía, Gonzalez Bernaldo de Quirós, Fernán, Briones, María, Brugada, Ramón, Bustos, Matilde, Cortés-Sánchez, José L., Cortón, Marta, Darnaude, M. Teresa, Martino-Rodríguez, Alba de, Tamayo, Eduardo, Campo-Pérez, Víctor de, Diaz de Bustamante, Aranzazu, González-Peñas, Javier, Domínguez-Garrido, Elena, Luchessi, Andre D., Eiros, Rocío, Estigarribia Sanabria, Gladys Mercedes, Fariñas, María del Carmen, Fernández-Robelo, Uxía, Fernández-Rodríguez, Amanda, Fernández-Villa, Tania, Gutiérrez-Bautista, Juan F., Herrero, María José, Herrero-Gonzalez, Antonio, Jiménez-Sousa, María A., Aguado, José María, Lattig, María Claudia, Taracido-Fernandez, Juan Carlos, Liger Borja, Anabel, López-Rodríguez, Rosario, Mancebo, Esther, Martín-López, Caridad, Martín, Vicente, Martínez-Nieto, Oscar, Martinez-López, Icíar, Martinez-Resendez, Michel F., Amitrano, Sara, Martínez-Pérez, Àngel, Mazzeu, Juliana F, Teper, Alejandro, Merayo Macías, Eleuterio, Mínguez, Pablo, Moreno Cuerda, Víctor, Silbiger, Vivian N., Oliveira, Silviene F., Ortega-Paino, Eva, Parellada, Mara, Roade, Luisa, Paz-Artal, Estela, Santos, Ney P. C., Pérez-Matute, Patricia, Torres-Tobar, Lilian, Pérez Ramírez, Patricia, Pérez-Tomás, M. Elena, Perucho, Teresa, Pinsach-Abuin, Mel Lina, Pompa-Mera, Ericka N., Porras-Hurtado, Gloria L., Fava, Francesca, Pujol, Aurora, Ramiro León, Soraya, Resino, Salvador, Fernandes, Marianne R., Urioste, Miguel, Rodríguez-Ruiz, Emilio, Rodríguez-Artalejo, Fernando, Rodríguez-García, José A, Ruiz Cabello, Francisco, Ruiz-Hornillos, Javier, Spinner, Christoph D., Ryan, Pablo, Soria, José Manuel, Souto, Juan Carlos, Valencia-Ramos, Juan, Yáñez, Zuleima, Zarate, Ruth, Nakanishi, Tomoko, Nevado, Julian, Pigazzini, Sara, Degenhardt, Frauke, Prati, Daniele, Butler-Laporte, Guillaume, Maya-Miles, Douglas, Bujanda, Luis, Bouysran, Youssef, Palom, Adriana, Ellinghaus, David, Martínez-Bueno, Manuel, Rolker, Selina, Bernardo, David, García, Federico, Darcis, Gilles, Fernández-Cadenas, Israel, Calderón, Enrique J., Holter, Jan Cato, Aguilar, Carlos, Banales, Jesús M., Frithiof, Robert, Duga, Stefano, Asselta, Rosanna, Pereira, Alexandre C., Romero-Gómez, Manuel, Nafría-Jiménez, Beatriz, and Hov, Johannes R.

Published
2022

48. Controlled attenuation parameter-insulin resistance (CIR) score to predict non-alcoholic steatohepatitis

Author

Junta de Andalucía, Universidad Carlos III de Madrid, European Commission, Macías Sánchez, Juan, Parra-Membrives, Pablo, Sosa-Moreno, Francisco, Rincón, Pilar, Martínez-Baena, Darío, Fernández-Fuertes, Marta, Lorente-Herce, José M., Martínez, Rafael, Jiménez-Riera, Granada, Corma-Gómez, Anaïs, González-Serna, A., Pineda, Juan A., Real, Luis Miguel, Junta de Andalucía, Universidad Carlos III de Madrid, European Commission, Macías Sánchez, Juan, Parra-Membrives, Pablo, Sosa-Moreno, Francisco, Rincón, Pilar, Martínez-Baena, Darío, Fernández-Fuertes, Marta, Lorente-Herce, José M., Martínez, Rafael, Jiménez-Riera, Granada, Corma-Gómez, Anaïs, González-Serna, A., Pineda, Juan A., and Real, Luis Miguel

Abstract

The diagnosis of non-alcoholic steatohepatitis (NASH) requires liver biopsy. Patients with NASH are at risk of progression to advanced fibrosis and hepatocellular carcinoma. A reliable non-invasive tool for the detection of NASH is needed. We aimed at developing a tool to diagnose NASH based on a predictive model including routine clinical and transient hepatic elastography (TE) data. All subjects undergoing elective cholecystectomy in our center were invited to participate, if alcohol intake was < 30 g/d for men and < 15 g/d for women. TE with controlled attenuation parameter (CAP) was obtained before surgery. A liver biopsy was taken during surgery. Multivariate logistic regression models to predict NASH were constructed with the first 100 patients, the elaboration group, and the results were validated in the next pre-planned 50 patients. Overall, 155 patients underwent liver biopsy. In the elaboration group, independent predictors of NASH were CAP value [adjusted OR (AOR) 1.024, 95% confidence interval (95% CI) 1.002-1.046, p = 0.030] and HOMA value (AOR 1.847, 95% CI 1.203-2.835, p < 0.001). An index derived from the logistic regression equation to identify NASH was designated as the CAP-insulin resistance (CIR) score. The area under the receiver operating characteristic curve (95%CI) of the CIR score was 0.93 (0.87-0.99). Positive (PPV) and negative predictive values (NPV) of the CIR score were 82% and 91%, respectively. In the validation set, PPV was 83% and NPV was 88%. In conclusion, the CIR score, a simple index based on CAP and HOMA, can reliably identify patients with and without NASH.

Published
2022

49. Novel genes and sex differences in COVID-19 severity

Author

Instituto de Salud Carlos III, European Commission, Fundación Amancio Ortega, Banco Santander, Estrella de Levante, Colabora Mujer, Fundación Canaria Instituto de Investigación Sanitaria de Canarias, Cruz Modino, Raquel de la, Diz-de Almeida, Silvia, López de Heredia, Miguel, Quintela, Inés, Ceballos, Francisco C., Pita, Guillermo, Lorenzo-Salazar, José M., González-Montelongo, Rafaela, Gago-Dominguez, Manuela, Sevilla Porras, Marta, Tenorio Castaño, Jair Antonio, Carbonell, Cristina, Migeotte, Isabelle, Renieri, Alessandra, Aguilera-Albesa, Sergio, Planas, Anna M., Ludwig, Kerstin U., Buti, María, Rahmouni, Souad, Alarcón-Riquelme, Marta E., Schulte, Eva C., Tamayo-Velasco, Álvaro, Franke, Andre, Castaño, Luis, Karlsen, Tom H., Valenti, Luca, Zeberg, Hugo, Almadana Pacheco, Virginia, Richards, Brent, Ganna, Andrea, Boada, Mercè, Rojas, Itziar de, Gil-Fournier, Belén, Ruiz, Agustín, Sánchez-Juan, Pascual, Castelao, Jose E., Real, Luis Miguel, SCOURGE Cohort Group, HOSTAGE Cohort Group, GRA@CE Cohort Group, Almoguera, Berta, Guillen-Navarro, Encarna, Ayuso, Carmen, Gómez-Arrue, Javier, González-Neira, Anna, Riancho, José A., Rojas-Martinez, Augusto, Conde-Vicente, Rosa, Flores, Carlos, Lapunzina, Pablo, Carracedo, Ángel, Álvarez, Nuria, Andreu-Bernabeu, Álvaro, Arana-Arri, Eunate, González Álvarez, Beatriz, Arango, Celso, Arranz, Maria J., Artiga, María Jesús, Baptista-Rosas, Raúl C., Cordero-Lorenzana, M. Lourdes, Barreda-Sánchez, María, Belhassen-García, Moncef, Bezerra, Joao F., Bezerra, Marcos A. C., Boix-Palop, Lucía, Gonzalez Bernaldo de Quirós, Fernán, Briones, María, Brugada, Ramón, Bustos, Matilde, Cortés-Sánchez, José L., Cortón, Marta, Darnaude, M. Teresa, Martino-Rodríguez, Alba de, Tamayo, Eduardo, Campo-Pérez, Víctor de, Diaz de Bustamante, Aranzazu, González-Peñas, Javier, Domínguez-Garrido, Elena, Luchessi, Andre D., Eiros, Rocío, Estigarribia Sanabria, Gladys Mercedes, Fariñas, María del Carmen, Fernández-Robelo, Uxía, Fernández-Rodríguez, Amanda, Fernández-Villa, Tania, Gutiérrez-Bautista, Juan F., Herrero, María José, Herrero-Gonzalez, Antonio, Jiménez-Sousa, María A., Aguado, José María, Lattig, María Claudia, Taracido-Fernandez, Juan Carlos, Liger Borja, Anabel, López-Rodríguez, Rosario, Mancebo, Esther, Martín-López, Caridad, Martín, Vicente, Martínez-Nieto, Oscar, Martinez-López, Icíar, Martinez-Resendez, Michel F., Amitrano, Sara, Martínez-Pérez, Àngel, Mazzeu, Juliana F, Teper, Alejandro, Merayo Macías, Eleuterio, Mínguez, Pablo, Moreno Cuerda, Víctor, Silbiger, Vivian N., Oliveira, Silviene F., Ortega-Paino, Eva, Parellada, Mara, Roade, Luisa, Paz-Artal, Estela, Santos, Ney P. C., Pérez-Matute, Patricia, Torres-Tobar, Lilian, Pérez Ramírez, Patricia, Pérez-Tomás, M. Elena, Perucho, Teresa, Pinsach-Abuin, Mel Lina, Pompa-Mera, Ericka N., Porras-Hurtado, Gloria L., Fava, Francesca, Pujol, Aurora, Ramiro León, Soraya, Resino, Salvador, Fernandes, Marianne R., Urioste, Miguel, Rodríguez-Ruiz, Emilio, Rodríguez-Artalejo, Fernando, Rodríguez-García, José A, Ruiz Cabello, Francisco, Ruiz-Hornillos, Javier, Spinner, Christoph D., Ryan, Pablo, Soria, José Manuel, Souto, Juan Carlos, Valencia-Ramos, Juan, Yáñez, Zuleima, Zarate, Ruth, Nakanishi, Tomoko, Nevado, Julian, Pigazzini, Sara, Degenhardt, Frauke, Prati, Daniele, Butler-Laporte, Guillaume, Maya-Miles, Douglas, Bujanda, Luis, Bouysran, Youssef, Palom, Adriana, Ellinghaus, David, Martínez-Bueno, Manuel, Rolker, Selina, Bernardo, David, García, Federico, Darcis, Gilles, Fernández-Cadenas, Israel, Calderón, Enrique J., Holter, Jan Cato, Aguilar, Carlos, Banales, Jesús M., Frithiof, Robert, Duga, Stefano, Asselta, Rosanna, Pereira, Alexandre C., Romero-Gómez, Manuel, Nafría-Jiménez, Beatriz, Hov, Johannes R., Instituto de Salud Carlos III, European Commission, Fundación Amancio Ortega, Banco Santander, Estrella de Levante, Colabora Mujer, Fundación Canaria Instituto de Investigación Sanitaria de Canarias, Cruz Modino, Raquel de la, Diz-de Almeida, Silvia, López de Heredia, Miguel, Quintela, Inés, Ceballos, Francisco C., Pita, Guillermo, Lorenzo-Salazar, José M., González-Montelongo, Rafaela, Gago-Dominguez, Manuela, Sevilla Porras, Marta, Tenorio Castaño, Jair Antonio, Carbonell, Cristina, Migeotte, Isabelle, Renieri, Alessandra, Aguilera-Albesa, Sergio, Planas, Anna M., Ludwig, Kerstin U., Buti, María, Rahmouni, Souad, Alarcón-Riquelme, Marta E., Schulte, Eva C., Tamayo-Velasco, Álvaro, Franke, Andre, Castaño, Luis, Karlsen, Tom H., Valenti, Luca, Zeberg, Hugo, Almadana Pacheco, Virginia, Richards, Brent, Ganna, Andrea, Boada, Mercè, Rojas, Itziar de, Gil-Fournier, Belén, Ruiz, Agustín, Sánchez-Juan, Pascual, Castelao, Jose E., Real, Luis Miguel, SCOURGE Cohort Group, HOSTAGE Cohort Group, GRA@CE Cohort Group, Almoguera, Berta, Guillen-Navarro, Encarna, Ayuso, Carmen, Gómez-Arrue, Javier, González-Neira, Anna, Riancho, José A., Rojas-Martinez, Augusto, Conde-Vicente, Rosa, Flores, Carlos, Lapunzina, Pablo, Carracedo, Ángel, Álvarez, Nuria, Andreu-Bernabeu, Álvaro, Arana-Arri, Eunate, González Álvarez, Beatriz, Arango, Celso, Arranz, Maria J., Artiga, María Jesús, Baptista-Rosas, Raúl C., Cordero-Lorenzana, M. Lourdes, Barreda-Sánchez, María, Belhassen-García, Moncef, Bezerra, Joao F., Bezerra, Marcos A. C., Boix-Palop, Lucía, Gonzalez Bernaldo de Quirós, Fernán, Briones, María, Brugada, Ramón, Bustos, Matilde, Cortés-Sánchez, José L., Cortón, Marta, Darnaude, M. Teresa, Martino-Rodríguez, Alba de, Tamayo, Eduardo, Campo-Pérez, Víctor de, Diaz de Bustamante, Aranzazu, González-Peñas, Javier, Domínguez-Garrido, Elena, Luchessi, Andre D., Eiros, Rocío, Estigarribia Sanabria, Gladys Mercedes, Fariñas, María del Carmen, Fernández-Robelo, Uxía, Fernández-Rodríguez, Amanda, Fernández-Villa, Tania, Gutiérrez-Bautista, Juan F., Herrero, María José, Herrero-Gonzalez, Antonio, Jiménez-Sousa, María A., Aguado, José María, Lattig, María Claudia, Taracido-Fernandez, Juan Carlos, Liger Borja, Anabel, López-Rodríguez, Rosario, Mancebo, Esther, Martín-López, Caridad, Martín, Vicente, Martínez-Nieto, Oscar, Martinez-López, Icíar, Martinez-Resendez, Michel F., Amitrano, Sara, Martínez-Pérez, Àngel, Mazzeu, Juliana F, Teper, Alejandro, Merayo Macías, Eleuterio, Mínguez, Pablo, Moreno Cuerda, Víctor, Silbiger, Vivian N., Oliveira, Silviene F., Ortega-Paino, Eva, Parellada, Mara, Roade, Luisa, Paz-Artal, Estela, Santos, Ney P. C., Pérez-Matute, Patricia, Torres-Tobar, Lilian, Pérez Ramírez, Patricia, Pérez-Tomás, M. Elena, Perucho, Teresa, Pinsach-Abuin, Mel Lina, Pompa-Mera, Ericka N., Porras-Hurtado, Gloria L., Fava, Francesca, Pujol, Aurora, Ramiro León, Soraya, Resino, Salvador, Fernandes, Marianne R., Urioste, Miguel, Rodríguez-Ruiz, Emilio, Rodríguez-Artalejo, Fernando, Rodríguez-García, José A, Ruiz Cabello, Francisco, Ruiz-Hornillos, Javier, Spinner, Christoph D., Ryan, Pablo, Soria, José Manuel, Souto, Juan Carlos, Valencia-Ramos, Juan, Yáñez, Zuleima, Zarate, Ruth, Nakanishi, Tomoko, Nevado, Julian, Pigazzini, Sara, Degenhardt, Frauke, Prati, Daniele, Butler-Laporte, Guillaume, Maya-Miles, Douglas, Bujanda, Luis, Bouysran, Youssef, Palom, Adriana, Ellinghaus, David, Martínez-Bueno, Manuel, Rolker, Selina, Bernardo, David, García, Federico, Darcis, Gilles, Fernández-Cadenas, Israel, Calderón, Enrique J., Holter, Jan Cato, Aguilar, Carlos, Banales, Jesús M., Frithiof, Robert, Duga, Stefano, Asselta, Rosanna, Pereira, Alexandre C., Romero-Gómez, Manuel, Nafría-Jiménez, Beatriz, and Hov, Johannes R.

Abstract

Here, we describe the results of a genome-wide study conducted in 11 939 coronavirus disease 2019 (COVID-19) positive cases with an extensive clinical information that were recruited from 34 hospitals across Spain (SCOURGE consortium). In sex-disaggregated genome-wide association studies for COVID-19 hospitalization, genome-wide significance (P < 5 × 10-8) was crossed for variants in 3p21.31 and 21q22.11 loci only among males (P = 1.3 × 10-22 and P = 8.1 × 10-12, respectively), and for variants in 9q21.32 near TLE1 only among females (P = 4.4 × 10-8). In a second phase, results were combined with an independent Spanish cohort (1598 COVID-19 cases and 1068 population controls), revealing in the overall analysis two novel risk loci in 9p13.3 and 19q13.12, with fine-mapping prioritized variants functionally associated with AQP3 (P = 2.7 × 10-8) and ARHGAP33 (P = 1.3 × 10-8), respectively. The meta-analysis of both phases with four European studies stratified by sex from the Host Genetics Initiative (HGI) confirmed the association of the 3p21.31 and 21q22.11 loci predominantly in males and replicated a recently reported variant in 11p13 (ELF5, P = 4.1 × 10-8). Six of the COVID-19 HGI discovered loci were replicated and an HGI-based genetic risk score predicted the severity strata in SCOURGE. We also found more SNP-heritability and larger heritability differences by age (<60 or ≥60 years) among males than among females. Parallel genome-wide screening of inbreeding depression in SCOURGE also showed an effect of homozygosity in COVID-19 hospitalization and severity and this effect was stronger among older males. In summary, new candidate genes for COVID-19 severity and evidence supporting genetic disparities among sexes are provided.

Published
2022

50. CD46 Genetic Variability and HIV-1 Infection Susceptibility

Author

Serrano Rísquez, Carmen, Omar, Mohamed, Gómez Vidal, María Amparo, Real, Luis Miguel, Pineda Vergara, Juan Antonio, Rivero, Antonio, Caruz, Antonio, Universidad de Sevilla. Departamento de Medicina, Ministerio de Economía, Industria y Competitividad de España SAF2016-80125-R, and Fondo Europeo de Desarrollo Regional

Subjects
HESN, HIV-1, HIV exposed seronegative, complement, CD46
Abstract

CD46 is the main receptor for complement protein C3 and plays an important role in adaptive immune responses. CD46 genetic variants are associated with susceptibility to several infectious and autoimmune diseases. Additionally, CD46 function can be subverted by HIV-1 to evade attack by complement, a strategy shared by viruses of other families. We sought to determine the association between CD46 gene variants and HIV-1 acquired through intravenous drug use (IDU) and sexual routes (n = 823). Study subjects were of European ancestry and were HIV-1 infected (n = 438) or exposed but seronegative (n = 387). Genotyping of the rs2796265 SNP located in the CD46 gene region was done by allele-specific real-time PCR. A meta-analysis merging IDU and sexual cohorts indicates that the minor genotype (CC) was associated with increased resistance to HIV-1 infection OR = 0.2, 95% CI (0.07–0.61), p = 0.004. The HIV-1-protective genotype is correlated with reduced CD46 expression and alterations in the ratio of CD46 mRNA splicing isoforms.

Published
2021

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