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1. Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.

Author

Butler-Laporte, Guillaume, Povysil, Gundula, Kosmicki, Jack, Cirulli, Elizabeth, Drivas, Theodore, Furini, Simone, Saad, Chadi, Schmidt, Axel, Olszewski, Pawel, Korotko, Urszula, Quinodoz, Mathieu, Çelik, Elifnaz, Kundu, Kousik, Walter, Klaudia, Jung, Junghyun, Stockwell, Amy, Sloofman, Laura, Jordan, Daniel, Thompson, Ryan, Del Valle, Diane, Simons, Nicole, Cheng, Esther, Sebra, Robert, Schadt, Eric, Kim-Schulze, Seunghee, Gnjatic, Sacha, Merad, Miriam, Buxbaum, Joseph, Beckmann, Noam, Charney, Alexander, Przychodzen, Bartlomiej, Chang, Timothy, Pottinger, Tess, Shang, Ning, Brand, Fabian, Fava, Francesca, Mari, Francesca, Chwialkowska, Karolina, Niemira, Magdalena, Pula, Szymon, Baillie, J, Stuckey, Alex, Salas, Antonio, Bello, Xabier, Pardo-Seco, Jacobo, Gómez-Carballa, Alberto, Rivero-Calle, Irene, Martinón-Torres, Federico, Ganna, Andrea, Karczewski, Konrad, Veerapen, Kumar, Bourgey, Mathieu, Bourque, Guillaume, Eveleigh, Robert, Forgetta, Vincenzo, Morrison, David, Langlais, David, Lathrop, Mark, Mooser, Vincent, Nakanishi, Tomoko, Frithiof, Robert, Hultström, Michael, Lipcsey, Miklos, Marincevic-Zuniga, Yanara, Nordlund, Jessica, Schiabor Barrett, Kelly, Lee, William, Bolze, Alexandre, White, Simon, Riffle, Stephen, Tanudjaja, Francisco, Sandoval, Efren, Neveux, Iva, Dabe, Shaun, Casadei, Nicolas, Motameny, Susanne, Alaamery, Manal, Massadeh, Salam, Aljawini, Nora, Almutairi, Mansour, Arabi, Yaseen, Alqahtani, Saleh, Al Harthi, Fawz, Almutairi, Amal, Alqubaishi, Fatima, Alotaibi, Sarah, Binowayn, Albandari, Alsolm, Ebtehal, El Bardisy, Hadeel, Fawzy, Mohammad, Cai, Fang, Soranzo, Nicole, Butterworth, Adam, Geschwind, Daniel, Arteaga, Stephanie, Stephens, Alexis, Butte, Manish, Boutros, Paul, Yamaguchi, Takafumi, and Tao, Shu

Subjects
Humans, Exome, Genome-Wide Association Study, COVID-19, Genetic Predisposition to Disease, Toll-Like Receptor 7, SARS-CoV-2
Abstract

Host genetics is a key determinant of COVID-19 outcomes. Previously, the COVID-19 Host Genetics Initiative genome-wide association study used common variants to identify multiple loci associated with COVID-19 outcomes. However, variants with the largest impact on COVID-19 outcomes are expected to be rare in the population. Hence, studying rare variants may provide additional insights into disease susceptibility and pathogenesis, thereby informing therapeutics development. Here, we combined whole-exome and whole-genome sequencing from 21 cohorts across 12 countries and performed rare variant exome-wide burden analyses for COVID-19 outcomes. In an analysis of 5,085 severe disease cases and 571,737 controls, we observed that carrying a rare deleterious variant in the SARS-CoV-2 sensor toll-like receptor TLR7 (on chromosome X) was associated with a 5.3-fold increase in severe disease (95% CI: 2.75-10.05, p = 5.41x10-7). This association was consistent across sexes. These results further support TLR7 as a genetic determinant of severe disease and suggest that larger studies on rare variants influencing COVID-19 outcomes could provide additional insights.

Published
2022

2. Correction: SELP Asp603Asn and severe thrombosis in COVID-19 males

Author

Fallerini, Chiara, Daga, Sergio, Benetti, Elisa, Picchiotti, Nicola, Zguro, Kristina, Catapano, Francesca, Baroni, Virginia, Lanini, Simone, Bucalossi, Alessandro, Marotta, Giuseppe, Colombo, Francesca, Baldassarri, Margherita, Fava, Francesca, Beligni, Giada, Di Sarno, Laura, Alaverdian, Diana, Palmieri, Maria, Croci, Susanna, Isidori, Andrea M., Furini, Simone, Frullanti, Elisa, Renieri, Alessandra, and Mari, Francesca

Published
2023
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5. Chronic consumption of probiotics, oats, and apples has differential effects on postprandial bile acid profile and cardiometabolic disease risk markers compared with an isocaloric control (cornflakes): a randomized trial

Author

Pushpass, Rose-Anna Grace, Alzoufairi, Shouq, Mancini, Andrea, Quilter, Karena, Fava, Francesca, Delaiti, Simone, Vrhovsek, Urska, Christensen, Camilla, Joyce, Susan A., Tuohy, Kieran M., Jackson, Kim G., and Lovegrove, Julie A.

Published
2023
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9. Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients

Author

Mantovani, Stefania, Daga, Sergio, Fallerini, Chiara, Baldassarri, Margherita, Benetti, Elisa, Picchiotti, Nicola, Fava, Francesca, Gallì, Anna, Zibellini, Silvia, Bruttini, Mirella, Palmieri, Maria, Croci, Susanna, Amitrano, Sara, Alaverdian, Diana, Capitani, Katia, Furini, Simone, Mari, Francesca, Meloni, Ilaria, Frullanti, Elisa, Mondelli, Mario U., and Renieri, Alessandra

Published
2022
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10. Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

Author

Fallerini, Chiara, Picchiotti, Nicola, Baldassarri, Margherita, Zguro, Kristina, Daga, Sergio, Fava, Francesca, Benetti, Elisa, Amitrano, Sara, Bruttini, Mirella, Palmieri, Maria, Croci, Susanna, Lista, Mirjam, Beligni, Giada, Valentino, Floriana, Meloni, Ilaria, Tanfoni, Marco, Minnai, Francesca, Colombo, Francesca, Cabri, Enrico, Fratelli, Maddalena, Gabbi, Chiara, Mantovani, Stefania, Frullanti, Elisa, Gori, Marco, Crawley, Francis P., Butler-Laporte, Guillaume, Richards, Brent, Zeberg, Hugo, Lipcsey, Miklos, Hultström, Michael, Ludwig, Kerstin U., Schulte, Eva C., Pairo-Castineira, Erola, Baillie, John Kenneth, Schmidt, Axel, Frithiof, Robert, Mari, Francesca, Renieri, Alessandra, and Furini, Simone

Published
2022
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13. Effects of Diet-Modulated Autologous Fecal Microbiota Transplantation on Weight Regain

Author

Rinott, Ehud, Youngster, Ilan, Yaskolka Meir, Anat, Tsaban, Gal, Zelicha, Hila, Kaplan, Alon, Knights, Dan, Tuohy, Kieran, Fava, Francesca, Scholz, Matthias Uwe, Ziv, Oren, Rubin, Elad, Tirosh, Amir, Rudich, Assaf, Blüher, Matthias, Stumvoll, Michael, Ceglarek, Uta, Clement, Karine, Koren, Omry, Wang, Dong D., Hu, Frank B., Stampfer, Meir J., and Shai, Iris

Published
2021
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15. Successful weight regain attenuation by autologous fecal microbiota transplantation is associated with non-core gut microbiota changes during weight loss; randomized controlled trial

Author

Kamer, Omer, primary, Rinott, Ehud, additional, Tsaban, Gal, additional, Kaplan, Alon, additional, Yaskolka Meir, Anat, additional, Zelicha, Hila, additional, Knights, Dan, additional, Tuohy, Kieran, additional, Fava, Francesca, additional, Uwe Scholz, Matthias, additional, Ziv, Oren, additional, Rubin, Elad, additional, Blüher, Matthias, additional, Stumvoll, Michael, additional, Ceglarek, Uta, additional, Clément, Karine, additional, Koren, Omry, additional, Hu, Frank B., additional, Stampfer, Meir J., additional, Wang, Dong D., additional, Youngster, Ilan, additional, and Shai, Iris, additional

Published
2023
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17. SELP Asp603Asn and severe thrombosis in COVID-19 males

Author

Fallerini, Chiara, Daga, Sergio, Benetti, Elisa, Picchiotti, Nicola, Zguro, Kristina, Catapano, Francesca, Baroni, Virginia, Lanini, Simone, Bucalossi, Alessandro, Marotta, Giuseppe, Colombo, Francesca, Baldassarri, Margherita, Fava, Francesca, Beligni, Giada, Di Sarno, Laura, Alaverdian, Diana, Palmieri, Maria, Croci, Susanna, Isidori, Andrea M., Furini, Simone, Frullanti, Elisa, Renieri, Alessandra, and Mari, Francesca

Published
2021
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18. HLA‐DPB1*13:01 associates with enhanced, and KIR2DS4*001 with diminished protection from developing severe COVID‐19.

Author

Farias, Ticiana D. J., Brugiapaglia, Silvia, Croci, Susanna, Magistroni, Paola, Curcio, Claudia, Zguro, Kristina, Fallerini, Chiara, Fava, Francesca, Pettini, Francesco, Kichula, Katherine M., Pollock, Nicholas R., Font‐Porterias, Neus, Palmer, William H., Marin, Wesley M., Baldassarri, Margherita, Bruttini, Mirella, Hollenbach, Jill A., Hendricks, Audrey E., Meloni, Ilaria, and Novelli, Francesco

Subjects
KILLER cells, T cell receptors, COVID-19, NATURAL immunity, HOSPITAL patients, SARS-CoV-2
Abstract

Extreme polymorphism of HLA and killer‐cell immunoglobulin‐like receptors (KIR) differentiates immune responses across individuals. Additional to T cell receptor interactions, subsets of HLA class I act as ligands for inhibitory and activating KIR, allowing natural killer (NK) cells to detect and kill infected cells. We investigated the impact of HLA and KIR polymorphism on the severity of COVID‐19. High resolution HLA class I and II and KIR genotypes were determined from 403 non‐hospitalized and 1575 hospitalized SARS‐CoV‐2 infected patients from Italy collected in 2020. We observed that possession of the activating KIR2DS4*001 allotype is associated with severe disease, requiring hospitalization (OR = 1.48, 95% CI 1.20–1.85, pc = 0.017), and this effect is greater in individuals homozygous for KIR2DS4*001 (OR = 3.74, 95% CI 1.75–9.29, pc = 0.003). We also observed the HLA class II allotype, HLA‐DPB1*13:01 protects SARS‐CoV‐2 infected patients from severe disease (OR = 0.49, 95% CI 0.33–0.74, pc = 0.019). These association analyses were replicated using logistic regression with sex and age as covariates. Autoantibodies against IFN‐α associated with COVID‐19 severity were detected in 26% of 156 hospitalized patients tested. HLA‐C*08:02 was more frequent in patients with IFN‐α autoantibodies than those without, and KIR3DL1*01502 was only present in patients lacking IFN‐α antibodies. These findings suggest that KIR and HLA polymorphism is integral in determining the clinical outcome following SARS‐CoV‐2 infection, by influencing the course both of innate and adaptive immunity. [ABSTRACT FROM AUTHOR]

Published
2024
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20. Measurement of diet : microbiota intermetabolic syndromeactions relevant to obesity and the metabolic syndrome

Author

Fava, Francesca

Subjects
613.2
Abstract

lean individuals and the impact ofdietary intervention on microbiota, obesity and diet, showed differences in faecal microbiota. Furthermore obese individuals had Molecular characterisation of microbiota and fermentation end-products of lean and obese humans on open recorded diet, and obese humans on saturated fat-rich The human microbiota has recently been implicated in the new obesity metabolic syndrome (MS) biomarkers. epidemic sweeping the world. This thesis explored the gut microbiota of obese and higher faecal short chain fatty acid (SCFA) concentrations (p<0.01, n=13). Additionally, the three groups presented distinct faecal and urine IH-NMR metabolite profiles. C57b16/J mice fed a high fat-diet (HF) for 4 weeks had fewer ceacal Eubacterium rectale/Clostridium coccoides group, Bacteroides-like Mouse Intestinal Bacteria, and Bifidobacterium spp. (p<0.001) compared to standard chow-fed mice. This altered microbiota was concomitant with increased plasma pro-inflammatory cytokine levels, endotoxernia, insulin resistance and obesity. Prebiotic supplementation (oligofructose, 10% wt/wt, 14 weeks) significantly increased caecal bifidobacteria (p<0.001) in HF-fed mice. This was positively correlated with improved MS risk factors. In humans at risk ofMS (n=88), modulating the type and quantity of dietary fat (i.e. saturated vs monounsaturated fat) and carbohydrate (Le. high vs low glycaemic index (GI)) impacted on the gut microbiota. Twenty-four weeks on test diets with increased carbohydrate and reduced fat content, irrespective of dietary GI, increased faecal bifidobacteria (p=O.OOS, p=O.OS2) and decreased fasting glucose (p==O.OlS, p==O.034), total-cholesterol (p=O.032, p==O.023) and LDL-cholesterol (p==O.043, p=O.043). In the high GI group fasting insulin concentrati

Published
2008

24. Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19

Author

Zguro, Kristina, Baldassarri, Margherita, Fava, Francesca, Beligni, Giada, Daga, Sergio, Leoncini, Roberto, Galasso, Lucrezia, Cirianni, Michele, Rusconi, Stefano, Siano, Matteo, Francisci, Daniela, Schiaroli, Elisabetta, Luchi, Sauro, Morelli, Giovanna, Martinelli, Enrico, Girardis, Massimo, Busani, Stefano, Parisi, Saverio Giuseppe, Panese, Sandro, Piscopo, Carmelo, Capasso, Mario, Tacconi, Danilo, Spertilli Raffaelli, Chiara, Giliberti, Annarita, Gori, Giulia, Katsikis, Peter D, Lorubbio, Maria, Calzoni, Paola, Ognibene, Agostino, Bocchia, Monica, Tozzi, Monica, Bucalossi, Alessandro, Marotta, Giuseppe, Furini, Simone, Gen-Covid Multicenter Study, Null, Renieri, Alessandra, Fallerini, Chiara, GEN-COVID Multicenter Study, Mari, Francesca, Bruttini, Mirella, Meloni, Ilaria, Croci, Susanna, Gabriella, Doddato, Serio, VIOLA BIANCA, Mirjam, Lista, Maffeo, Debora, Pasquinelli, Elena, Ludovica, Mercuri, Brunelli, Giulia, Rossella, Tita, Maria Antonietta Mencarelli, LO RIZZO, Caterina, Pinto, ANNA MARIA, Ariani, Francesca, Montagnani, Francesca, Tumbarello, Mario, Ilaria, Rancan, Massimiliano, Fabbiani, Bargagli, Elena, Bergantini, Laura, D'Alessandro, Miriana, Cameli, Paolo, Bennett, David, Federico, Anedda, Simona, Marcantonio, Scolletta, Sabino, Franchi, Federico, Mazzei, MARIA ANTONIETTA, Susanna, Guerrini, Edoardo, Conticini, Cantarini, Luca, Frediani, Bruno, Marco, Feri, Alice, Donati, Raffaele, Scala, Luca, Guidelli, Genni, Spargi, Marta, Corridi, Cesira, Nencioni, Leonardo, Croci, Gian Piero Caldarelli, Davide, Romani, Paolo, Piacentini, Maria, Bandini, Elena, Desanctis, Silvia, Cappelli, Anna, Canaccini, Agnese, Verzuri, Valentina, Anemoli, Manola, Pisani, Alessandro, Pancrazzi, Massimo, Vaghi, Antonella D’Arminio Monforte, Federica Gaia Miraglia, Mondelli, Mario U., Stefania, Mantovani, Raffaele, Bruno, Marco, Vecchia, Marcello, Maffezzoni, Sophie, Venturelli, Andrea, Cossarizza, Andrea, Antinori, Alessandra, Vergori, Arianna, Emiliozzi, Arianna, Gabrieli, Agostino, Riva, Andrea, Tommasi, Pier Giorgio Scotton, Francesca, Andretta, Stefano, Baratti, Renzo, Scaggiante, Francesca, Gatti, Francesco, Castelli, Eugenia, Quiros-Roldan, Melania Degli Antoni, Isabella, Zanella, Matteo della Monica, Roberta, Russo, Immacolata, Andolfo, Achille, Iolascon, Giuseppe, Fiorentino, Massimo, Carella, Marco, Castori, Giuseppe, Merla, Gabriella Maria Squeo, Filippo, Aucella, Pamela, Raggi, Rita, Perna, Matteo, Bassetti, Antonio Di Biagio, Maurizio, Sanguinetti, Luca, Masucci, Alessandra, Guarnaccia, Valente, Serafina, Alex Di Florio, Mandala', Marco, Giorli, Alessia, Salerni, Lorenzo, Patrizia, Zucchi, Pierpaolo, Parravicini, Elisabetta, Menatti, Tullio, Trotta, Ferdinando, Giannattasio, Gabriella, Coiro, Fabio, Lena, Gianluca, Lacerenza, Cristina, Mussini, Luisa, Tavecchia, Lia, Crotti, Gianfranco, Parati, Roberto, Menè, Maurizio, Sanarico, Gori, Marco, Nicola, Picchiotti, Francesco, Raimondi, Alessandra, Stella, Filippo, Biscarini, Tiziana, Bachetti, Maria Teresa La Rovere, Maurizio, Bussotti, Serena, Ludovisi, Katia, Capitani, Chiara, Gabbi, Simona, Dei, Sabrina, Ravaglia, Rosangela, Artuso, Elena, Andreucci, Angelica, Pagliazzi, Erika, Fiorentini, Antonio, Perrella, Francesco, Bianchi, Paola, Bergomi, Emanuele, Catena, Riccardo, Colombo, Paola, Petrocelli, Sarah, Iacopini, Sara, Modica, Silvia, Baroni, Giulia, Micheli, Marco, Falcone, Giusy, Tiseo, Chiara, Barbieri, Tommaso, Matucci, Davide, Grassi, Claudio, Ferri, Franco, Marinangeli, Francesco, Brancati, Antonella, Vincenti, Valentina, Borgo, Stefania, Lombardi, Mirco, Lenzi, Massimo Antonio Di Pietro, Francesca, Vichi, Benedetta, Romanin, Letizia, Attala, Cecilia, Costa, Andrea, Gabbuti, Alessio, Bellucci, Marta, Colaneri, Patrizia, Casprini, Cristoforo, Pomara, Massimiliano, Esposito, Marco Antonio Bellini, Zguro, Kristina, Baldassarri, Margherita, Fava, Francesca, Beligni, Giada, Daga, Sergio, Leoncini, Roberto, Galasso, Lucrezia, Cirianni, Michele, Rusconi, Stefano, Siano, Matteo, Francisci, Daniela, Schiaroli, Elisabetta, Luchi, Sauro, Morelli, Giovanna, Martinelli, Enrico, Girardis, Massimo, Busani, Stefano, Parisi, Saverio Giuseppe, Panese, Sandro, Piscopo, Carmelo, Capasso, Mario, Tacconi, Danilo, Spertilli Raffaelli, Chiara, Giliberti, Annarita, Gori, Giulia, Katsikis, Peter D, Lorubbio, Maria, Calzoni, Paola, Ognibene, Agostino, Bocchia, Monica, Tozzi, Monica, Bucalossi, Alessandro, Marotta, Giuseppe, Furini, Simone, Gen-Covid Multicenter Study, Null, Renieri, Alessandra, Fallerini, Chiara, Gen-Covid Multicenter Study, null, and Immunology

Subjects
Thrombotic Thrombocytopenic, Purpura, Thrombotic Thrombocytopenic, SARS-CoV-2, COVID-19, ADAMTS13, thromboembolism, add-on therapy, ADAMTS13 Protein, ADAM Proteins, Infectious Diseases, SDG 3 - Good Health and Well-being, Virology, von Willebrand Factor, Humans, Purpura
Abstract

Thrombosis of small and large vessels is reported as a key player in COVID-19 severity. However, host genetic determinants of this susceptibility are still unclear. Congenital Thrombotic Thrombocytopenic Purpura is a severe autosomal recessive disorder characterized by uncleaved ultra-large vWF and thrombotic microangiopathy, frequently triggered by infections. Carriers are reported to be asymptomatic. Exome analysis of about 3000 SARS-CoV-2 infected subjects of different severities, belonging to the GEN-COVID cohort, revealed the specific role of vWF cleaving enzyme ADAMTS13 (A disintegrin-like and metalloprotease with thrombospondin type 1 motif, 13). We report here that ultra-rare variants in a heterozygous state lead to a rare form of COVID-19 characterized by hyper-inflammation signs, which segregates in families as an autosomal dominant disorder conditioned by SARS-CoV-2 infection, sex, and age. This has clinical relevance due to the availability of drugs such as Caplacizumab, which inhibits vWF–platelet interaction, and Crizanlizumab, which, by inhibiting P-selectin binding to its ligands, prevents leukocyte recruitment and platelet aggregation at the site of vascular damage.

Published
2022

25. Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

Author

Guillaume, Butler-Laporte, Gundula, Povysil, Kosmicki, Jack A., Cirulli, Elizabeth T., Theodore, Drivas, Furini, Simone, Chadi, Saad, Axel, Schmidt, Pawel, Olszewski, Urszula, Korotko, Mathieu, Quinodoz, Elifnaz, Çelik, Kousik, Kundu, Klaudia, Walter, Junghyun, Jung, Stockwell, Amy D., Sloofman, Laura G., Jordan, Daniel M., Thompson, Ryan C., Diane Del Valle, Nicole, Simons, Esther, Cheng, Robert, Sebra, Schadt, Eric E., Seunghee, Kim-Schulze, Sacha, Gnjatic, Miriam, Merad, Buxbaum, Joseph D., Beckmann, Noam D., Charney, Alexander W., Bartlomiej, Przychodzen, Timothy, Chang, Pottinger, Tess D., Ning, Shang, Fabian, Brand, Fava, Francesca, Mari, Francesca, Karolina, Chwialkowska, Magdalena, Niemira, Szymon, Pula, J Kenneth Baillie, Alex, Stuckey, Antonio, Salas, Xabier, Bello, Jacobo, Pardo-Seco, Alberto, Gómez-Carballa, Irene, Rivero-Calle, Federico, Martinón-Torres, Andrea, Ganna, Karczewski, Konrad J., Kumar, Veerapen, Mathieu, Bourgey, Guillaume, Bourque, Robert JM Eveleigh, Vincenzo, Forgetta, David, Morrison, David, Langlais, Mark, Lathrop, Vincent, Mooser, Tomoko, Nakanishi, Robert, Frithiof, Michael, Hultström, Miklos, Lipcsey, Yanara, Marincevic-Zuniga, Jessica, Nordlund, Schiabor Barrett, Kelly M., William, Lee, Alexandre, Bolze, Simon, White, Stephen, Riffle, Francisco, Tanudjaja, Efren, Sandoval, Iva, Neveux, Shaun, Dabe, Nicolas, Casadei, Susanne, Motameny, Manal, Alaamery, Salam, Massadeh, Nora, Aljawini, Almutairi, Mansour S., Arabi, Yaseen M., Alqahtani, Saleh A., Al Harthi, Fawz S., Amal, Almutairi, Fatima, Alqubaishi, Sarah, Alotaibi, Albandari, Binowayn, Alsolm, Ebtehal A., Hadeel El Bardisy, Mohammad, Fawzy, Fang, Cai, Nicole, Soranzo, Adam, Butterworth, COVID-19 Host Genetics Initiative, DeCOI Host Genetics Group, GEN-COVID Multicenter Study (Italy), Daga, Sergio, Meloni, Ilaria, Mount Sinai Clinical Intelligence Center, GEN-COVID consortium (Spain), Genomicc, Consortium, Japan COVID-19 Task Force, Regeneron Genetics Center, Geschwind, Daniel H., Stephanie, Arteaga, Alexis, Stephens, Butte, Manish J., Boutros, Paul C., Yamaguchi, Takafumi N., Shu, Tao, Stefan, Eng, Timothy, Sanders, Tung, Paul J., Broudy, Michael E., Pan, Yu, Alfredo, Gonzalez, Nikhil, Chavan, Ruth, Johnson, Bogdan, Pasaniuc, Brian, Yaspan, Sandra, Smieszek, Carlo, Rivolta, Stephanie, Bibert, Pierre-Yves, Bochud, Maciej, Dabrowski, Pawel, Zawadzki, Mateusz, Sypniewski, Elżbieta, Kaja, Pajaree, Chariyavilaskul, Voraphoj, Nilaratanakul, Nattiya, Hirankarn, Vorasuk, Shotelersuk, Monnat, Pongpanich, Chureerat, Phokaew, Wanna, Chetruengchai, Katsushi, Tokunaga, Masaya, Sugiyama, Yosuke, Kawai, Takanori, Hasegawa, Tatsuhiko, Naito, Namkoong, Ho, Ryuya, Edahiro, Akinori, Kimura, Seishi, Ogawa, Takanori, Kanai, Koichi, Fukunaga, Yukinori, Okada, Seiya, Imoto, Satoru, Miyano, Serghei, Mangul, Abedalthagafi, Malak S., Hugo, Zeberg, Grzymski, Joseph J., Washington, Nicole L., Stephan, Ossowski, Ludwig, Kerstin U., Schulte, Eva C., Olaf, Riess, Marcin, Moniuszko, Miroslaw, Kwasniewski, Hamdi, Mbarek, Ismail, Said I., Anurag, Verma, Goldstein, David B., Krzysztof, Kiryluk, Renieri, Alessandra, Ferreira, Manuel A. R., J Brent Richards, Butler-Laporte, Guillaume, Povysil, Gundula, Kosmicki, Jack A, Cirulli, Elizabeth T, Drivas, Theodore, Furini, Simone, Saad, Chadi, Schmidt, Axel, Olszewski, Pawel, Korotko, Urszula, Quinodoz, Mathieu, Çelik, Elifnaz, Kundu, Kousik, Walter, Klaudia, Jung, Junghyun, Stockwell, Amy D, Sloofman, Laura G, Jordan, Daniel M, Thompson, Ryan C, Del Valle, Diane, Simons, Nicole, Cheng, Esther, Sebra, Robert, Schadt, Eric E, Kim-Schulze, Seunghee, Gnjatic, Sacha, Merad, Miriam, Buxbaum, Joseph D, Beckmann, Noam D, Charney, Alexander W, Przychodzen, Bartlomiej, Chang, Timothy, Pottinger, Tess D, Shang, Ning, Brand, Fabian, Fava, Francesca, Mari, Francesca, Chwialkowska, Karolina, Niemira, Magdalena, Pula, Szymon, Baillie, J Kenneth, Stuckey, Alex, Salas, Antonio, Bello, Xabier, Pardo-Seco, Jacobo, Gómez-Carballa, Alberto, Rivero-Calle, Irene, Martinón-Torres, Federico, Ganna, Andrea, Karczewski, Konrad J, Veerapen, Kumar, Bourgey, Mathieu, Bourque, Guillaume, Eveleigh, Robert Jm, Forgetta, Vincenzo, Morrison, David, Langlais, David, Lathrop, Mark, Mooser, Vincent, Nakanishi, Tomoko, Frithiof, Robert, Hultström, Michael, Lipcsey, Miklo, Marincevic-Zuniga, Yanara, Nordlund, Jessica, Schiabor Barrett, Kelly M, Lee, William, Bolze, Alexandre, White, Simon, Riffle, Stephen, Tanudjaja, Francisco, Sandoval, Efren, Neveux, Iva, Dabe, Shaun, Casadei, Nicola, Motameny, Susanne, Alaamery, Manal, Massadeh, Salam, Aljawini, Nora, Almutairi, Mansour S, Arabi, Yaseen M, Alqahtani, Saleh A, Al Harthi, Fawz S, Almutairi, Amal, Alqubaishi, Fatima, Alotaibi, Sarah, Binowayn, Albandari, Alsolm, Ebtehal A, El Bardisy, Hadeel, Fawzy, Mohammad, Cai, Fang, Soranzo, Nicole, Butterworth, Adam, Geschwind, Daniel H, Arteaga, Stephanie, Stephens, Alexi, Butte, Manish J, Boutros, Paul C, Yamaguchi, Takafumi N, Tao, Shu, Eng, Stefan, Sanders, Timothy, Tung, Paul J, Broudy, Michael E, Pan, Yu, Gonzalez, Alfredo, Chavan, Nikhil, Johnson, Ruth, Pasaniuc, Bogdan, Yaspan, Brian, Smieszek, Sandra, Rivolta, Carlo, Bibert, Stephanie, Bochud, Pierre-Yve, Dabrowski, Maciej, Zawadzki, Pawel, Sypniewski, Mateusz, Kaja, Elżbieta, Chariyavilaskul, Pajaree, Nilaratanakul, Voraphoj, Hirankarn, Nattiya, Shotelersuk, Vorasuk, Pongpanich, Monnat, Phokaew, Chureerat, Chetruengchai, Wanna, Tokunaga, Katsushi, Sugiyama, Masaya, Kawai, Yosuke, Hasegawa, Takanori, Naito, Tatsuhiko, Namkoong, Ho, Edahiro, Ryuya, Kimura, Akinori, Ogawa, Seishi, Kanai, Takanori, Fukunaga, Koichi, Okada, Yukinori, Imoto, Seiya, Miyano, Satoru, Mangul, Serghei, Abedalthagafi, Malak S, Zeberg, Hugo, Grzymski, Joseph J, Washington, Nicole L, Ossowski, Stephan, Ludwig, Kerstin U, Schulte, Eva C, Riess, Olaf, Moniuszko, Marcin, Kwasniewski, Miroslaw, Mbarek, Hamdi, Ismail, Said I, Verma, Anurag, Goldstein, David B, Kiryluk, Krzysztof, Renieri, Alessandra, Ferreira, Manuel A R, Richards, J Brent, Data Science Genetic Epidemiology Lab, Institute for Molecular Medicine Finland, University of Helsinki, and Helsinki Institute of Life Science HiLIFE

Subjects
Infectious Medicine, Cancer Research, Host genetics is a key determinant of COVID-19 outcomes. Previously, Infektionsmedicin, variants with the largest impact on COVID-19 outcomes are expected to be rare in the population. Hence, p = 5.41x10-7). This association was consistent across sexes. These results further support TLR7 as a genetic determinant of severe disease and suggest that larger studies on rare variants influencing COVID-19 outcomes could provide additional insights, Host genetics is a key determinant of COVID-19 outcomes. Previously, the COVID-19 Host Genetics Initiative genome-wide association study used common variants to identify multiple loci associated with COVID-19 outcomes. However, variants with the largest impact on COVID-19 outcomes are expected to be rare in the population. Hence, studying rare variants may provide additional insights into disease susceptibility and pathogenesis, thereby informing therapeutics development. Here, we combined whole-exome and whole-genome sequencing from 21 cohorts across 12 countries and performed rare variant exome-wide burden analyses for COVID-19 outcomes. In an analysis of 5,085 severe disease cases and 571,737 controls, we observed that carrying a rare deleterious variant in the SARS-CoV-2 sensor toll-like receptor TLR7 (on chromosome X) was associated with a 5.3-fold increase in severe disease (95% CI: 2.75-10.05, p = 5.41x10-7). This association was consistent across sexes. These results further support TLR7 as a genetic determinant of severe disease and suggest that larger studies on rare variants influencing COVID-19 outcomes could provide additional insights, studying rare variants may provide additional insights into disease susceptibility and pathogenesis, Genetics, Humans, Exome, Genetic Predisposition to Disease, Molecular Biology, Genetics (clinical), Ecology, Evolution, Behavior and Systematics, Medicinsk genetik, SARS-CoV-2, we observed that carrying a rare deleterious variant in the SARS-CoV-2 sensor toll-like receptor TLR7 (on chromosome X) was associated with a 5.3-fold increase in severe disease (95% CI: 2.75-10.05, 1184 Genetics, developmental biology, physiology, COVID-19, we combined whole-exome and whole-genome sequencing from 21 cohorts across 12 countries and performed rare variant exome-wide burden analyses for COVID-19 outcomes. In an analysis of 5, 737 controls, Toll-Like Receptor 7, the COVID-19 Host Genetics Initiative genome-wide association study used common variants to identify multiple loci associated with COVID-19 outcomes. However, 085 severe disease cases and 571, thereby informing therapeutics development. Here, Medical Genetics, Genome-Wide Association Study
Abstract

Publisher Copyright: Copyright: © 2022 Butler-Laporte et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Host genetics is a key determinant of COVID-19 outcomes. Previously, the COVID-19 Host Genetics Initiative genome-wide association study used common variants to identify multiple loci associated with COVID-19 outcomes. However, variants with the largest impact on COVID-19 outcomes are expected to be rare in the population. Hence, studying rare variants may provide additional insights into disease susceptibility and pathogenesis, thereby informing therapeutics development. Here, we combined whole-exome and whole-genome sequencing from 21 cohorts across 12 countries and performed rare variant exome-wide burden analyses for COVID-19 outcomes. In an analysis of 5,085 severe disease cases and 571,737 controls, we observed that carrying a rare deleterious variant in the SARS-CoV-2 sensor toll-like receptor TLR7 (on chromosome X) was associated with a 5.3-fold increase in severe disease (95% CI: 2.75–10.05, p = 5.41x10-7). This association was consistent across sexes. These results further support TLR7 as a genetic determinant of severe disease and suggest that larger studies on rare variants influencing COVID-19 outcomes could provide additional insights.

Published
2022

26. Microbial and metabolic characterization of organic artisanal sauerkraut fermentation and study of gut health-promoting properties of sauerkraut brine

Author

Gaudioso, Giulia, primary, Weil, Tobias, additional, Marzorati, Giulia, additional, Solovyev, Pavel, additional, Bontempo, Luana, additional, Franciosi, Elena, additional, Bertoldi, Luigi, additional, Pedrolli, Carlo, additional, Tuohy, Kieran Michael, additional, and Fava, Francesca, additional

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2022
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29. Multiomic analysis reveals cell-type-specific molecular determinants of COVID-19 severity

Author

Zhang, Sai, primary, Cooper-Knock, Johnathan, additional, Weimer, Annika K., additional, Shi, Minyi, additional, Kozhaya, Lina, additional, Unutmaz, Derya, additional, Harvey, Calum, additional, Julian, Thomas H., additional, Furini, Simone, additional, Frullanti, Elisa, additional, Fava, Francesca, additional, Renieri, Alessandra, additional, Gao, Peng, additional, Shen, Xiaotao, additional, Timpanaro, Ilia Sarah, additional, Kenna, Kevin P., additional, Baillie, J. Kenneth, additional, Davis, Mark M., additional, Tsao, Philip S., additional, and Snyder, Michael P., additional

Published
2022
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30. Towards the Identification of a Suitable Commercial Diet for Carpione (Salmo carpio, Linnaeus 1758): A Multidisciplinary Study on Fish Performances, Animal Welfare and Quality Traits

Author

Randazzo, Basilio, primary, Zarantoniello, Matteo, additional, Secci, Giulia, additional, Faccenda, Filippo, additional, Fava, Francesca, additional, Marzorati, Giulia, additional, Belloni, Alessia, additional, Maradonna, Francesca, additional, Orazi, Veronica, additional, Cerri, Roberto, additional, Povinelli, Michele, additional, Parisi, Giuliana, additional, Giorgini, Elisabetta, additional, and Olivotto, Ike, additional

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2022
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31. Natural history of KBG syndrome in a large European cohort

Author

Loberti, Lorenzo, primary, Bruno, Lucia Pia, additional, Granata, Stefania, additional, Doddato, Gabriella, additional, Resciniti, Sara, additional, Fava, Francesca, additional, Carullo, Michele, additional, Rahikkala, Elisa, additional, Jouret, Guillaume, additional, Menke, Leonie A, additional, Lederer, Damien, additional, Vrielynck, Pascal, additional, Ryba, Lukáš, additional, Brunetti-Pierri, Nicola, additional, Lasa-Aranzasti, Amaia, additional, Cueto-González, Anna Maria, additional, Trujillano, Laura, additional, Valenzuela, Irene, additional, Tizzano, Eduardo F, additional, Spinelli, Alessandro Mauro, additional, Bruno, Irene, additional, Currò, Aurora, additional, Stanzial, Franco, additional, Benedicenti, Francesco, additional, Lopergolo, Diego, additional, Santorelli, Filippo Maria, additional, Aristidou, Constantia, additional, Tanteles, George A, additional, Maystadt, Isabelle, additional, Tkemaladze, Tinatin, additional, Reimand, Tiia, additional, Lokke, Helen, additional, Õunap, Katrin, additional, Haanpää, Maria K, additional, Holubová, Andrea, additional, Zoubková, Veronika, additional, Schwarz, Martin, additional, Žordania, Riina, additional, Muru, Kai, additional, Roht, Laura, additional, Tihveräinen, Annika, additional, Teek, Rita, additional, Thomson, Ulvi, additional, Atallah, Isis, additional, Superti-Furga, Andrea, additional, Buoni, Sabrina, additional, Canitano, Roberto, additional, Scandurra, Valeria, additional, Rossetti, Annalisa, additional, Grosso, Salvatore, additional, Battini, Roberta, additional, Baldassarri, Margherita, additional, Mencarelli, Maria Antonietta, additional, Rizzo, Caterina Lo, additional, Bruttini, Mirella, additional, Mari, Francesca, additional, Ariani, Francesca, additional, Renieri, Alessandra, additional, and Pinto, Anna Maria, additional

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2022
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33. Age-dependent impact of the major common genetic risk factor for COVID-19 on severity and mortality

Author

Nakanishi, Tomoko, Pigazzini, Sara, Degenhardt, Frauke, Cordioli, Mattia, Butler-Laporte, Guillaume, Maya-Miles, Douglas, Nafria Jimenez, Beatriz, Bouysran, Youssef, Niemi, Mari, Palom, Adriana, Ellinghaus, David, Khan, Atlas, Martínez-Bueno, Manuel, Rolker, Selina, Amitano, Sara, Roade, Luisa, FinnGen, The COVID-19 Host Genetics Initiative, Fava, Francesca, Spinner, Christoph D., Prati, Daniele, Bernardo, David, García, Federico, Darcis, Gilles, Fernández-Cadenas, Israel, Holter, Jan Cato, Banales, Jesús M., Frithiof, Robert, Kiryluk, Krzysztof, Duga, Stefano, Asselta, Rosanna, Pereira, Alexandre, Romero-Gómez, Manuel, Bujanda, Luis, Hov, Johannes R., Migeotte, Isabelle, Renieri, Alessandra, Planas, Anna M., Ludwig, Kerstin, Buti, María, Rahmouni, Souad, Alarcón-Riquelme, Marta E., Schulte, Eva C., Franke, Andre, Karlsen, Tom H., Valenti, Luca, Zeberg, Hugo, Richards, Brent, Ganna, Andrea, NordForsk, Academy of Finland, Canadian Institutes of Health Research, Lady Davis Institute, Canada Foundation for Innovation, Cancer Research UK, National Institutes of Health (US), Genome Canada, Japan Society for the Promotion of Science, European Commission, Medical Research Council (UK), National Institute for Health Research (UK), Wellcome Trust, German Research Foundation, Federal Ministry of Education and Research (Germany), Instituto de Salud Carlos III, Junta de Andalucía, Columbia University, Università degli Studi di Siena, Ministero della Salute, Consejo Superior de Investigaciones Científicas (España), Swedish Research Council, Technical University of Munich, University of Helsinki, Nakanishi, Tomoko [0000-0001-9510-5646], Pigazzini, Sara [0000-0002-0641-9393], Cordioli, Mattia [0000-0002-4872-0520], Butler-Laporte, Guillaume [0000-0001-5388-0396], Maya-Miles, Douglas [0000-0002-0669-6526], Nafria Jimenez, Beatriz [0000-0002-4698-5680], Bouysran, Youssef [0000-0003-1368-6550], Niemi, Mari [0000-0003-0696-6175], Palom, Adriana [0000-0002-0130-1302], Ellinghaus, David [0000-0002-4332-6110], Khan, Atlas [0000-0002-6651-2725], Martínez-Bueno, Manuel [0000-0002-4333-4487], Roade, Luisa [0000-0002-8160-9613], Fava, Francesca [0000-0002-4363-2353], Spinner, Christoph D. [0000-0002-3875-5367], Prati, Daniele [0000-0002-2281-7498], Bernardo, David [0000-0002-2843-6696], Darcis, Gilles [0000-0001-8192-1351], Fernández-Cadenas, Israel [0000-0003-4821-2363], Holter, Jan Cato [0000-0003-1618-5022], Frithiof, Robert [0000-0003-2278-7951], Kiryluk, Krzysztof [0000-0002-5047-6715], Duga, Stefano [0000-0003-3457-1410], Asselta, Rosanna [0000-0001-5351-0619], Pereira, Alexandre [0000-0002-7782-5540], Romero-Gómez, Manuel [0000-0001-8494-8947], Hov, Johannes R. [0000-0002-5900-8096], Migeotte, Isabelle [0000-0002-8972-8211], Renieri, Alessandra [0000-0002-0846-9220], Planas, Anna M. [0000-0002-6147-1880], Ludwig, Kerstin [0000-0002-8541-2519], Buti, María [0000-0002-0732-3078], Rahmouni, Souad [0000-0003-0956-0242], Alarcón-Riquelme, M. E. [0000-0002-7632-4154], Schulte, Eva C. [0000-0003-3105-5672], Karlsen, Tom H. [0000-0002-8289-9931], Valenti, Luca [0000-0001-8909-0345], Zeberg, Hugo [0000-0001-7118-1249], Richards, Brent [0000-0002-3746-9086], Ganna, Andrea [0000-0002-8147-240X], Junta de Castilla y León, Fundació Glòria Soler, Swedish Kidney Foundation, Research Council of Norway, Nakanishi, Tomoko, Pigazzini, Sara, Cordioli, Mattia, Butler-Laporte, Guillaume, Maya-Miles, Douglas, Nafria Jimenez, Beatriz, Bouysran, Youssef, Niemi, Mari, Palom, Adriana, Ellinghaus, David, Khan, Atlas, Martínez-Bueno, Manuel, Roade, Luisa, Fava, Francesca, Spinner, Christoph D., Prati, Daniele, Bernardo, David, Darcis, Gilles, Fernández-Cadenas, Israel, Holter, Jan Cato, Frithiof, Robert, Kiryluk, Krzysztof, Duga, Stefano, Asselta, Rosanna, Pereira, Alexandre, Romero-Gómez, Manuel, Hov, Johannes R., Migeotte, Isabelle, Renieri, Alessandra, Planas, Anna M., Ludwig, Kerstin, Buti, María, Rahmouni, Souad, Alarcón-Riquelme, M. E., Schulte, Eva C., Karlsen, Tom H., Valenti, Luca, Zeberg, Hugo, Richards, Brent, Ganna, Andrea, Nakanishi, T., Pigazzini, S., Degenhardt, F., Cordioli, M., Butler-Laporte, G., Maya-Miles, D., Bujanda, L., Bouysran, Y., Niemi, M. E. K., Palom, A., Ellinghaus, D., Khan, A., Martinez-Bueno, M., Rolker, S., Amitrano, S., Tato, L. R., Fava, F., Gen, F., Spinner, C. D., Prati, D., Bernardo, D., Garcia, F., Darcis, G., Fernandez-Cadenas, I., Holter, J. C., Banales, J. M., Frithiof, R., Kiryluk, K., Duga, S., Asselta, R., Pereira, A. C., Romero-Gomez, M., Nafria-Jimenez, B., Hov, J. R., Migeotte, I., Renieri, A., Planas, A. M., Ludwig, K. U., Buti, M., Rahmouni, S., Alarcon-Riquelme, M. E., Schulte, E. C., Franke, A., Karlsen, T. H., Valenti, L., Zeberg, H., Richards, J. B., and Ganna, A.

Subjects
Male, Coronavirus disease 2019 (COVID-19), Age dependent, Article, 03 medical and health sciences, 0302 clinical medicine, Genetic, Gene Frequency, Risk Factors, Genetics, Medicine, Humans, Age Factor, Genetic variation, 030212 general & internal medicine, Respiratory system, Alleles, 030304 developmental biology, Aged, Allele, Aged, 80 and over, 0303 health sciences, Polymorphism, Genetic, business.industry, SARS-CoV-2, Risk Factor, Hazard ratio, Age Factors, Patient Acuity, COVID-19, Odds ratio, Covid-19, Genetic Variation, Sciences bio-médicales et agricoles, Middle Aged, COVID-19 (Enfermedad), Confidence interval, 3. Good health, Genetic Loci, Commentary, Female, Chromosomes, Human, Pair 3, Genetic risk factor, business, Venous thromboembolism, Human, Demography
Abstract

AG has received support by NordForsk Nordic Trial Alliance (NTA) grant, by Academy of Finland Fellow grant N. 323116 and the Academy of Finland for PREDICT consortium N. 340541. The Richards research group is supported by the Canadian Institutes of Health Research (CIHR) (365825 and 409511), the Lady Davis Institute of the Jewish General Hospital, the Canadian Foundation for Innovation (CFI), the NIH Foundation, Cancer Research UK, Genome Québec, the Public Health Agency of Canada, the McGill Interdisciplinary Initiative in Infection and Immunity and the Fonds de Recherche Québec Santé (FRQS). TN is supported by a research fellowship of the Japan Society for the Promotion of Science for Young Scientists. GBL is supported by a CIHR scholarship and a joint FRQS and Québec Ministry of Health and Social Services scholarship. JBR is supported by an FRQS Clinical Research Scholarship. Support from Calcul Québec and Compute Canada is acknowledged. TwinsUK is funded by the Welcome Trust, the Medical Research Council, the European Union, the National Institute for Health Research-funded BioResource and the Clinical Research Facility and Biomedical Research Centre based at Guy’s and St. Thomas’ NHS Foundation Trust in partnership with King’s College London. The Biobanque Québec COVID19 is funded by FRQS, Genome Québec and the Public Health Agency of Canada, the McGill Interdisciplinary Initiative in Infection and Immunity and the Fonds de Recherche Québec Santé. These funding agencies had no role in the design, implementation or interpretation of this study. The COVID19-Host(a)ge study received infrastructure support from the DFG Cluster of Excellence 2167 “Precision Medicine in Chronic Inflammation (PMI)” (DFG Grant: “EXC2167”). The COVID19-Host(a)ge study was supported by the German Federal Ministry of Education and Research (BMBF) within the framework of the Computational Life Sciences funding concept (CompLS grant 031L0165). Genotyping in COVID19-Host(a)ge was supported by a philantropic donation from Stein Erik Hagen. The COVID GWAs, Premed COVID-19 study (COVID19-Host(a)ge_3) was supported by "Grupo de Trabajo en Medicina Personalizada contra el COVID-19 de Andalucia"and also by the Instituto de Salud Carlos III (CIBERehd and CIBERER). Funding comes from COVID-19-GWAS, COVID-PREMED initiatives. Both of them are supported by "Consejeria de Salud y Familias" of the Andalusian Government. DMM is currently funded by the the Andalussian government (Proyectos Estratégicos-Fondos Feder PE-0451-2018). The Columbia University Biobank was supported by Columbia University and the National Center for Advancing Translational Sciences, NIH, through Grant Number UL1TR001873. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH or Columbia University. The SPGRX study was supported by the Consejería de Economía, Conocimiento, Empresas y Universidad #CV20-10150. The GEN-COVID study was funded by: the MIUR grant “Dipartimenti di Eccellenza 2018-2020” to the Department of Medical Biotechnologies University of Siena, Italy; the “Intesa San Paolo 2020 charity fund” dedicated to the project NB/2020/0119; and philanthropic donations to the Department of Medical Biotechnologies, University of Siena for the COVID-19 host genetics research project (D.L n.18 of March 17, 2020). Part of this research project is also funded by Tuscany Region “Bando Ricerca COVID-19 Toscana” grant to the Azienda Ospedaliero Universitaria Senese (CUP I49C20000280002). Authors are grateful to: the CINECA consortium for providing computational resources; the Network for Italian Genomes (NIG) (http://www.nig.cineca.it) for its support; the COVID-19 Host Genetics Initiative (https://www.covid19hg.org/); the Genetic Biobank of Siena, member of BBMRI-IT, Telethon Network of Genetic Biobanks (project no. GTB18001), EuroBioBank, and RD-Connect, for managing specimens. Genetics against coronavirus (GENIUS), Humanitas University (COVID19-Host(a)ge_4) was supported by Ricerca Corrente (Italian Ministry of Health), intramural funding (Fondazione Humanitas per la Ricerca). The generous contribution of Banca Intesa San Paolo and of the Dolce&Gabbana Fashion Firm is gratefully acknowledged. Data acquisition and sample processing was supported by COVID-19 Biobank, Fondazione IRCCS Cà Granda Milano; LV group was supported by MyFirst Grant AIRC n.16888, Ricerca Finalizzata Ministero della Salute RF-2016-02364358, Ricerca corrente Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, the European Union (EU) Programme Horizon 2020 (under grant agreement No. 777377) for the project LITMUS- “Liver Investigation: Testing Marker Utility in Steatohepatitis”, Programme “Photonics” under grant agreement “101016726” for the project “REVEAL: Neuronal microscopy for cell behavioural examination and manipulation”, Fondazione Patrimonio Ca’ Granda “Liver Bible” PR-0361. DP was supported by Ricerca corrente Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, CV PREVITAL “Strategie di prevenzione primaria nella popolazione Italiana” Ministero della Salute, and Associazione Italiana per la Prevenzione dell’Epatite Virale (COPEV). Genetic modifiers for COVID-19 related illness (BeLCovid_1) was supported by the "Fonds Erasme". The Host genetics and immune response in SARS-Cov-2 infection (BelCovid_2) study was supported by grants from Fondation Léon Fredericq and from Fonds de la Recherche Scientifique (FNRS). The INMUNGEN-CoV2 study was funded by the Consejo Superior de Investigaciones Científicas. KUL is supported by the German Research Foundation (LU 1944/3-1) SweCovid is funded by the SciLifeLab/KAW national COVID-19 research program project grant to Michael Hultström (KAW 2020.0182) and the Swedish Research Council to Robert Frithiof (2014-02569 and 2014-07606). HZ is supported by Jeansson Stiftelser, Magnus Bergvalls Stiftelse. The COMRI cohort is funded by Technical University of Munich, Munich, Germany. Genotyping for the COMRI cohort was performed and funded by the Genotyping Laboratory of Institute for Molecular Medicine Finland FIMM Technology Centre, University of Helsinki, Helsinki, Finland. These funding agencies had no role in the design, implementation or interpretation of this study., Background: There is considerable variability in COVID-19 outcomes amongst younger adults—and some of this variation may be due to genetic predisposition. We characterized the clinical implications of the major genetic risk factor for COVID-19 severity, and its age-dependent effect, using individual-level data in a large international multi-centre consortium. Method: The major common COVID-19 genetic risk factor is a chromosome 3 locus, tagged by the marker rs10490770. We combined individual level data for 13,424 COVID-19 positive patients (N=6,689 hospitalized) from 17 cohorts in nine countries to assess the association of this genetic marker with mortality, COVID-19-related complications and laboratory values. We next examined if the magnitude of these associations varied by age and were independent from known clinical COVID-19 risk factors. Findings: We found that rs10490770 risk allele carriers experienced an increased risk of all-cause mortality (hazard ratio [HR] 1·4, 95% confidence interval [CI] 1·2–1·6) and COVID-19 related mortality (HR 1·5, 95%CI 1·3–1·8). Risk allele carriers had increased odds of several COVID-19 complications: severe respiratory failure (odds ratio [OR] 2·0, 95%CI 1·6-2·6), venous thromboembolism (OR 1·7, 95%CI 1·2-2·4), and hepatic injury (OR 1·6, 95%CI 1·2-2·0). Risk allele carriers ≤ 60 years had higher odds of death or severe respiratory failure (OR 2·6, 95%CI 1·8-3·9) compared to those > 60 years OR 1·5 (95%CI 1·3-1·9, interaction p-value=0·04). Amongst individuals ≤ 60 years who died or experienced severe respiratory COVID-19 outcome, we found that 31·8% (95%CI 27·6-36·2) were risk variant carriers, compared to 13·9% (95%CI 12·6-15·2%) of those not experiencing these outcomes. Prediction of death or severe respiratory failure among those ≤ 60 years improved when including the risk allele (AUC 0·82 vs 0·84, p=0·016) and the prediction ability of rs10490770 risk allele was similar to, or better than, most established clinical risk factors. Interpretation: The major common COVID-19 risk locus on chromosome 3 is associated with increased risks of morbidity and mortality—and these are more pronounced amongst individuals ≤ 60 years. The effect on COVID-19 severity was similar to, or larger than most established risk factors, suggesting potential implications for clinical risk management., Academy of Finland Fellow grant N. 323116, Academy of Finland for PREDICT consortium N. 340541., Canadian Institutes of Health Research (CIHR) (365825 and 409511), Lady Davis Institute of the Jewish General Hospital, Canadian Foundation for Innovation (CFI), NIH Foundation, Cancer Research UK, Genome Québec, Public Health Agency of Canada, McGill Interdisciplinary Initiative in Infection and Immunity and the Fonds de Recherche Québec Santé (FRQS), Japan Society for the Promotion of Science for Young Scientists, CIHR scholarship and a joint FRQS and Québec Ministry of Health and Social Services scholarship, FRQS Clinical Research Scholarship, Calcul Québec, Compute Canada, Welcome Trust, Medical Research Counc, European Union, National Institute for Health Research-funded BioResource, Clinical Research Facility and Biomedical Research Centre based at Guy’s and St. Thomas’ NHS Foundation Trust, King’s College London, McGill Interdisciplinary Initiative in Infection and Immunity, Fonds de Recherche Québec Santé, (DFG Grant: “EXC2167”), (CompLS grant 031L0165), Stein Erik Hagen, "Grupo de Trabajo en Medicina Personalizada contra el COVID-19 de Andalucia", Instituto de Salud Carlos III (CIBERehd and CIBERER), COVID-19-GWAS, COVID-PREMED initiatives, "Consejeria de Salud y Familias" of the Andalusian Government, Andalusian government (Proyectos Estratégicos-Fondos Feder PE-0451-2018), Columbia University, National Center for Advancing Translational Sciences, NIH Grant Number UL1TR001873, Consejería de Economía, Conocimiento, Empresas y Universidad #CV20-10150, MIUR grant “Dipartimenti di Eccellenza 2018-2020”, “Intesa San Paolo 2020 charity fund” dedicated to the project NB/2020/0119, Tuscany Region “Bando Ricerca COVID-19 Toscana”, CINECA consortium, Network for Italian Genomes (NIG), COVID-19 Host Genetics Initiative, Genetic Biobank of Siena, EuroBioBank, RD-Connect, Ricerca Corrente (Italian Ministry of Health), Fondazione Humanitas per la Ricerca, Banca Intesa San Paolo, Dolce&Gabbana Fashion Firm, COVID-19 Biobank, Fondazione IRCCS Cà Granda Milano, MyFirst Grant AIRC n.16888, Ricerca Finalizzata Ministero della Salute RF-2016-02364358, Ricerca corrente Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, European Union (EU) Programme Horizon 2020 (under grant agreement No. 777377), “Photonics” “101016726”, Fondazione Patrimonio Ca’ Granda “Liver Bible” PR-0361, CV PREVITAL “Strategie di prevenzione primaria nella popolazione Italiana” Ministero della Salute, and Associazione Italiana per la Prevenzione dell’Epatite Virale (COPEV), "Fonds Erasme", Fondation Léon Fredericq, Fonds de la Recherche Scientifique (FNRS), Consejo Superior de Investigaciones Científicas, German Research Foundation (LU 1944/3-1), SciLifeLab/KAW national COVID-19 research program project (KAW 2020.0182), Swedish Research Council (2014-02569 and 2014-07606), Jeansson Stiftelser, Magnus Bergvalls Stiftelse, Technical University of Munich, Munich, Germany, Genotyping Laboratory of Institute for Molecular Medicine Finland FIMM Technology Centre, University of Helsinki, Helsinki, Finland

Published
2021

34. Growth and Welfare of Rainbow Trout (Oncorhynchus mykiss) in Response to Graded Levels of Insect and Poultry By-Product Meals in Fishmeal-Free Diets

Author

Cardinaletti, Gloriana, primary, Di Marco, Patrizia, additional, Daniso, Enrico, additional, Messina, Maria, additional, Donadelli, Valeria, additional, Finoia, Maria Grazia, additional, Petochi, Tommaso, additional, Fava, Francesca, additional, Faccenda, Filippo, additional, Contò, Michela, additional, Cerri, Roberto, additional, Volpatti, Donatella, additional, Bulfon, Chiara, additional, Mandich, Alberta, additional, Longobardi, Alessandro, additional, Marino, Giovanna, additional, Pulido-Rodriguez, Lina Fernanda, additional, Parisi, Giuliana, additional, and Tibaldi, Emilio, additional

Published
2022
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35. 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, 0000-0002-6964-8898, 0000-0001-7463-2148, 0000-0002-3166-5086, 0000-0003-1374-0756, 0000-0001-9510-5646, 0000-0001-7516-3179, 0000-0001-5388-0396, 0000-0002-3875-5367, 0000-0003-3818-0871, 0000-0002-8541-2519, 0000-0003-3765-6778, Institut Català de la Salut, [Cruz R] Centro Nacional de Genotipado (CEGEN), Universidade de Santiago de Compostela, Santiago de Compostela, Spain. Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. Instituto de Investigación Sanitaria de Santiago (IDIS), Santiago de Compostela, Spain. Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain. [Diz-de Almeida S] Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain. [López de Heredia M] Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. [Quintela I] Centro Nacional de Genotipado (CEGEN), Universidade de Santiago de Compostela, Santiago de Compostela, Spain. [Ceballos FC] Unidad de Infección Viral e Inmunidad, Centro Nacional de Microbiología (CNM), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. [Pita G] Spanish National Cancer Research Centre, Human Genotyping-CEGEN Unit, Madrid, Spain. [Palom A] Unitat Hepàtica, Servei de Medicina Interna, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Departament de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain. Grup de Recerca de les Malalties Hepàtiques, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Buti M] Centre for Biomedical Network Research on Hepatic and Digestive Diseases (CIBEREHD), Instituto de Salud Carlos III, Madrid, Spain. Unitat Hepàtica, Servei de Medicina Interna, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Departament de Medicina, Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus, Universidad de Cantabria, SCOURGE Cohort Group, HOSTAGE Cohort Group, GRA@CE Cohort Group, Instituto de Salud Carlos III, Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF), Fundación Amancio Ortega, Banco Santander, Estrella de Levante, Fundación La Caixa, Agencia Estatal de Investigación (España), Cabildo Insular de Tenerife (España), Fundación Canaria de Investigación Sanitaria, Institute for Molecular Medicine Finland, University of Helsinki, Data Science Genetic Epidemiology Lab, European Commission, Colabora Mujer, Fundación Canaria Instituto de Investigación Sanitaria de Canarias, and Gobierno de Canarias (España)

Subjects
INTERFERON, EXPRESSION, Male, Settore MED/09 - Medicina Interna, COVID-19 (Malaltia) - Aspectes genètics, GENETICS, Genetic Phenomena::Genotype::Genetic Predisposition to Disease [PHENOMENA AND PROCESSES], Diàtesi, AUTOZYGOSITY, Polymorphism, Single Nucleotide, fenómenos fisiológicos reproductivos y urinarios::fenómenos fisiológicos de la reproducción::características sexuales [FENÓMENOS Y PROCESOS], Genetics, virosis::infecciones por virus ARN::infecciones por Nidovirales::infecciones por Coronaviridae::infecciones por Coronavirus [ENFERMEDADES], Humans, Genetic Predisposition to Disease, HOMOZYGOSITY, Reproductive and Urinary Physiological Phenomena::Reproductive Physiological Phenomena::Sex Characteristics [PHENOMENA AND PROCESSES], Molecular Biology, Genetics (clinical), Malalties - Factors sexuals, fenómenos genéticos::genotipo::predisposición genética a la enfermedad [FENÓMENOS Y PROCESOS], Sex Characteristics, RANGE, ANDROGEN RECEPTOR, COVID-19, RUNS, Virus Diseases::RNA Virus Infections::Nidovirales Infections::Coronaviridae Infections::Coronavirus Infections [DISEASES], ASSOCIATION, General Medicine, Middle Aged, Genetic Loci, 1182 Biochemistry, cell and molecular biology, Female, LUNG, Genome-Wide Association Study
Abstract

Here, we describe the results of a genome-wide study conducted in 11939 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= 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., Instituto de Salud Carlos III European Commission COV20_00622 COV20/00792 COV20_00181 COV20_1144 PI20/00876, European Union (ERDF) 'A way of making Europe', Fundacion Amancio Ortega, Banco de Santander, Estrella de Levante S.A., Colabora Mujer Association, La Caixa Foundation, Agencia Estatal de Investigacion RTC-2017-6471-1, Cabildo Insular de Tenerife (Apuestas cientificas del ITER para colaborar en la lucha contra la COVID-19) CGIEU0000219140, Fundacion Canaria Instituto de Investigacion Sanitaria de Canarias PIFIISC20/57

Published
2022

36. Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research

Author

Daga, Sergio, Fallerini, Chiara, Baldassarri, Margherita, Fava, Francesca, Valentino, Floriana, Doddato, Gabriella, Benetti, Elisa, Furini, Simone, Giliberti, Annarita, Tita, Rossella, Amitrano, Sara, Bruttini, Mirella, Meloni, Ilaria, Pinto, Anna Maria, Raimondi, Francesco, Stella, Alessandra, Biscarini, Filippo, Picchiotti, Nicola, Gori, Marco, Pinoli, Pietro, Ceri, Stefano, Sanarico, Maurizio, Crawley, Francis P, Birolo, Giovanni, Renieri, Alessandra, Mari, Francesca, Frullanti, Elisa, Francesca, Montagnani2, Laura Di Sarno1, 2, Andrea, Tommasi1, 2, 3, Maria, Palmieri1, Susanna, Croci1, Arianna, Emiliozzi2, Massimiliano, Fabbiani14, Barbara, Rossetti14, Giacomo, Zanelli2, Laura, Bergantini15, Miriana, D’Alessandro15, Paolo, Cameli15, David, Bennett15, Federico, Anedda16, Simona, Marcantonio16, Sabino, Scolletta16, Federico, Franchi16, Maria Antonietta Mazzei17, Susanna, Guerrini17, Edoardo, Conticini18, Luca, Cantarini18, Bruno, Frediani18, Danilo, Tacconi19, Chiara, Spertilli19, Marco, Feri20, Alice, Donati20, Raffaele, Scala21, Luca, Guidelli21, Genni, Spargi22, Marta, Corridi22, Cesira, Nencioni23, Leonardo, Croci23, Gian Piero Caldarelli24, Maurizio, Spagnesi25, Paolo, Piacentini25, Maria, Bandini25, Elena, Desanctis25, Silvia, Cappelli25, Anna, Canaccini26, Agnese, Verzuri26, Valentina, Anemoli26, Agostino, Ognibene27, Massimo, Vaghi28, Antonella D’Arminio Monforte29, Esther, Merlini29, Mondelli30, Mario U., Stefania, Mantovani30, Serena, Ludovisi30, Massimo, Girardis32, Sophie, Venturelli32, Marco, Sita32, Andrea, Cossarizza33, Andrea, Antinori34, Alessandra, Vergori34, Stefano, Rusconi35, Matteo, Siano36, Arianna, Gabrieli36, Agostino, Riva35, Daniela, Francisci37, Elisabetta, Schiaroli37, Pier Giorgio Scotton39, Francesca, Andretta39, Sandro, Panese40, Renzo, Scaggiante41, Francesca, Gatti41, Saverio Giuseppe Parisi42, Francesco, Castelli43, Maria Eugenia Quiros-Roldan43, Paola, Magro43, Isabella, Zanella44, Matteo Della Monica45, Carmelo, Piscopo45, Mario, Capasso46, 47, 48, Roberta, Russo46, Immacolata, Andolfo46, Achille Iolascon 46, Giuseppe, Fiorentino, Massimo, Carella, Marco, Castori50, Giuseppe, Merla50, Filippo, Aucella51, Pamela, Raggi52, Carmen, Marciano52, Rita, Perna52, Bassetti, Matteo, DI BIAGIO, Antonio, Maurizio, Sanguinetti55, Luca, Masucci55, Chiara, Gabbi57, Serafina, Valente58, Ilaria, Meloni1, Maria Antonietta Mencarelli3, Caterina Lo Rizzo3, Elena, Bargagli15, Marco, Mandalà59, Alessia, Giorli59, Lorenzo, Salerni59, Patrizia, Zucchi60, Pierpaolo, Parravicini60, Elisabetta, Menatti61, Stefano, Baratti62, Tullio, Trotta63, Ferdinando, Giannattasio63, Gabriella, Coiro63, Fabio, Lena64, Coviello65, Domenico A., Cristina, Mussini66, Giancarlo, Bosio, Sandro, Mancarella68, Luisa, Tavecchia68., University of Siena (University of Siena), ANR-19-P3IA-0002,3IA@cote d'azur,3IA Côte d'Azur(2019), Daga, S., Fallerini, C., Baldassarri, M., Fava, F., Valentino, F., Doddato, G., Benetti, E., Furini, S., Giliberti, A., Tita, R., Amitrano, S., Bruttini, M., Meloni, I., Pinto, A. M., Raimondi, F., Stella, A., Biscarini, F., Picchiotti, N., Gori, M., Pinoli, P., Ceri, S., Sanarico, M., Crawley, F. P., Birolo, G., Montagnani, F., Di Sarno, L., Tommasi, A., Palmieri, M., Croci, S., Emiliozzi, A., Fabbiani, M., Rossetti, B., Zanelli, G., Bergantini, L., D'Alessandro, M., Cameli, P., Bennet, D., Anedda, F., Marcantonio, S., Scolletta, S., Franchi, F., Mazzei, M. A., Guerrini, S., Conticini, E., Cantarini, L., Frediani, B., Tacconi, D., Spertilli, C., Feri, M., Donati, A., Scala, R., Guidelli, L., Spargi, G., Corridi, M., Nencioni, C., Croci, L., Caldarelli, G. P., Spagnesi, M., Piacentini, P., Bandini, M., Desanctis, E., Cappelli, S., Canaccini, A., Verzuri, A., Anemoli, V., Ognibene, A., Vaghi, M., D'Arminio Monforte, A., Merlini, E., Mondelli, M. U., Mantovani, S., Ludovisi, S., Girardis, M., Venturelli, S., Sita, M., Cossarizza, A., Antinori, A., Vergori, A., Rusconi, S., Siano, M., Gabrieli, A., Riva, A., Francisci, D., Schiaroli, E., Scotton, P. G., Andretta, F., Panese, S., Scaggiante, R., Gatti, F., Parisi, S. G., Castelli, F., Quiros-Roldan, M. E., Magro, P., Zanella, I., Della Monica, M., Piscopo, C., Capasso, M., Russo, R., Andolfo, I., Iolascon, A., Fiorentino, G., Carella, M., Castori, M., Merla, G., Aucella, F., Raggi, P., Marciano, C., Perna, R., Bassetti, M., Di Biagio, A., Sanguinetti, M., Masucci, L., Gabbi, C., Valente, S., Mencarelli, M. A., Rizzo, C. L., Bargagli, E., Mandala, M., Giorli, A., Salerni, L., Zucchi, P., Parravicini, P., Menatti, E., Baratti, S., Trotta, T., Giannattasio, F., Coiro, G., Lena, F., Coviello, D. A., Mussini, C., Bosio, G., Mancarella, S., Tavecchia, L., Renieri, A., Mari, F., Frullanti, E., Daga, Sergio, Fallerini, Chiara, Baldassarri, Margherita, Fava, Francesca, Valentino, Floriana, Doddato, Gabriella, Benetti, Elisa, Furini, Simone, Giliberti, Annarita, Tita, Rossella, Amitrano, Sara, Bruttini, Mirella, Meloni, Ilaria, Pinto, Anna Maria, Raimondi, Francesco, Stella, Alessandra, Biscarini, Filippo, Picchiotti, Nicola, Gori, Marco, Pinoli, Pietro, Ceri, Stefano, Sanarico, Maurizio, Crawley, Francis P., Birolo, Giovanni, Renieri, Alessandra, Mari, Francesca, and Frullanti, Elisa

Subjects
0301 basic medicine, Registrie, Male, [INFO.INFO-AI]Computer Science [cs]/Artificial Intelligence [cs.AI], 0302 clinical medicine, biobanking, Hyposmia, Biological Specimen Bank, Genetics research, Genetics(clinical), genetics, Registries, Genetics (clinical), Exome sequencing, Whole blood, Biological Specimen Banks, 0303 health sciences, education.field_of_study, Biobank, 3. Good health, SNP genotyping, medicine.anatomical_structure, Italy, clinical data, Female, medicine.symptom, Pancreas, Human, Adult, medicine.medical_specialty, Adolescent, Population, Settore BIO/11 - Biologia Molecolare, COVID-19, Humans, Genetic Predisposition to Disease, SARS-CoV-2, Specimen Handling, Asymptomatic, Article, 03 medical and health sciences, Text mining, Internal medicine, medicine, education, 030304 developmental biology, business.industry, snp, medicine.disease, 030104 developmental biology, genotyping, Viral infection, biobanking, COVID-19, genetics, business, Cytokine storm, 030217 neurology & neurosurgery, exome
Abstract

Within the GEN-COVID Multicenter Study, biospecimens from more than 1,000 SARS-CoV-2-positive individuals have thus far been collected in the GEN-COVID Biobank (GCB). Sample types include whole blood, plasma, serum, leukocytes, and DNA. The GCB links samples to detailed clinical data available in the GEN-COVID Patient Registry (GCPR). It includes hospitalized patients (74.25%), broken down into intubated, treated by CPAP-biPAP, treated with O2 supplementation, and without respiratory support (9.5%, 18.4%, 31.55% and 14.8, respectively); and non-hospitalized subjects (25.75%), either pauci- or asymptomatic. More than 150 clinical patient-level data fields have been collected and binarized for further statistics according to the organs/systems primarily affected by COVID-19: heart, liver, pancreas, kidney, chemosensors, innate or adaptive immunity, and clotting system. Hierarchical Clustering analysis identified five main clinical categories: i) severe multisystemic failure with either thromboembolic or pancreatic variant; ii) cytokine storm type, either severe with liver involvement or moderate; iii) moderate heart type, either with or without liver damage; iv) moderate multisystemic involvement, either with or without liver damage; v) mild, either with or without hyposmia. GCB and GCPR are further linked to the GEN-COVID Genetic Data Repository (GCGDR), which includes data from Whole Exome Sequencing and high-density SNP genotyping. The data are available for sharing through the Network for Italian Genomes, found within the COVID-19 dedicated section. The study objective is to systematize this comprehensive data collection and begin identifying multi-organ involvement in COVID-19, defining genetic parameters for infection susceptibility within the population and mapping genetically COVID-19 severity and clinical complexity among patients.

Published
2021

38. An explainable model of host genetic interactions linked to COVID-19 severity

Author

Onoja, Anthony, primary, Picchiotti, Nicola, additional, Fallerini, Chiara, additional, Baldassarri, Margherita, additional, Fava, Francesca, additional, Study, GEN-COVID Multicenter, additional, Colombo, Francesca, additional, Chiaromonte, Francesca, additional, Renieri, Alessandra, additional, Furini, Simone, additional, and Raimondi, Francesco, additional

Published
2022
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39. Ex Vivo Fecal Fermentation of Human Ileal Fluid Collected After Wild Strawberry Consumption Modulates Human Microbiome Community Structure and Metabolic Output and Protects Against DNA Damage in Colonic Epithelial Cells

Author

Diotallevi, Camilla, primary, Fontana, Massimiliano, additional, Latimer, Cheryl, additional, Ternan, Nigel G., additional, Pourshahidi, L. Kirsty, additional, Lawther, Roger, additional, O'Connor, Gloria, additional, Conterno, Lorenza, additional, Gasperotti, Mattia, additional, Angeli, Andrea, additional, Lotti, Cesare, additional, Bianchi, Martina, additional, Vrhovsek, Urska, additional, Fava, Francesca, additional, Gobbetti, Marco, additional, Gill, Chris I. R., additional, and Tuohy, Kieran M., additional

Published
2021
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40. New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing

Author

Bruno, Lucia Pia, primary, Doddato, Gabriella, additional, Valentino, Floriana, additional, Baldassarri, Margherita, additional, Tita, Rossella, additional, Fallerini, Chiara, additional, Bruttini, Mirella, additional, Lo Rizzo, Caterina, additional, Mencarelli, Maria Antonietta, additional, Mari, Francesca, additional, Pinto, Anna Maria, additional, Fava, Francesca, additional, Fabbiani, Alessandra, additional, Lamacchia, Vittoria, additional, Carrer, Anna, additional, Caputo, Valentina, additional, Granata, Stefania, additional, Benetti, Elisa, additional, Zguro, Kristina, additional, Furini, Simone, additional, Renieri, Alessandra, additional, and Ariani, Francesca, additional

Published
2021
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42. Identification of a Novel Pathogenic Variant in the NAGLU Gene in a Child with Neurodevelopmental Delay

Author

Bruno, Lucia Pia, primary, Fava, Francesca, additional, Baldassarri, Margherita, additional, Salvati, Virginia M., additional, Scandurra, Valeria, additional, Canitano, Roberto, additional, Valentino, Floriana, additional, Doddato, Gabriella, additional, Tita, Rossella, additional, Giliberti, Annarita, additional, Renieri, Alessandra, additional, and Ariani, Francesca, additional

Published
2021
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43. Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity

Author

Fallerini, Chiara, Picchiotti, Nicola, Baldassarri, Margherita, Zguro, Kristina, Daga, Sergio, Fava, Francesca, Benetti, Elisa, Amitrano, Sara, Bruttini, Mirella, Palmieri, Maria, Croci, Susanna, Lista, Mirjam, Beligni, Giada, Valentino, Floriana, Meloni, Ilaria, Tanfoni, Marco, Minnai, Francesca, Colombo, Francesca, Cabri, Enrico, Fratelli, Maddalena, Gabbi, Chiara, Mantovani, Stefania, Frullanti, Elisa, Gori, Marco, Crawley, Francis P, Butler-Laporte, Guillaume, Richards, Brent, Zeberg, Hugo, Lipcsey, Miklos, Hultström, Michael, Ludwig, Kerstin U, Schulte, Eva C, Pairo-Castineira, Erola, Baillie, John Kenneth, Schmidt, Axel, Frithiof, Robert, Mari, Francesca, Renieri, Alessandra, Furini, Simone Simone Furini, Francesca, Montagnani, Mario, Tumbarello, Ilaria, Rancan, Massimiliano, Fabbiani, Barbara, Rossetti, Laura, Bergantini, Miriana, D'Alessandro, Paolo, Cameli, David, Bennett, Federico, Anedda, Simona, Marcantonio, Sabino, Scolletta, Federico, Franchi, Maria Antonietta Mazzei, Susanna, Guerrini, Edoardo, Conticini, Luca, Cantarini, Bruno, Frediani, Danilo, Tacconi, Chiara Spertilli Raffaelli, Marco, Feri, Alice, Donati, Raffaele, Scala, Luca, Guidelli, Genni, Spargi, Marta, Corridi, Cesira, Nencioni, Leonardo, Croci, Gian Piero Caldarelli, Maurizio, Spagnesi, Davide, Romani, Paolo, Piacentini, Maria, Bandini, Elena, Desanctis, Silvia, Cappelli, Anna, Canaccini, Agnese, Verzuri, Valentina, Anemoli, Manola, Pisani, Agostino, Ognibene, Alessandro, Pancrazzi, Maria, Lorubbio, Massimo, Vaghi, Antonella, D 'Arminio Monforte, Federica Gaia Miraglia, Mario, U Mondelli, Massimo, Girardis, Sophie, Venturelli, Stefano, Busani, Andrea, Cossarizza, Andrea, Antinori, Alessandra, Vergori, Arianna, Emiliozzi, Stefano, Rusconi, Matteo, Siano, Arianna, Gabrieli, Agostino, Riva, Daniela, Francisci, Elisabetta, Schiaroli, Francesco, Paciosi, Andrea, Tommasi, Pier Giorgio Scotton, Francesca, Andretta, Sandro, Panese, Stefano, Baratti, Renzo, Scaggiante, Francesca, Gatti, Saverio Giuseppe Parisi, Francesco, Castelli, Eugenia, Quiros-Roldan, Melania Degli Antoni, Isabella, Zanella, Matteo Della Monica, Carmelo, Piscopo, Mario, Capasso, Roberta, Russo, Immacolata, Andolfo, Achille, Iolascon, Giuseppe, Fiorentino, Massimo, Carella, Marco, Castori, Filippo, Aucella, Pamela, Raggi, Rita, Perna, Matteo, Bassetti, Antonio Di Biagio, Maurizio, Sanguinetti, Luca, Masucci, Alessandra, Guarnaccia, Serafina, Valente, Oreste De Vivo, Gabriella, Doddato, Rossella, Tita, Annarita, Giliberti, Maria Antonietta Mencarelli, Caterina Lo Rizzo, Anna Maria Pinto, Valentina, Perticaroli, Francesca, Ariani, Miriam Lucia Carriero, Laura Di Sarno, Diana, Alaverdian, Elena, Bargagli, Marco, Mandalà, Alessia, Giorli, Lorenzo, Salerni, Patrizia, Zucchi, Pierpaolo, Parravicini, Elisabetta, Menatti, Tullio, Trotta, Ferdinando, Giannattasio, Gabriella, Coiro, Fabio, Lena, Leonardo Gianluca Lacerenza, Domenico, A Coviello, Cristina, Mussini, Enrico, Martinelli, Sandro, Mancarella, Luisa, Tavecchia, Mary Ann Belli, Lia, Crotti, Gianfranco, Parati, Maurizio, Sanarico, Francesco, Raimondi, Filippo, Biscarini, Alessandra, Stella, Marco, Rizzi, Franco, Maggiolo, Diego, Ripamonti, Claudia, Suardi, Tiziana, Bachetti, Maria Teresa La Rovere, Simona, Sarzi-Braga, Maurizio, Bussotti, Katia, Capitani, Simona, Dei, Sabrina, Ravaglia, Rosangela, Artuso, Elena, Andreucci, Giulia, Gori, Angelica, Pagliazzi, Erika, Fiorentini, Antonio, Perrella, Francesco, Bianchi, Paola, Bergomi, Emanuele, Catena, Riccardo, Colombo, Sauro, Luchi, Giovanna, Morelli, Paola, Petrocelli, Sarah, Iacopini, Sara, Modica, Silvia, Baroni, Francesco Vladimiro Segala, Francesco, Menichetti, Marco, Falcone, Giusy, Tiseo, Chiara, Barbieri, Tommaso, Matucci, Grassi, Davide, Ferri, Claudio, Marinangeli, Franco, Brancati, Francesco, Antonella, Vincenti, Valentina, Borgo, Lombardi, Stefania, Mirco, Lenzi, Massimo Antonio Di Pietro, Francesca, Vichi, Benedetta, Romanin, Letizia, Attala, Cecilia, Costa, Andrea, Gabbuti, Menè, Roberto, Umberto, Zuccon, Lucia, Vietri, Stefano, Ceri, Pietro, Pinoli, Patrizia, Casprini, Giuseppe, Merla, Gabriella Maria Squeo, Marcello, Maffezzoni, Raffaele, Bruno, Marco, Vecchia, Marta, Colaneri, Serena, Ludovisi, Yanara, Marincevic-Zuniga, Jessica, Nordlund, Tomas, Luther, Anders, Larsson, Katja Hanslin Anna Gradin, Sarah, Galien, Sara Bulow Anderberg, Jacob, Rosén, Sten, Rubertsson, Hugo, Zeberg, Robert, Frithiof, Miklós, Lipcsey, Michael, Hultström, Sara Clohisey Peter Horby, Johnny, Millar, Julian, Knight, Hugh, Montgomery, David, Maslove, Lowell, Ling, Alistair, Nichol, Charlotte, Summers, Tim, Walsh, Charles, Hinds, Malcolm, G Semple, Peter J, M Openshaw, Manu, Shankar-Hari, Antonia, Ho, Danny, Mcauley, Chris, Ponting, Kathy, Rowan, J Kenneth Baillie, Fiona, Griffiths, Wilna, Oosthuyzen, Jen, Meikle, Paul, Finernan, James, Furniss, Ellie, Mcmaster, Andy, Law, Sara, Clohisey, Trevor, Paterson, Tony, Wackett, Ruth, Armstrong, Lee, Murphy, Angie, Fawkes, Richard, Clark, Audrey, Coutts, Lorna, Donnelly, Tammy, Gilchrist, Katarzyna, Hafezi, Louise, Macgillivray, Alan, Maclean, Sarah, Mccafferty, Kirstie, Morrice, Jane, Weaver, Ceilia, Boz, Ailsa, Golightly, Mari, Ward, Hanning, Mal, Helen, Szoor-McElhinney, Adam, Brown, Ross, Hendry, Andrew, Stenhouse, Louise, Cullum, Dawn, Law, Sarah, Law, Rachel, Law, Max Head Fourman, Maaike, Swets, Nicky, Day, Filip, Taneski, Esther, Duncan, Marie, Zechner, Nicholas, Parkinson, Erola, Pairo-Castineira, Lucija, Klaric, Andrew, D Bretherick, Konrad, Rawlik, Dorota, Pasko, Susan, Walker, Nick, Parkinson, Clark, D Russell, Anne, Richmond, Elvina, Gountouna, David, Harrison, Wang, Bo, Yang, Wu, Alison, Meynert, Athanasios, Kousathanas, Loukas, Moutsianas, Zhijian, Yang, Ranran, Zhai, Chenqing, Zheng, Graeme, Grimes, Jonathan, Millar, Barbara, Shih, Jian, Yang, Xia, Shen, Chris, P Ponting, Albert, Tenesa, Andrew, Law, Veronique, Vitart, James, F Wilson, Collier, D, Wood, S, Zak, A, Borra, C, Matharu, M, May, P, Alldis, Z, Mitchelmore, O, Bowles, R, Easthorpe, A, Bibi, F, Lancoma-Malcolm, I, Gurasashvili, J, Pheby, J, Shiel, J, Bolton, M, Patel, M, Taylor, M, Zongo, O, Ebano, P, Harding, P, Astin-Chamberlain, R, Choudhury, Y, Cox, A, Kallon, D, Burton, M, Hall, R, Blowes, S, Prime, Z, Biddle, J, Prysyazhna, O, Newman, T, Tierney, C, Kassam, J, Shankar-Hari, M, Ostermann, M, Campos, S, Bociek, A, Lim, R, Grau, N, O Jones, T, Whitton, C, Marotti, M, Arbane, G, Bonner, S, Hugill, K, Reid, J, Welters, I, Waugh, V, Williams, K, Shaw, D, J Fernandez Roman, M Lopez Martinez, Johnson, E, Waite, A, Johnson, B, Hamilton, O, Mulla, S, Mcphail, M, Smith, J, K Baillie, J, Barclay, L, Hope, D, Mcculloch, C, Mcquillan, L, Clark, S, Singleton, J, Priestley, K, Rea, N, Callaghan, M, Campbell, R, Andrew, G, Marshall, L, Mckechnie, S, Hutton, P, Bashyal, A, Davidson, N, Summers, C, Polgarova, P, Stroud, K, Pathan, N, Elston, K, Agrawal, S, Battle, C, Newey, L, Rees, T, Harford, R, Brinkworth, E, Williams, M, Murphy, C, White, I, Croft, M, Bandla, N, Gellamucho, M, Tomlinson, J, Turner, H, Davies, M, Quinn, A, Hussain, I, Thompson, C, Parker, H, Bradley, R, Griffiths, R, Scriven, J, Gill, J, Puxty, A, Cathcart, S, Salutous, D, Turner, L, Duffy, K, Puxty, K, Joseph, A, Herdman-Grant, R, Simms, R, Swain, A, Naranjo, A, Crowe, R, Sollesta, K, Loveridge, A, Baptista, D, Morino, E, Davey, M, Golden, D, Jones, J, J Moreno Cuesta, Haldeos, A, Bakthavatsalam, D, Vincent, R, Elhassan, M, Xavier, K, Ganesan, A, Purohit, D, Abdelrazik, M, Morgan, J, Akeroyd, L, Bano, S, Warren, D, Bromley, M, Sellick, K, Gurr, L, Wilkinson, B, Nagarajan, V, Szedlak, P, Cupitt, J, Stoddard, E, Benham, L, Preston, S, Slawson, N, Bradshaw, Z, Brown, J, Caswell, M, Smelling, Bamford, P, Faulkner, M, Cawley, K, Jeffrey, H, London, E, Sainsbury, H, Nagra, I, Nasir, F, Dunmore, Ce, Jones, R, Abraheem, A, Al-Moasseb, M, Girach, R, Brantwood, C, Alexander, P, Bradley-Potts, J, Allen, S, Felton, T, Manna, S, Farnell-Ward, S, Leaver, S, Queiroz, J, Maccacari, E, Dawson, D, C Castro Delgado, R Pepermans Saluzzio, Ezeobu, O, Ding, L, Sicat, C, Kanu, R, Durrant, G, Texeira, J, Harrison, A, Samakomva, T, Willis, H, Hopkins, B, Thrasyvoulou, L, Jackson, M, Zaki, A, Tibke, C, Bennett, S, Woodyatt, W, Kent, A, Goodwin, E, Brandwood, C, Clark, R, Smith, L, Rooney, K, Thomson, N, Rodden, N, Hughes, E, Mcglynn, D, Clark, C, Clark, P, Abel, L, Sundaram, R, Gemmell, L, Brett, M, Hornsby, J, Macgoey, P, Price, R, Digby, B, O'Neil, P, Mcconnell, P, Henderson, P, Henderson, S, Sim, M, Kennedy-Hay, S, Mcparland, C, Rooney, L, Baxter, N, Pogson, D, Rose, S, Daly, Z, Brimfield, L, K Phull, M, Hussain, M, Pogreban, T, Rosaroso, L, E Salciute, L Grauslyte, Brealey, D, Wraith, E, Maccallum, N, Bercades, G, Hass, I, Smyth, D, Reyes, A, Martir, G, D Clement, I, Webster, K, Hays, C, Gulati, A, Hodgson, L, Margarson, M, Gomez, R, Baird, Y, Thirlwall, Y, Folkes, L, Butler, A, Meadows, E, Moore, S, Raynard, D, Fox, H, Riddles, L, King, K, Kimber, S, Hobden, G, Mccarthy, A, Cannons, V, Balagosa, I, Chadbourn, I, Gardner, A, Horner, D, Mclaughlanv, D, Charles, B, Proudfoot, N, Marsden, T, L Mc Morrow, Blackledge, B, Pendlebury, J, Harvey, A, Apetri, E, Basikolo, C, Catlow, L, Doonan, R, Knowles, K, Lee, S, Lomas, D, Lyons, C, Perez, J, Poulaka, M, Slaughter, M, Slevin, K, Thomas, V, Walker, D, Harris, J, Drummond, A, Tully, R, Dearden, J, Philbin, J, Munt, S, Rishton, C, O'Connor, G, Mulcahy, M, Dobson, E, Cuttler, J, Edward, M, Rose, A, Sloan, B, Buckley, S, Brooke, H, Smithson, E, Charlesworth, R, Sandu, R, Thirumaran, M, Wagstaff, V, J Cebrian Suarez, Kaliappan, A, Vertue, M, Nicholson, A, Riches, J, Solesbury, A, Kittridge, L, Forsey, M, Maloney, G, Cole, J, Davies, R, Hill, H, Thomas, E, Williams, A, Duffin, D, Player, B, Radhakrishnan, J, Gibson, S, Lyle, A, Mcneela, F, Patel, B, Gummadi, M, Sloane, G, Dormand, N, Salmi, S, Farzad, Z, Cristiano, D, Liyanage, K, Thwaites, V, Varghese, M, Meredith, M, Mills, G, Willson, J, Harrington, K, Lenagh, B, Cawthron, K, Masuko, S, Raithatha, A, Bauchmuller, K, Ahmad, N, Barker, J, Jackson, Y, Kibutu, F, Bird, S, Watson, G, Martin, J, Bevan, E, C Wrey Brown, Trodd, D, English, K, Bell, G, Wilcox, L, Katary, A, Gopal, S, Lake, V, Harris, N, Metherell, S, Radford, E, Moore, F, Bancroft, H, Daglish, J, Sangombe, M, Carmody, M, Rhodes, J, Bellamy, M, Garg, A, Kuravi, A, Virgilio, E, Ranga, P, Butler, J, Botfield, L, Dexter, C, Fletcher, J, Shanmugasundaram, P, Hambrook, G, Burn, I, Manso, K, Thornton, D, Tebbutt, J, Penn, R, Hulme, J, Hussain, S, Maqsood, Z, Joseph, S, Colley, J, Hayes, A, Ahmed, C, Haque, R, Clamp, S, Kumar, R, Purewal, M, Baines, B, Frise, M, Jacques, N, Coles, H, Caterson, J, S Gurung Rai, Brunton, M, Tilney, E, Keating, L, Walden, A, Antcliffe, D, Gordon, A, Templeton, M, Rojo, R, Banach, D, S Sousa Arias, Fernandez, Z, Coghlan, P, Williams, D, Jardine, C, Bewley, J, Sweet, K, Grimmer, L, Johnson, R, Garland, Z, Gumbrill, B, Phillips, C, L Ortiz-Ruiz de Gordoa, Peasgood, E, Tridente, A, K Shuker, S Greer, Lynch, C, Pothecary, C, Roche, L, Deacon, B, Turner, K, Singh, J, G Sera Howe, Paul, P, Gill, M, Wynter, I, Ratnam, V, Shelton, S, Naisbitt, J, Melville, J, Baruah, R, Morrison, S, Mcgregor, A, Parris, V, Mpelembue, M, Srikaran, S, Dennis, C, Sukha, A, Verlande, M, Holding, K, Riches, K, Downes, C, Swan, C, Rostron, A, Roy, A, Woods, L, Cornell, S, Wakinshaw, F, Creagh-Brown, B, Blackman, H, Salberg, A, Smith, E, Donlon, S, Mtuwa, S, Michalak-Glinska, N, Stone, S, Beazley, C, Pristopan, V, Nikitas, N, Lankester, L, Wells, C, S Raj, A, Fletcher, K, Khade, R, Tsinaslanidis, G, Mcmahon, M, Fowler, S, Coventry, T, Stewart, R, Wren, L, Mwaura, E, Mew, L, Scaletta, D, Williams, F, Inweregbu, K, Lancaster, N, Cunningham, M, Daniels, A, Harrison, L, Hope, S, Jones, S, Crew, A, Wray, G, Matthews, J, Crawley, R, Carter, J, Birkinshaw, I, Ingham, J, Scott, Z, Howard, K, Joy, R, Roche, S, Clark, M, Purvis, S, Morrison, A, Strachan, D, Clements, S, Black, K, Parmar, C, Altabaibeh, A, Simpson, K, Mostoles, L, Gilbert, K, L, Ma, Alvaro, A, Thomas, M, Faulkner, B, Worner, R, Hayes, K, Gendall, E, Blakemore, H, Borislavova, B, Goff, E, Vuylsteke, A, Mwaura, L, Zamikula, J, Garner, L, Mitchell, A, Mepham, S, Cagova, L, Fofano, A, Holcombe, H, Praman, K, Szakmany, T, E Heron, A, Cherian, S, Cutler, S, Roynon-Reed, A, Randell, G, Convery, K, K Stammers, D Fottrell-Gould, Hudig, L, Keshet-Price, J, Peters, M, O'Neill, L, Ray, S, Belfield, H, Mchugh, T, Jones, G, Akinkugbe, O, Tomas, A, Abaleke, E, Beech, E, Meghari, H, Yussuf, S, Bamford, A, Hairsine, B, Dooks, E, Farquhar, F, Packham, S, Bates, H, Armstrong, L, Kaye, C, Allan, A, Medhora, J, Liew, J, Botello, A, Anderson, F, Cusack, R, Golding, H, Prager, K, Williams, T, Leggett, S, Golder, K, Male, M, Jones, O, Criste, K, Marani, M, Anumakonda, V, Amin, V, Karthik, K, Kausar, R, Anastasescu, E, Reid, K, Jacqui, M, Hormis, A, Walker, R, Duncan, T, Uriel, A, Ustianowski, A, T-Michael, H, Bruce, M, Connolly, K, Smith, K, Partridge, R, Griffin, D, Mcdonald, M, Muchenje, N, Martin, D, Filipe, H, Eastgate, C, Jackson, C, Gratrix, A, Foster, L, Martinson, V, Stones, E, Caroline, Abernathy, Parkinson, P, Reed, A, Prendergast, C, Rogers, P, Woodruff, M, Shokkar, R, Kaul, S, Barron, A, Collins, C, Beavis, S, Whileman, A, Dale, K, Hawes, J, Pritchard, K, Gascoyne, R, Stevenson, L, Jha, R, Lim, L, Krishnamurthy, V, Parker, R, Turner-Bone, I, Wilding, L, Reddy, A, Whiteley, S, Wilby, E, Howcroft, C, Aspinwall, A, Charlton, S, Ogg, B, Menzies, D, Pugh, R, Allan, E, Lean, R, Davies, F, Easton, J, Qiu, X, Kumar, S, Darlington, K, Houston, G, O'Brien, P, Geary, T, Allan, J, Meikle, A, Hughes, G, Balasubramaniam, M, Latham, S, Mckenna, E, Flanagan, R, Sathe, S, Davies, E, Chablani, M, Kirkby, A, Netherton, K, Archer, S, Yates, B, Ashbrook-Raby, C, Cole, S, Casey, M, Cabrelli, L, Chapman, S, Austin, P, Hutcheon, A, Whyte, C, Almaden-Boyle, C, Pattison, N, Cruz, C, Vochin, A, Kent, H, Thomas, A, Murdoch, S, David, B, Penacerrada, M, Lubimbi, G, Bastion, V, Wulandari, R, Valentine, J, Clarke, D, Serrano-Ruiz, A, Hierons, S, Ramos, L, Demetriou, C, Mitchard, S, White, K, White, N, Pitts, S, Branney, D, Frankham, J, Watters, M, Langton, H, Prout, R, Page, V, Varghes, T, Cowton, A, Kay, A, Potts, K, Birt, M, Kent, M, Wilkinson, A, Jude, E, Turner, V, Savill, H, Mccormick, J, Coulding, M, Siddiqui, S, Mercer, O, Rehman, H, Potla, D, Capps, N, Donaldson, D, Button, H, Martin, T, Hard, K, Agasou, A, Tonks, L, Arden, T, Boyle, P, Carnahan, M, Strickley, J, Adams, C, Childs, D, Rikunenko, R, Leigh, M, Breekes, M, Wilcox, R, Bowes, A, Tiveran, H, Hurford, F, Summers, J, Carter, A, Hussain, Y, Ting, L, Javaid, A, Motherwell, N, Moore, H, Millward, H, Jose, S, Schunki, N, Noakes, A, Clulow, C, Sadera, G, Jacob, R, Jones, C, Blunt, M, Coton, Z, Curgenven, H, S Mohamed Ally, Beaumont, K, Elsaadany, M, Fernandes, K, I Ali Mohamed Ali, Rangarajan, H, Sarathy, V, Selvanayagam, S, Vedage, D, White, M, Smith, M, Truman, N, Chukkambotla, S, Keith, S, Cockerill-Taylor, J, Ryan-Smith, J, Bolton, R, Springle, P, Dykes, J, Thomas, J, Khan, M, T Hijazi, M, Massey, E, Croston, G, Reschreiter, H, Camsooksai, J, Patch, S, Jenkins, S, Humphrey, C, Wadams, B, Bhatia, N, Msiska, M, Adanini, O, Attwood, B, Parsons, P, Tatham, K, Jhanji, S, Black, E, A Dela Rosa, Howle, R, Thomas, B, Bemand, T, Raobaikady, R, Saha, R, Staines, N, Daniel, A, Finn, J, Hutter, J, Doble, P, Shovelton, C, Pawley, C, Kannan, T, Hill, M, Combes, E, Monnery, S, Joefield, T, Popescu, M, Thankachen, M, Oblak, M, Little, J, Mcivor, S, Brady, A, Whittle, H, Prady, H, Chan, R, Ahmed, A, Morris, A, Gibson, C, Gordon, E, Keenan, S, Quinn, H, Benyon, S, Marriott, S, Zitter, L, Park, L, Baines, K, Lyons, M, Holland, M, Keenan, N, Young, M, Garrioch, S, Dawson, J, Tolson, M, Scholefield, B, R, Bi, Richardson, N, Schumacher, N, Cosier, T, Millen, G, Higham, A, Turki, S, Allen, L, Crisp, N, Hazleton, T, Knight, A, Deery, J, Price, C, Turney, S, Tilbey, S, Beranova, E, Wright, D, Georg, L, Twiss, S, Wadd, S, Postlethwaite, K, Gondo, P, Masunda, B, Kayani, A, Hadebe, B, Whiteside, J, Clarke, N, Donnison, P, Trim, F, Leadbitter, I, Butcher, D, O'Sullivan, S, Purewal, B, Bell, S, Rivers', V, O'Leary, R, Birch, J, Collins, E, Anderson, S, Hammerton, K, Andrews, E, Burns, K, Edmond, I, Todd, A, Donnachie, J, Turner, P, Prentice, L, Symon, L, Runciman, N, Auld, F, Halkes, M, Mercer, P, Thornton, L, Debreceni, G, Wilkins, J, Brown, A, Crickmore, V, Subramanian, G, Marshall, R, Jennings, C, Latif, M, Bunni, L, Spivey, M, Bean, S, Burt, K, Linnett, V, Ritzema, J, Sanderson, A, Mccormick, W, Bokhari, M, Kapoor, R, Loader, D, Ayers, A, Harrison, W, North, J, Belagodu, Z, Parasomthy, R, Olufuwa, O, Gherman, A, Fuller, B, Stuart, C, Kelsall, O, Davis, C, Wild, L, Wood, H, Thrush, J, Durie, A, Austin', K, Archer, K, Anderson, P, Vigurs, C, Thorpe, C, Knights, E, Boyle, N, Price, A, Kubisz-Pudelko, A, Wood, D, Lewis, A, Board, S, Pippard, L, Perry, J, Beesley, K, Rattray, A, Lee, E, Lennon, L, Douglas, K, Bell, D, Boyle, R, Glass, L, M Nauman Akhtar, Dent, K, Potoczna, D, Pearson, S, Horsley, E, Spencer, S, Mullan, D, Skinner, D, Gaylard, J, Ortiz-Ruizdegordoa, L, Barber, R, Hewitt, C, Hilldrith, A, Shepardson, S, Wills, M, Jackson-Lawrence, K, Gupta, A, Easthope, A, Timlick, E, Gorman, C, Otaha, I, Gales, A, Coetzee, S, Raj, M, Peiu, M, Quaid, S, Watson, E, Elliott, K, Mallinson, J, Chandler, B, Turnbull, A, Finch, C, Holl, C, Cooper, J, Evans, A, Khaliq, W, Collins, A, E Treus Gude, Love, N, L van Koutrik, Hunt, J, Kaye, D, Fisher, E, Brayne, A, Tuckey, V, Jackson, P, Parkin, J, Raith, E, Tariq, A, Houlden, H, Tucci, A, Hardy, J, Moncur, E, Highgate, J, Cowley, A, Mitra, A, Stead, R, Behan, T, Burnett, C, Newton, M, Heeney, E, Pollard, R, Hatton, J, Patel, A, Kasipandian, V, Allibone, S, M Genetu, R, Otahal, I, O'Brien, L, Omar, Z, Perkins, E, Davies, K, Tetla, D, Shelley, B, Irvine, V, Williams, S, Williams, P, Goodsell, J, Tutton, R, Bough, L, Winter-Goodwin, B, Kitson, R, Pinnell, J, Wilson, A, Nortcliffe, T, Wood, T, Home, M, Holdroyd, K, Robinson, M, Shaw, R, Greig, J, Brady, M, Haigh, A, Matupe, L, Usher, M, Mellor, S, Dale, S, Gledhill, L, Shaw, L, Turner, G, Kelly, D, Anwar, B, Riley, H, Sturgeon, H, Ali, A, Thomis, L, Melia, D, Dance, A, Hanson, K, Humphreys, S, Frost, I, Gopal, V, Godden, J, Holden, A, Swann, S, Smith, T, Clapham, M, Poultney, U, Harper, R, Rice, P, Reece-Anthony, R, Gurung, B, Moultrie, S, Odam, M, Mayer, A, Bellini, A, Pickard, A, Bryant, J, Roe, N, Sowter, J, Lang, K, Taylor, J, Barry, P, Hobrok, M, Tench, H, Wolf-Roberts, R, Mcguinness, H, Loosley, R, Hawcutt, D, Rad, L, O'Malley, L, Saunderson, P, Seddon, G, Anderson, T, Rogers, N, Ruddy, J, Harkins, M, Beith, C, Mcalpine, A, Ferguson, L, Grant, P, Macfadyen, S, Mclaughlin, M, Baird, T, Rundell, S, Welsh, B, Hamill, R, Fisher, F, Gregory, J, Axel, Schmidt, Kerstin, U Ludwig, Selina, Rolker, Markus, M Nöthen, Julia, Fazaal, Verena, Keitel, Björn, Jensen, Torsten, Feldt, Lisa, Knopp, Julia, Schröder, Carlo, Maj, Fabian, Brand, Marc, M Berger, Thorsten, Brenner, Anke, Hinney, Oliver, Witzke, Robert, Bals, Christian, Herr, Nicole, Ludwig, Jörn, Walter, Jochen, Schneider, Johanna, Erber, Christoph, D Spinner, Clemens, M Wendtner, Christof, Winter, Ulrike, Protzer, Nicolas, Casadei, Stephan, Ossowski, Olaf, H Riess, Eva, C Schulte, J Brent Richards, Guillaume, Butler-Laporte, Mirosław, Kwasniewski, Urszula, Korotko, Karolina, Chwialkowska, Magdalena, Niemira, Jerzy, Jaroszewicz, Barbara, Sobala-Szczygiel, Beata, Puzanowska, Anna, Parfieniuk-Kowerda, Diana, Martonik, Anna, Moniuszko-Malinowska, Sławomir, Pancewicz, Dorota, Zarębska-Michaluk, Krzysztof, Simon, Monika, Pazgan-Simon, Iwona, Mozer-Lisewska, Maciej, Bura, Agnieszka, Adamek, Krzysztof Tomasiewicz Małgorzata Pawłowska, Anna, Piekarska, Aleksandra, Berkan-Kawinska, Andrzej, Horban, Justyna, Kowalska, Regina, Podlasin, Piotr, Wasilewski, Arsalin, Azzadin, Miroslaw, Czuczwar, Slawomir, Czaban, Paweł, Olszewski, Jacek, Bogocz, Magdalena, Ochab, Anna, Kruk, Sandra, Uszok, Agnieszka, Bielska, Anna, Szałkowska, Justyna, Raczkowska, Gabriela, Sokołowska, Joanna, Chorostowska-Wynimko, Aleksandra, Jezela-Stanek, Adriana, Roży, Urszula, Lechowicz, Urszula, Polowianiuk, Kamil, Grubczak, Aleksandra, Starosz, Andrzej, Eljaszewicz, Wiktoria, Izdebska, Adam, Krętowski, Robert, Flisiak, Marcin Moniuszko Malak Abedalthagafi Manal Alaamery, Salam, Massadeh, Mohamed, Fawzy, Hadeel, Albardis, Nora, Aljawini, Moneera, Alsuwailm, Faisal, Almalki, Serghei, Mangul, Junghyun, Jung, Hamdi, Mbarek, Chadi, Saad, Yaser, Al-Sarraj, Wadha, Al-Muftah, Radja, Badji, Asma Al Thani, Said, I Ismail, HGI, WES/WGS Working Group Within the, Consortium, GenOMICC, Study, GEN-COVID Multicenter, Renieri, Alessandra [0000-0002-0846-9220], Apollo - University of Cambridge Repository, NIHR, Fallerini, C, Picchiotti, N, Baldassarri, M, Zguro, K, Daga, S, Fava, F, Benetti, E, Amitrano, S, Bruttini, M, Palmieri, M, Croci, S, Lista, M, Beligni, G, Valentino, F, Meloni, I, Tanfoni, M, Minnai, F, Colombo, F, Cabri, E, Fratelli, M, Gabbi, C, Mantovani, S, Frullanti, E, Gori, M, Crawley, F, Butler-Laporte, G, Richards, B, Zeberg, H, Lipcsey, M, Hultström, M, Ludwig, K, Schulte, E, Pairo-Castineira, E, Baillie, J, Schmidt, A, Frithiof, R, Mari, F, Renieri, A, Furini, S, and Crotti, L

Subjects
Male, Medicin och hälsovetenskap, Linkage disequilibrium, Medizin, severity, Genome-wide association study, Disease, WES/WGS Working Group Within the HGI, Logistic regression, Severity of Illness Index, Medical and Health Sciences, Whole Exome Sequencing, Cohort Studies, 0302 clinical medicine, Lasso (statistics), GEN-COVID Multicenter Study, Germany, 80 and over, Genetics (clinical), Exome sequencing, Original Investigation, Genetics & Heredity, Aged, 80 and over, 0303 health sciences, Adult, Aged, COVID-19, Female, Humans, Italy, Middle Aged, Polymorphism, Single Nucleotide, Quebec, SARS-CoV-2, Sweden, United Kingdom, Genetic Predisposition to Disease, Phenotype, Single Nucleotide, covid-19, 1104 Complementary and Alternative Medicine, GenOMICC Consortium, Human, coding variants, Computational biology, Biology, 03 medical and health sciences, Exome Sequencing, Genetics, Polymorphism, Gene, 030304 developmental biology, 0604 Genetics, 1114 Paediatrics and Reproductive Medicine, Cohort Studie, 030217 neurology & neurosurgery, Coding (social sciences)
Abstract

The combined impact of common and rare exonic variants in COVID-19 host genetics is currently insufficiently understood. Here, common and rare variants from whole-exome sequencing data of about 4000 SARS-CoV-2-positive individuals were used to define an interpretable machine-learning model for predicting COVID-19 severity. First, variants were converted into separate sets of Boolean features, depending on the absence or the presence of variants in each gene. An ensemble of LASSO logistic regression models was used to identify the most informative Boolean features with respect to the genetic bases of severity. The Boolean features selected by these logistic models were combined into an Integrated PolyGenic Score that offers a synthetic and interpretable index for describing the contribution of host genetics in COVID-19 severity, as demonstrated through testing in several independent cohorts. Selected features belong to ultra-rare, rare, low-frequency, and common variants, including those in linkage disequilibrium with known GWAS loci. Noteworthily, around one quarter of the selected genes are sex-specific. Pathway analysis of the selected genes associated with COVID-19 severity reflected the multi-organ nature of the disease. The proposed model might provide useful information for developing diagnostics and therapeutics, while also being able to guide bedside disease management. Supplementary Information The online version contains supplementary material available at 10.1007/s00439-021-02397-7.

Published
2021

45. Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes.

Author

Baldassarri, Margherita, Zguro, Kristina, Tomati, Valeria, Pastorino, Cristina, Fava, Francesca, Croci, Susanna, Bruttini, Mirella, Picchiotti, Nicola, Furini, Simone, Pedemonte, Nicoletta, Gabbi, Chiara, Renieri, Alessandra, and Fallerini, Chiara

Subjects
CYSTIC fibrosis transmembrane conductance regulator, ALLELES, COVID-19
Abstract

Carriers of single pathogenic variants of the CFTR (cystic fibrosis transmembrane conductance regulator) gene have a higher risk of severe COVID-19 and 14-day death. The machine learning post-Mendelian model pinpointed CFTR as a bidirectional modulator of COVID-19 outcomes. Here, we demonstrate that the rare complex allele [G576V;R668C] is associated with a milder disease via a gain-of-function mechanism. Conversely, CFTR ultra-rare alleles with reduced function are associated with disease severity either alone (dominant disorder) or with another hypomorphic allele in the second chromosome (recessive disorder) with a global residual CFTR activity between 50 to 91%. Furthermore, we characterized novel CFTR complex alleles, including [A238V;F508del], [R74W;D1270N;V201M], [I1027T;F508del], [I506V;D1168G], and simple alleles, including R347C, F1052V, Y625N, I328V, K68E, A309D, A252T, G542*, V562I, R1066H, I506V, I807M, which lead to a reduced CFTR function and thus, to more severe COVID-19. In conclusion, CFTR genetic analysis is an important tool in identifying patients at risk of severe COVID-19. [ABSTRACT FROM AUTHOR]

Published
2022
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46. Diet and the Gut Microbiota – How the Gut

Author

Tuohy, Kieran M., primary, Venuti, Paola, additional, Cuva, Simone, additional, Furlanello, Cesare, additional, Gasperotti, Mattia, additional, Mancini, Andrea, additional, Ceppa, Florencia, additional, Cavalieri, Duccio, additional, de Filippo, Carlotta, additional, Vrhovsek, Urska, additional, Mena, Pedro, additional, Del Rio, Daniele, additional, and Fava, Francesca, additional

Published
2015
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48. List of Contributors

Author

Allsopp, Philip, primary, Bonaccio, Marialaura, additional, Brown, Duncan T., additional, Brown, Emma M., additional, Bruni, Renato, additional, Calani, Luca, additional, Cavalieri, Duccio, additional, Ceppa, Florencia, additional, Ceribelli, Angela, additional, Cirlini, Martina, additional, Costabile, Adele, additional, Cuva, Simone, additional, Dall’Asta, Chiara, additional, De Filippo, Carlotta, additional, Del Rio, Daniele, additional, Donati, Maria Benedetta, additional, Fava, Francesca, additional, Furlanello, Cesare, additional, de Gaetano, Giovanni, additional, Gasperotti, Mattia, additional, Gill, Chris I.R., additional, Hullar, Meredith A.J., additional, Iacoviello, Licia, additional, Klinder, Annett, additional, Koutsos, Athanasios, additional, Lampe, Johanna W., additional, Lancaster, Samuel M., additional, Lovegrove, Julie A., additional, Maitin, Vatsala, additional, Mancini, Andrea, additional, McMullan, Geoff, additional, Mena, Pedro, additional, Morelli, Lorenzo, additional, Patrone, Vania, additional, Pounis, George, additional, Rowland, Ian, additional, Scott, Karen P., additional, Selmi, Carlo, additional, Shen, Qing, additional, van Sinderen, Douwe, additional, Ternan, Nigel G., additional, Tuohy, Kieran M., additional, Turroni, Francesca, additional, Ventura, Marco, additional, Venuti, Paola, additional, Vrhovsek, Urska, additional, and Yoder, Seth C., additional

Published
2015
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49. Shaping the Human Microbiome with Prebiotic Foods – Current Perspectives for Continued Development**This is an update of: “Shaping the human microbiome with prebiotic foods – current perspectives for continued development.” Food Science and Technology Bulletin 2010; 7(4): 49–64. Available from: http://dx.doi.org/10.1616/1476-2137.15989 handle: http://hdl.handle.net/10449/19776. Re-published with the permission of International Food Information Service (IFIS Publishing).

Author

Tuohy, Kieran M., primary, Brown, Duncan T., additional, Klinder, Annett, additional, Costabile, Adele, additional, and Fava, Francesca, additional

Published
2015
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