626 results on '"D'Alfonso, Sandra"'
Search Results
2. A case of early-onset Parkinson’s disease in a patient with KBG syndrome
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Magistrelli, Luca, Contaldi, Elena, Caushi, Fjorilda, Spano, Alice, Cantello, Roberto, D’Alfonso, Sandra, and Corrado, Lucia
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- 2023
- Full Text
- View/download PDF
3. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
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van Rheenen, Wouter, van der Spek, Rick AA, Bakker, Mark K, van Vugt, Joke JFA, Hop, Paul J, Zwamborn, Ramona AJ, de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B, Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M, Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs HP, van Eijk, Kristel R, Kooyman, Maarten, Byrne, Ross P, Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N, Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E, Shaw, Pamela J, Hardy, John, Orrell, Richard W, Sendtner, Michael, Meyer, Thomas, Başak, Nazli, van der Kooi, Anneke J, Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D’Alfonso, Sandra, Sorarù, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H, Bell, Shaughn, Vourc’h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stéphanie, Meininger, Vincent, Salachas, François, Mora Pardina, Jesus S, Assialioui, Abdelilah, Rojas-García, Ricardo, Dion, Patrick A, Ross, Jay P, Ludolph, Albert C, Weishaupt, Jochen H, Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine AM, Saker-Delye, Safa, Wood, Nicholas W, Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, and Kraft, Julia
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Human Genome ,Neurodegenerative ,Clinical Research ,Rare Diseases ,Prevention ,ALS ,Neurosciences ,Genetics ,Brain Disorders ,Aetiology ,2.1 Biological and endogenous factors ,Neurological ,Amyotrophic Lateral Sclerosis ,Brain ,Cholesterol ,Disease Progression ,Female ,Genome-Wide Association Study ,Glutamine ,Humans ,Male ,Mendelian Randomization Analysis ,Microsatellite Repeats ,Mutation ,Neurodegenerative Diseases ,Neurons ,Quantitative Trait Loci ,RNA-Seq ,Risk Factors ,SLALOM Consortium ,PARALS Consortium ,SLAGEN Consortium ,SLAP Consortium ,Biological Sciences ,Medical and Health Sciences ,Developmental Biology - Abstract
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons.
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- 2021
4. Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis
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Dewan, Ramita, Chia, Ruth, Ding, Jinhui, Hickman, Richard A, Stein, Thor D, Abramzon, Yevgeniya, Ahmed, Sarah, Sabir, Marya S, Portley, Makayla K, Tucci, Arianna, Ibáñez, Kristina, Shankaracharya, FNU, Keagle, Pamela, Rossi, Giacomina, Caroppo, Paola, Tagliavini, Fabrizio, Waldo, Maria L, Johansson, Per M, Nilsson, Christer F, Rowe, James B, Benussi, Luisa, Binetti, Giuliano, Ghidoni, Roberta, Jabbari, Edwin, Viollet, Coralie, Glass, Jonathan D, Singleton, Andrew B, Silani, Vincenzo, Ross, Owen A, Ryten, Mina, Torkamani, Ali, Tanaka, Toshiko, Ferrucci, Luigi, Resnick, Susan M, Pickering-Brown, Stuart, Brady, Christopher B, Kowal, Neil, Hardy, John A, Van Deerlin, Vivianna, Vonsattel, Jean Paul, Harms, Matt, Morris, Christopher M, Ferrari, Raffaele, Landers, John E, Chiò, Adriano, Gibbs, Jesse Raphael, Dalgard, Clifton L, Scholz, Sonja W, Traynor, Bryan J, Adeleye, Adelani, Alba, Camille, Bacikova, Dagmar, Hupalo, Daniel N, Martinez, Elisa McGrath, Pollard, Harvey B, Sukumar, Gauthaman, Soltis, Anthony R, Tuck, Meila, Zhang, Xijun, Wilkerson, Matthew D, Smith, Bradley N, Ticozzi, Nicola, Fallini, Claudia, Gkazi, Athina Soragia, Topp, Simon D, Kost, Jason, Scotter, Emma L, Kenna, Kevin P, Miller, Jack W, Tiloca, Cinzia, Vance, Caroline, Danielson, Eric W, Troakes, Claire, Colombrita, Claudia, Al-Sarraj, Safa, Lewis, Elizabeth A, King, Andrew, Calini, Daniela, Pensato, Viviana, Castellotti, Barbara, de Belleroche, Jacqueline, Baas, Frank, Asbroek, Anneloor LMA ten, Sapp, Peter C, McKenna-Yasek, Diane, McLaughlin, Russell L, Polak, Meraida, Asress, Seneshaw, Esteban-Pérez, Jesús, Muñoz-Blanco, José Luis, Stevic, Zorica, D’Alfonso, Sandra, Mazzini, Letizia, Comi, Giacomo P, Del Bo, Roberto, Ceroni, Mauro, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, and van Rheenen, Wouter
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Genetics ,Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD) ,Clinical Research ,Neurodegenerative ,Acquired Cognitive Impairment ,Dementia ,Frontotemporal Dementia (FTD) ,Alzheimer's Disease Related Dementias (ADRD) ,ALS ,Rare Diseases ,Brain Disorders ,Neurosciences ,Huntington's Disease ,2.1 Biological and endogenous factors ,Aetiology ,Neurological ,Amyotrophic Lateral Sclerosis ,DNA Repeat Expansion ,Frontotemporal Dementia ,Humans ,Huntingtin Protein ,Mutation ,Whole Genome Sequencing ,American Genome Center ,FALS Sequencing Consortium ,Genomics England Research Consortium ,International ALS/FTD Genomics Consortium ,International FTD Genetics Consortium ,International LBD Genomics Consortium ,NYGC ALS Consortium ,PROSPECT Consortium ,amyotrophic lateral sclerosis ,frontotemporal dementia ,huntingtin ,repeat expansions ,whole-genome sequencing ,Psychology ,Cognitive Sciences ,Neurology & Neurosurgery - Abstract
We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range, 40-64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington's disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered.
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- 2021
5. Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias
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Soltis, Anthony R., Viollet, Coralie, Sukumar, Gauthaman, Alba, Camille, Lott, Nathaniel, McGrath Martinez, Elisa, Tuck, Meila, Singh, Jatinder, Bacikova, Dagmar, Zhang, Xijun, Hupalo, Daniel N., Adeleye, Adelani, Wilkerson, Matthew D., Pollard, Harvey B., Dalgard, Clifton L., Black, Sandra E., Gan-Or, Ziv, Keith, Julia, Masellis, Mario, Rogaeva, Ekaterina, Brice, Alexis, Lesage, Suzanne, Xiromerisiou, Georgia, Calvo, Andrea, Canosa, Antonio, Chio, Adriano, Logroscino, Giancarlo, Mora, Gabriele, Krüger, Reijko, May, Patrick, Alcolea, Daniel, Clarimon, Jordi, Fortea, Juan, Gonzalez-Aramburu, Isabel, Infante, Jon, Lage, Carmen, Lleó, Alberto, Pastor, Pau, Sanchez-Juan, Pascual, Brett, Francesca, Aarsland, Dag, Al-Sarraj, Safa, Attems, Johannes, Gentleman, Steve, Hardy, John A., Hodges, Angela K., Love, Seth, McKeith, Ian G., Morris, Christopher M., Morris, Huw R., Palmer, Laura, Pickering-Brown, Stuart, Ryten, Mina, Thomas, Alan J., Troakes, Claire, Albert, Marilyn S., Barrett, Matthew J., Beach, Thomas G., Bekris, Lynn M., Bennett, David A., Boeve, Bradley F., Dawson, Ted M., Dickson, Dennis W., Faber, Kelley, Ferman, Tanis, Ferrucci, Luigi, Flanagan, Margaret E., Foroud, Tatiana M., Ghetti, Bernardino, Gibbs, J. Raphael, Goate, Alison, Goldstein, David S., Graff-Radford, Neill R., Kaufmann, Horacio, Kukull, Walter A., Leverenz, James B., Lopez, Grisel, Mao, Qinwen, Masliah, Eliezer, Monuki, Edwin, Newell, Kathy L., Palma, Jose-Alberto, Perkins, Matthew, Pletnikova, Olga, Renton, Alan E., Resnick, Susan M., Rosenthal, Liana S., Ross, Owen A., Scherzer, Clemens R., Serrano, Geidy E., Shakkottai, Vikram G., Sidransky, Ellen, Tanaka, Toshiko, Tayebi, Nahid, Topol, Eric, Torkamani, Ali, Troncoso, Juan C., Woltjer, Randy, Wszolek, Zbigniew K., Scholz, Sonja W., Baloh, Robert H., Bowser, Robert, Broach, James, Camu, William, Chiò, Adriano, Cooper-Knock, John, Drepper, Carsten, Drory, Vivian E., Dunckley, Travis L., Feldman, Eva, Fratta, Pietro, Gerhard, Glenn, Gibson, Summer B., Glass, Jonathan D., Harms, Matthew B., Heiman-Patterson, Terry D., Jansson, Lilja, Kirby, Janine, Kwan, Justin, Laaksovirta, Hannu, Landers, John E., Landi, Francesco, Le Ber, Isabelle, Lumbroso, Serge, MacGowan, Daniel J.L., Maragakis, Nicholas J., Mouzat, Kevin, Myllykangas, Liisa, Orrell, Richard W., Ostrow, Lyle W., Pamphlett, Roger, Pioro, Erik, Pulst, Stefan M., Ravits, John M., Robberecht, Wim, Rothstein, Jeffrey D., Sendtner, Michael, Shaw, Pamela J., Sidle, Katie C., Simmons, Zachary, Stein, Thor, Stone, David J., Tienari, Pentti J., Traynor, Bryan J., Valori, Miko, Van Damme, Philip, Van Deerlin, Vivianna M., Van Den Bosch, Ludo, Zinman, Lorne, Kaivola, Karri, Chia, Ruth, Ding, Jinhui, Rasheed, Memoona, Fujita, Masashi, Menon, Vilas, Walton, Ronald L., Collins, Ryan L., Billingsley, Kimberley, Brand, Harrison, Talkowski, Michael, Zhao, Xuefang, Dewan, Ramita, Stark, Ali, Ray, Anindita, Solaiman, Sultana, Alvarez Jerez, Pilar, Malik, Laksh, Tienari, Pentti, Mazzini, Letizia, D'Alfonso, Sandra, Moglia, Cristina, and De Jager, Philip L.
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- 2023
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6. A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility
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Sorosina, Melissa, Barizzone, Nadia, Clarelli, Ferdinando, Anand, Santosh, Lupoli, Sara, Salvi, Erika, Mangano, Eleonora, Bordoni, Roberta, Roostaei, Tina, Mascia, Elisabetta, Zuccalà, Miriam, Vecchio, Domizia, Cavalla, Paola, Santoro, Silvia, Ferrè, Laura, Zollo, Alen, Barlassina, Cristina, Cusi, Daniele, Martinelli, Vittorio, Comi, Giancarlo, Leone, Maurizio, Filippi, Massimo, Patsopoulos, Nikolaos A., De Jager, Philip L., De Bellis, Gianluca, Esposito, Federica, D’Alfonso, Sandra, and Martinelli Boneschi, Filippo
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- 2022
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7. Impact of Genetic Susceptibility on Multiple Sclerosis Immune Methylome (S17.006)
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Giordano, Antonino, primary, Needhamsen, Maria, additional, Shchetynsky, Klementy, additional, Stridh, Pernilla, additional, Harroud, Adil, additional, Gasperi, Christiane, additional, Zinevych, Iaroslav, additional, Paakkonen, Kimmo, additional, Lahermo, Paivi, additional, D'Alfonso, Sandra, additional, Barizzone, Nadia, additional, Cavalla, Paola, additional, Gallo, Antonio, additional, Chinni, Elena, additional, Hemmer, Bernhard, additional, Flaskamp, Martina Clara, additional, Uibel, Paula, additional, Piehl, Fredrik, additional, Esposito, Federica, additional, Mascia, Elisabetta, additional, Sorosina, Melissa, additional, Filippi, Massimo, additional, Gustavsen, Stefan, additional, Olsson, Anna, additional, Søndergaard, Helle Bach, additional, Oturai, Annette, additional, Dubois, Benedicte, additional, Harbo, Hanne Catherine Flinstad, additional, Berge, Tone, additional, Bos, Steffan Daniel, additional, Villoslada, Pablo, additional, Llufriu, Sara, additional, Boneschi, Filippo Martinelli, additional, Liblau, Roland, additional, Pignolet, Beatrice, additional, Kockum, Ingrid, additional, Beck, Stephan, additional, Saarela, Janna, additional, and Jagodic, Maja, additional
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- 2024
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8. Association of Intermediate HTT CAG Repeats with Increased Risk and Disease Severity in Amyotrophic Lateral Sclerosis (P5-11.003)
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Grassano, Maurizio, primary, Canosa, Antonio, additional, Corrado, Lucia, additional, D’Alfonso, Sandra, additional, Manera, Umberto, additional, Vasta, Rosario, additional, Koumantakis, Emanuele, additional, Brodini, Giorgia, additional, Palumbo, Francesca, additional, Moglia, Cristina, additional, Chia, Ruth, additional, Mazzini, Letizia, additional, Calvo, Andrea, additional, Scholz, Sonja, additional, Traynor, Bryan, additional, and Chio, Adriano, additional
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- 2024
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9. Author Correction: A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis
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Madireddy, Lohith, Patsopoulos, Nikolaos A, Cotsapas, Chris, Bos, Steffan D, Beecham, Ashley, McCauley, Jacob, Kim, Kicheol, Jia, Xiaoming, Santaniello, Adam, Caillier, Stacy J, Andlauer, Till FM, Barcellos, Lisa F, Berge, Tone, Bernardinelli, Luisa, Martinelli-Boneschi, Filippo, Booth, David R, Briggs, Farren, Celius, Elisabeth G, Comabella, Manuel, Comi, Giancarlo, Cree, Bruce AC, D'Alfonso, Sandra, Dedham, Katrina, Duquette, Pierre, Dardiotis, Efthimios, Esposito, Federica, Fontaine, Bertrand, Gasperi, Christiane, Goris, An, Dubois, Benedicte, Gourraud, Pierre-Antoine, Hadjigeorgiou, Georgios, Haines, Jonathan, Hawkins, Clive, Hemmer, Bernhard, Hintzen, Rogier, Horakova, Dana, Isobe, Noriko, Kalra, Seema, Kira, Jun-ichi, Khalil, Michael, Kockum, Ingrid, Lill, Christina M, Lincoln, Matthew R, Luessi, Felix, Martin, Roland, Oturai, Annette, Palotie, Aarno, Pericak-Vance, Margaret A, Henry, Roland, Saarela, Janna, Ivinson, Adrian, Olsson, Tomas, Taylor, Bruce V, Stewart, Graeme J, Harbo, Hanne F, Compston, Alastair, Hauser, Stephen L, Hafler, David A, Zipp, Frauke, De Jager, Philip, Sawcer, Stephen, Oksenberg, Jorge R, and Baranzini, Sergio E
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International Multiple Sclerosis Genetics Consortium - Abstract
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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- 2019
10. A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis
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Madireddy, Lohith, Patsopoulos, Niklaos A, Cotsapas, Chris, Bos, Steffan D, Beecham, Ashley, McCauley, Jacob, Kim, Kicheol, Jia, Xiaoming, Santaniello, Adam, Caillier, Stacy J, Andlauer, Till FM, Barcellos, Lisa F, Berge, Tone, Bernardinelli, Luisa, Martinelli-Boneschi, Filippo, Booth, David R, Briggs, Farren, Celius, Elisabeth G, Comabella, Manuel, Comi, Giancarlo, Cree, Bruce AC, D'Alfonso, Sandra, Dedham, Katrina, Duquette, Pierre, Efthimios, Dardiotis, Esposito, Federica, Fontaine, Bertrand, Gasperi, Christiane, Goris, An, Dubois, Benedicte, Gourraud, Pierre-Antoine, Hadjigeorgiou, Georgios, Haines, Jonathan, Hawkins, Clive, Hemmer, Bernhard, Hintzen, Rogier, Horakova, Dana, Isobe, Noriko, Kalra, Seema, Kira, Jun-ichi, Khalil, Michael, Kockum, Ingrid, Lill, Christina M, Lincoln, Matthew R, Luessi, Felix, Martin, Roland, Oturai, Annette, Palotie, Aarno, Pericak-Vance, Margaret A, Henry, Roland, Saarela, Janna, Ivinson, Adrian, Olsson, Tomas, Taylor, Bruce V, Stewart, Graeme J, Harbo, Hanne F, Compston, Alastair, Hauser, Stephen L, Hafler, David A, Zipp, Frauke, De Jager, Philip, Sawcer, Stephen, Oksenberg, Jorge R, and Baranzini, Sergio E
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Human Genome ,Autoimmune Disease ,Multiple Sclerosis ,Genetics ,Biotechnology ,Brain Disorders ,Neurodegenerative ,Clinical Research ,Neurosciences ,2.1 Biological and endogenous factors ,Aetiology ,Inflammatory and immune system ,Gene Expression Regulation ,Genes ,Regulator ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Genotype ,Humans ,Polymorphism ,Single Nucleotide ,Systems Biology ,International Multiple Sclerosis Genetics Consortium - Abstract
Genome-wide association studies (GWAS) have identified more than 50,000 unique associations with common human traits. While this represents a substantial step forward, establishing the biology underlying these associations has proven extremely difficult. Even determining which cell types and which particular gene(s) are relevant continues to be a challenge. Here, we conduct a cell-specific pathway analysis of the latest GWAS in multiple sclerosis (MS), which had analyzed a total of 47,351 cases and 68,284 healthy controls and found more than 200 non-MHC genome-wide associations. Our analysis identifies pan immune cell as well as cell-specific susceptibility genes in T cells, B cells and monocytes. Finally, genotype-level data from 2,370 patients and 412 controls is used to compute intra-individual and cell-specific susceptibility pathways that offer a biological interpretation of the individual genetic risk to MS. This approach could be adopted in any other complex trait for which genome-wide data is available.
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- 2019
11. Identifying and predicting amyotrophic lateral sclerosis clinical subgroups: a population-based machine-learning study
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Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Canosa, Antonio, Manera, Umberto, Vasta, Rosario, Palumbo, Francesca, Bombaci, Alessandro, Grassano, Maurizio, Brunetti, Maura, Casale, Federico, Fuda, Giuseppe, Salamone, Paolina, Iazzolino, Barbara, Peotta, Laura, Cugnasco, Paolo, De Marco, Giovanni, Torrieri, Maria Claudia, Gallone, Salvatore, Barberis, Marco, Sbaiz, Luca, Gentile, Salvatore, Mauro, Alessandro, Mazzini, Letizia, De Marchi, Fabiola, Corrado, Lucia, D'Alfonso, Sandra, Bertolotto, Antonio, Imperiale, Daniele, De Mattei, Marco, Amarù, Salvatore, Comi, Cristoforo, Labate, Carmelo, Poglio, Fabio, Ruiz, Luigi, Testa, Lucia, Rota, Eugenia, Ghiglione, Paolo, Launaro, Nicola, Di Sapio, Alessia, Mandrioli, Jessica, Fini, Nicola, Martinelli, Ilaria, Zucchi, Elisabetta, Gianferrari, Giulia, Simonini, Cecilia, Meletti, Stefano, Liguori, Rocco, Vacchiano, Veria, Salvi, Fabrizio, Bartolomei, Ilaria, Michelucci, Roberto, Cortelli, Pietro, Rinaldi, Rita, Borghi, Anna Maria, Zini, Andrea, Sette, Elisabetta, Tugnoli, Valeria, Pugliatti, Maura, Canali, Elena, Codeluppi, Luca, Valzania, Franco, Zinno, Lucia, Pavesi, Giovanni, Medici, Doriana, Pilurzi, Giovanna, Terlizzi, Emilio, Guidetti, Donata, De Pasqua, Silvia, Santangelo, Mario, De Massis, Patrizia, Bracaglia, Martina, Casmiro, Mario, Querzani, Pietro, Morresi, Simonetta, Longoni, Marco, Patuelli, Alberto, Malagù, Susanna, Currò Dossi, Marco, Vidale, Simone, Ferro, Salvatore, Faghri, Faraz, Brunn, Fabian, Dadu, Anant, Nalls, Michael A, Campbell, Roy H, and Traynor, Bryan J
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- 2022
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12. The impact of lifetime coffee and tea loads on Multiple Sclerosis severity
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Ivashynka, Andrei, Leone, Maurizio A., Barizzone, Nadia, Cucovici, Aliona, Cantello, Roberto, Vecchio, Domizia, Zuccalà, Miriam, Pizzino, Alessandro, Copetti, Massimiliano, D'Alfonso, Sandra, and Fontana, Andrea
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- 2022
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13. Clinical relevance of single-subject brain metabolism patterns in amyotrophic lateral sclerosis mutation carriers
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Tondo, Giacomo, Mazzini, Letizia, Caminiti, Silvia Paola, Sarnelli, Maria Francesca, Corrado, Lucia, Matheoud, Roberta, D'Alfonso, Sandra, Cantello, Roberto, Sacchetti, Gian Mauro, Perani, Daniela, Comi, Cristoforo, and De Marchi, Fabiola
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- 2022
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14. Polymorphisms in the Dopaminergic Receptor D3 Gene Correlate with Disease Progression Rate in Relapsing–Remitting Multiple Sclerosis Patients.
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Ferrari, Marco, Vecchio, Domizia, D'Alfonso, Sandra, Gemma, Alessandra, Marino, Franca, Comi, Cristoforo, and Cosentino, Marco
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DOPAMINE receptors ,DOPAMINE ,GENETIC polymorphisms ,MULTIPLE sclerosis ,SINGLE nucleotide polymorphisms ,DISEASE progression ,CENTRAL nervous system diseases - Abstract
Background: Multiple sclerosis (MS) is a common chronic autoimmune disease of the central nervous system. In MS, disability progresses unpredictably. Dopamine (DA) is a modulator of immune functions, and compelling evidence supports its involvement in both pathogenesis and treatment of MS. Although single nucleotide polymorphisms (SNPs) in dopaminergic receptor (DR) genes have been extensively studied, their role in MS progression remains unexplored. Therefore, the aim of this explorative study is to investigate the potential association between functional SNPs in DR genes and MS progression. Methods: Caucasian patients with relapsing–remitting (RR) MS were enrolled, and disease progression assessed by the Multiple Sclerosis Severity Score (MSSS). Results: Out of the 59 RRMS patients enrolled, those with the G/G genotype for rs6280 and rs1800828 SNPs in DRD3 showed significantly higher MSSSs compared to those with ancestral and heterozygous genotypes. Conclusions: If confirmed in a larger prospective study, the reported findings could contribute to a better understanding of MS pathophysiological mechanisms, opening the way for the identification of marker(s) for assessing MS progression as well as novel therapeutic strategies. A personalized approach to MS management has the potential to improve the overall well-being of MS patients and alleviate the burden on their caregivers. [ABSTRACT FROM AUTHOR]
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- 2024
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15. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
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Nicolas, Aude, Kenna, Kevin P, Renton, Alan E, Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A, Kenna, Brendan J, Nalls, Mike A, Keagle, Pamela, Rivera, Alberto M, van Rheenen, Wouter, Murphy, Natalie A, van Vugt, Joke JFA, Geiger, Joshua T, Van der Spek, Rick A, Pliner, Hannah A, Shankaracharya, Smith, Bradley N, Marangi, Giuseppe, Topp, Simon D, Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D, Kenna, Aoife, ITALSGEN Consortium, Mora, Gabriele, Calvo, Andrea, Mazzini, Letizia, Riva, Nilo, Mandrioli, Jessica, Caponnetto, Claudia, Battistini, Stefania, Volanti, Paolo, La Bella, Vincenzo, Conforti, Francesca L, Borghero, Giuseppe, Messina, Sonia, Simone, Isabella L, Trojsi, Francesca, Salvi, Fabrizio, Logullo, Francesco O, D'Alfonso, Sandra, Corrado, Lucia, Capasso, Margherita, Ferrucci, Luigi, Genomic Translation for ALS Care (GTAC) Consortium, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Goldstein, David B, ALS Sequencing Consortium, Gitler, Aaron D, Harris, Tim, Myers, Richard M, NYGC ALS Consortium, Phatnani, Hemali, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C, Answer ALS Foundation, Kaye, Julia, Finkbeiner, Steven, Wyman, Stacia K, LeNail, Alex, Lima, Leandro, Fraenkel, Ernest, Svendsen, Clive N, Thompson, Leslie M, Van Eyk, Jennifer E, Berry, James D, Miller, Timothy M, Kolb, Stephen J, Cudkowicz, Merit, Baxi, Emily, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar, Michael, Taylor, J Paul, Rampersaud, Evadnie, Wu, Gang, Wuu, Joanne, SLAGEN Consortium, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P, Sorarù, Gianni, Cereda, Cristina, French ALS Consortium, Corcia, Philippe, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, and Orrell, Richard W
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ITALSGEN Consortium ,Genomic Translation for ALS Care (GTAC) Consortium ,ALS Sequencing Consortium ,NYGC ALS Consortium ,Answer ALS Foundation ,Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium ,SLAGEN Consortium ,French ALS Consortium ,Project MinE ALS Sequencing Consortium ,Humans ,Amyotrophic Lateral Sclerosis ,Cohort Studies ,Amino Acid Sequence ,Adult ,Aged ,Aged ,80 and over ,Middle Aged ,Female ,Male ,Genome-Wide Association Study ,Young Adult ,Loss of Function Mutation ,Kinesins ,ALS ,GWAS ,KIF5A ,WES ,WGS ,axonal transport ,cargo ,Brain Disorders ,Genetics ,Human Genome ,Rare Diseases ,Neurosciences ,Neurodegenerative ,Aetiology ,2.1 Biological and endogenous factors ,Neurological ,Psychology ,Cognitive Sciences ,Neurology & Neurosurgery - Abstract
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.
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- 2018
16. Deletions in VANGL1 are a risk factor for antibody-mediated kidney disease
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Jiang, Simon H., Mercan, Sevcan, Papa, Ilenia, Moldovan, Max, Walters, Giles D., Koina, Mark, Fadia, Mitali, Stanley, Maurice, Lea-Henry, Tom, Cook, Amelia, Ellyard, Julia, McMorran, Brendan, Sundaram, Madhivanan, Thomson, Russell, Canete, Pablo F., Hoy, Wendy, Hutton, Holly, Srivastava, Monika, McKeon, Kathryn, de la Rúa Figueroa, Iñigo, Cervera, Ricard, Faria, Raquel, D’Alfonso, Sandra, Gatto, Mariele, Athanasopoulos, Vicki, Field, Matthew, Mathews, John, Cho, Eun, Andrews, Thomas D., Kitching, A. Richard, Cook, Matthew C., Riquelme, Marta Alarcon, Bahlo, Melanie, and Vinuesa, Carola G.
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- 2021
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17. Parkinson's disease and chronic inflammatory demyelinating polyneuropathy: Broadening the clinical spectrum of VCP mutations
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Gallo, Silvia, primary, Vignaroli, Francesca, additional, Contaldi, Elena, additional, Vecchio, Domizia, additional, Corrado, Lucia, additional, D'Alfonso, Sandra, additional, Cantello, Roberto, additional, and Magistrelli, Luca, additional
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- 2024
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18. Variability in Clinical Phenotype in TARDBP Mutations: Amyotrophic Lateral Sclerosis Case Description and Literature Review
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Lombardi, Michele, primary, Corrado, Lucia, additional, Piola, Beatrice, additional, Comi, Cristoforo, additional, Cantello, Roberto, additional, D’Alfonso, Sandra, additional, Mazzini, Letizia, additional, and De Marchi, Fabiola, additional
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- 2023
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19. Correction to: A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility
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Sorosina, Melissa, Barizzone, Nadia, Clarelli, Ferdinando, Anand, Santosh, Lupoli, Sara, Salvi, Erika, Mangano, Eleonora, Bordoni, Roberta, Roostaei, Tina, Mascia, Elisabetta, Zuccalà, Miriam, Vecchio, Domizia, Cavalla, Paola, Santoro, Silvia, Ferrè, Laura, Zollo, Alen, Barlassina, Cristina, Cusi, Daniele, Martinelli, Vittorio, Comi, Giancarlo, Leone, Maurizio, Filippi, Massimo, Patsopoulos, Nikolaos A., De Jager, Philip L., De Bellis, Gianluca, Esposito, Federica, D’Alfonso, Sandra, and Martinelli Boneschi, Filippo
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- 2022
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20. Transancestral mapping and genetic load in systemic lupus erythematosus.
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Langefeld, Carl D, Ainsworth, Hannah C, Cunninghame Graham, Deborah S, Kelly, Jennifer A, Comeau, Mary E, Marion, Miranda C, Howard, Timothy D, Ramos, Paula S, Croker, Jennifer A, Morris, David L, Sandling, Johanna K, Almlöf, Jonas Carlsson, Acevedo-Vásquez, Eduardo M, Alarcón, Graciela S, Babini, Alejandra M, Baca, Vicente, Bengtsson, Anders A, Berbotto, Guillermo A, Bijl, Marc, Brown, Elizabeth E, Brunner, Hermine I, Cardiel, Mario H, Catoggio, Luis, Cervera, Ricard, Cucho-Venegas, Jorge M, Dahlqvist, Solbritt Rantapää, D'Alfonso, Sandra, Da Silva, Berta Martins, de la Rúa Figueroa, Iñigo, Doria, Andrea, Edberg, Jeffrey C, Endreffy, Emőke, Esquivel-Valerio, Jorge A, Fortin, Paul R, Freedman, Barry I, Frostegård, Johan, García, Mercedes A, de la Torre, Ignacio García, Gilkeson, Gary S, Gladman, Dafna D, Gunnarsson, Iva, Guthridge, Joel M, Huggins, Jennifer L, James, Judith A, Kallenberg, Cees GM, Kamen, Diane L, Karp, David R, Kaufman, Kenneth M, Kottyan, Leah C, Kovács, László, Laustrup, Helle, Lauwerys, Bernard R, Li, Quan-Zhen, Maradiaga-Ceceña, Marco A, Martín, Javier, McCune, Joseph M, McWilliams, David R, Merrill, Joan T, Miranda, Pedro, Moctezuma, José F, Nath, Swapan K, Niewold, Timothy B, Orozco, Lorena, Ortego-Centeno, Norberto, Petri, Michelle, Pineau, Christian A, Pons-Estel, Bernardo A, Pope, Janet, Raj, Prithvi, Ramsey-Goldman, Rosalind, Reveille, John D, Russell, Laurie P, Sabio, José M, Aguilar-Salinas, Carlos A, Scherbarth, Hugo R, Scorza, Raffaella, Seldin, Michael F, Sjöwall, Christopher, Svenungsson, Elisabet, Thompson, Susan D, Toloza, Sergio MA, Truedsson, Lennart, Tusié-Luna, Teresa, Vasconcelos, Carlos, Vilá, Luis M, Wallace, Daniel J, Weisman, Michael H, Wither, Joan E, Bhangale, Tushar, Oksenberg, Jorge R, Rioux, John D, Gregersen, Peter K, Syvänen, Ann-Christine, Rönnblom, Lars, Criswell, Lindsey A, Jacob, Chaim O, Sivils, Kathy L, Tsao, Betty P, Schanberg, Laura E, and Behrens, Timothy W
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Humans ,Lupus Erythematosus ,Systemic ,HLA Antigens ,Logistic Models ,Case-Control Studies ,Mutagenesis ,Insertional ,Age of Onset ,Sequence Deletion ,Genetic Load ,Multifactorial Inheritance ,Polymorphism ,Single Nucleotide ,African Continental Ancestry Group ,American Native Continental Ancestry Group ,European Continental Ancestry Group ,Hispanic Americans ,Lupus Erythematosus ,Systemic ,Mutagenesis ,Insertional ,Polymorphism ,Single Nucleotide - Abstract
Systemic lupus erythematosus (SLE) is an autoimmune disease with marked gender and ethnic disparities. We report a large transancestral association study of SLE using Immunochip genotype data from 27,574 individuals of European (EA), African (AA) and Hispanic Amerindian (HA) ancestry. We identify 58 distinct non-HLA regions in EA, 9 in AA and 16 in HA (∼50% of these regions have multiple independent associations); these include 24 novel SLE regions (P
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- 2017
21. Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series
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Magistrelli, Luca, Croce, Roberta, De Marchi, Fabiola, Basagni, Chiara, Carecchio, Miryam, Nasuelli, Nicola, Cantello, Roberto, Invernizzi, Federica, Garavaglia, Barbara, Comi, Cristoforo, Mazzini, Letizia, D’Alfonso, Sandra, and Corrado, Lucia
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- 2021
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22. Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies.
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George, Michaela F, Briggs, Farren BS, Shao, Xiaorong, Gianfrancesco, Milena A, Kockum, Ingrid, Harbo, Hanne F, Celius, Elisabeth G, Bos, Steffan D, Hedström, Anna, Shen, Ling, Bernstein, Allan, Alfredsson, Lars, Hillert, Jan, Olsson, Tomas, Patsopoulos, Nikolaos A, De Jager, Philip L, Oturai, Annette B, Søndergaard, Helle B, Sellebjerg, Finn, Sorensen, Per S, Gomez, Refujia, Caillier, Stacy J, Cree, Bruce AC, Oksenberg, Jorge R, Hauser, Stephen L, D'Alfonso, Sandra, Leone, Maurizio A, Martinelli Boneschi, Filippo, Sorosina, Melissa, van der Mei, Ingrid, Taylor, Bruce V, Zhou, Yuan, Schaefer, Catherine, and Barcellos, Lisa F
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Genetics ,Neurosciences - Abstract
ObjectiveWe investigated the association between 52 risk variants identified through genome-wide association studies and disease severity in multiple sclerosis (MS).MethodsTen unique MS case data sets were analyzed. The Multiple Sclerosis Severity Score (MSSS) was calculated using the Expanded Disability Status Scale at study entry and disease duration. MSSS was considered as a continuous variable and as 2 dichotomous variables (median and extreme ends; MSSS of ≤5 vs >5 and MSSS of
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- 2016
23. Neuroinflammatory Pathways in the ALS-FTD Continuum: A Focus on Genetic Variants
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De Marchi, Fabiola, primary, Tondo, Giacomo, additional, Corrado, Lucia, additional, Menegon, Federico, additional, Aprile, Davide, additional, Anselmi, Matteo, additional, D’Alfonso, Sandra, additional, Comi, Cristoforo, additional, and Mazzini, Letizia, additional
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- 2023
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24. Mitochondrial DNA sequence variation in multiple sclerosis
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Tranah, Gregory J, Santaniello, Adam, Caillier, Stacy J, D'Alfonso, Sandra, Martinelli Boneschi, Filippo, Hauser, Stephen L, and Oksenberg, Jorge R
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Biomedical and Clinical Sciences ,Neurosciences ,Clinical Sciences ,Brain Disorders ,Multiple Sclerosis ,Human Genome ,Clinical Research ,Genetics ,Neurodegenerative ,Aetiology ,2.1 Biological and endogenous factors ,Neurological ,Case-Control Studies ,DNA ,Mitochondrial ,Genetic Predisposition to Disease ,Genetic Variation ,Genome-Wide Association Study ,Haplotypes ,Humans ,Polymorphism ,Single Nucleotide ,White People ,Cognitive Sciences ,Neurology & Neurosurgery ,Clinical sciences - Abstract
ObjectiveTo assess the influence of common mitochondrial DNA (mtDNA) sequence variation on multiple sclerosis (MS) risk in cases and controls part of an international consortium.MethodsWe analyzed 115 high-quality mtDNA variants and common haplogroups from a previously published genome-wide association study among 7,391 cases from the International Multiple Sclerosis Genetics Consortium and 14,568 controls from the Wellcome Trust Case Control Consortium 2 project from 7 countries. Significant single nucleotide polymorphism and haplogroup associations were replicated in 3,720 cases and 879 controls from the University of California, San Francisco.ResultsAn elevated risk of MS was detected among haplogroup JT carriers from 7 pooled clinic sites (odds ratio [OR] = 1.15, 95% confidence interval [CI] = 1.07-1.24, p = 0.0002) included in the discovery study. The increased risk of MS was observed for both haplogroup T (OR = 1.17, 95% CI = 1.06-1.29, p = 0.002) and haplogroup J carriers (OR = 1.11, 95% CI = 1.01-1.22, p = 0.03). These haplogroup associations with MS were not replicated in the independent sample set. An elevated risk of primary progressive (PP) MS was detected for haplogroup J participants from 3 European discovery populations (OR = 1.49, 95% CI = 1.10-2.01, p = 0.009). This elevated risk was borderline significant in the US replication population (OR = 1.43, 95% CI = 0.99-2.08, p = 0.058) and remained significant in pooled analysis of discovery and replication studies (OR = 1.43, 95% CI = 1.14-1.81, p = 0.002). No common individual mtDNA variants were associated with MS risk.ConclusionsIdentification and validation of mitochondrial genetic variants associated with MS and PPMS may lead to new targets for treatment and diagnostic tests for identifying potential responders to interventions that target mitochondria.
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- 2015
25. Analysis of the GCG repeat length in NIPA1 gene in C9orf72-mediated ALS in a large Italian ALS cohort
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Corrado, Lucia, Brunetti, Maura, Di Pierro, Alice, Barberis, Marco, Croce, Roberta, Bersano, Enrica, De Marchi, Fabiola, Zuccalà, Miriam, Barizzone, Nadia, Calvo, Andrea, Moglia, Cristina, Mazzini, Letizia, Chiò, Adriano, and D’Alfonso, Sandra
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- 2019
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26. Neuronorma.
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Urrego, Marcela, primary, Alfonso, Sandra Carolina, additional, and Montañés, Patricia, additional
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- 2020
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27. Neuronorma.
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Mayorga, Pilar, primary, Alfonso, Sandra Carolina, additional, and Montañés, Patricia, additional
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- 2020
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28. Government Performance and Democracy: Survey Experimental Evidence from 12 Countries during Covid-19
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Becher, Michael, primary, Marx, Nicolas Longuet, additional, Pons, Vincent, additional, Brouard, Sylvain, additional, Foucault, Martial, additional, Galasso, Vincenzo, additional, Kerrouche, Eric, additional, Alfonso, Sandra León, additional, and Stegmueller, Daniel, additional
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- 2021
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29. Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
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van Rheenen, Wouter, van der Spek, Rick A. A., Bakker, Mark K., van Vugt, Joke J. F. A., Hop, Paul J., Zwamborn, Ramona A. J., de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B., Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M., Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs H. P., van Eijk, Kristel R., Kooyman, Maarten, Byrne, Ross P., Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N., Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E., Shaw, Pamela J., Hardy, John, Orrell, Richard W., Sendtner, Michael, Meyer, Thomas, Başak, Nazli, van der Kooi, Anneke J., Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D’Alfonso, Sandra, Sorarù, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H., Bell, Shaughn, Vourc’h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stéphanie, Meininger, Vincent, Salachas, François, Mora Pardina, Jesus S., Assialioui, Abdelilah, Rojas-García, Ricardo, Dion, Patrick A., Ross, Jay P., Ludolph, Albert C., Weishaupt, Jochen H., Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine A. M., Saker-Delye, Safa, Wood, Nicholas W., Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, Kraft, Julia, Whiteman, David C., Olsen, Catherine M., Uitterlinden, Andre G., Hofman, Albert, Rietschel, Marcella, Cichon, Sven, Nöthen, Markus M., Amouyel, Philippe, Traynor, Bryan J., Singleton, Andrew B., Mitne Neto, Miguel, Cauchi, Ruben J., Ophoff, Roel A., Wiedau-Pazos, Martina, Lomen-Hoerth, Catherine, van Deerlin, Vivianna M., Grosskreutz, Julian, Roediger, Annekathrin, Gaur, Nayana, Jörk, Alexander, Barthel, Tabea, Theele, Erik, Ilse, Benjamin, Stubendorff, Beatrice, Witte, Otto W., Steinbach, Robert, Hübner, Christian A., Graff, Caroline, Brylev, Lev, Fominykh, Vera, Demeshonok, Vera, Ataulina, Anastasia, Rogelj, Boris, Koritnik, Blaž, Zidar, Janez, Ravnik-Glavač, Metka, Glavač, Damjan, Stević, Zorica, Drory, Vivian, Povedano, Monica, Blair, Ian P., Kiernan, Matthew C., Benyamin, Beben, Henderson, Robert D., Furlong, Sarah, Mathers, Susan, McCombe, Pamela A., Needham, Merrilee, Ngo, Shyuan T., Nicholson, Garth A., Pamphlett, Roger, Rowe, Dominic B., Steyn, Frederik J., Williams, Kelly L., Mather, Karen A., Sachdev, Perminder S., Henders, Anjali K., Wallace, Leanne, de Carvalho, Mamede, Pinto, Susana, Petri, Susanne, Weber, Markus, Rouleau, Guy A., Silani, Vincenzo, Curtis, Charles J., Breen, Gerome, Glass, Jonathan D., Brown, Jr., Robert H., Landers, John E., Shaw, Christopher E., Andersen, Peter M., Groen, Ewout J. N., van Es, Michael A., Pasterkamp, R. Jeroen, Fan, Dongsheng, Garton, Fleur C., McRae, Allan F., Davey Smith, George, Gaunt, Tom R., Eberle, Michael A., Mill, Jonathan, McLaughlin, Russell L., Hardiman, Orla, Kenna, Kevin P., Wray, Naomi R., Tsai, Ellen, Runz, Heiko, Franke, Lude, Al-Chalabi, Ammar, Van Damme, Philip, van den Berg, Leonard H., and Veldink, Jan H.
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- 2022
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30. Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias
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Kaivola, Karri, primary, Chia, Ruth, additional, Ding, Jinhui, additional, Rasheed, Memoona, additional, Fujita, Masashi, additional, Menon, Vilas, additional, Walton, Ronald L., additional, Collins, Ryan L., additional, Billingsley, Kimberley, additional, Brand, Harrison, additional, Talkowski, Michael, additional, Zhao, Xuefang, additional, Dewan, Ramita, additional, Stark, Ali, additional, Ray, Anindita, additional, Solaiman, Sultana, additional, Alvarez Jerez, Pilar, additional, Malik, Laksh, additional, Dawson, Ted M., additional, Rosenthal, Liana S., additional, Albert, Marilyn S., additional, Pletnikova, Olga, additional, Troncoso, Juan C., additional, Masellis, Mario, additional, Keith, Julia, additional, Black, Sandra E., additional, Ferrucci, Luigi, additional, Resnick, Susan M., additional, Tanaka, Toshiko, additional, Topol, Eric, additional, Torkamani, Ali, additional, Tienari, Pentti, additional, Foroud, Tatiana M., additional, Ghetti, Bernardino, additional, Landers, John E., additional, Ryten, Mina, additional, Morris, Huw R., additional, Hardy, John A., additional, Mazzini, Letizia, additional, D'Alfonso, Sandra, additional, Moglia, Cristina, additional, Calvo, Andrea, additional, Serrano, Geidy E., additional, Beach, Thomas G., additional, Ferman, Tanis, additional, Graff-Radford, Neill R., additional, Boeve, Bradley F., additional, Wszolek, Zbigniew K., additional, Dickson, Dennis W., additional, Chiò, Adriano, additional, Bennett, David A., additional, De Jager, Philip L., additional, Ross, Owen A., additional, Dalgard, Clifton L., additional, Gibbs, J. Raphael, additional, Traynor, Bryan J., additional, Scholz, Sonja W., additional, Soltis, Anthony R., additional, Viollet, Coralie, additional, Sukumar, Gauthaman, additional, Alba, Camille, additional, Lott, Nathaniel, additional, McGrath Martinez, Elisa, additional, Tuck, Meila, additional, Singh, Jatinder, additional, Bacikova, Dagmar, additional, Zhang, Xijun, additional, Hupalo, Daniel N., additional, Adeleye, Adelani, additional, Wilkerson, Matthew D., additional, Pollard, Harvey B., additional, Gan-Or, Ziv, additional, Rogaeva, Ekaterina, additional, Brice, Alexis, additional, Lesage, Suzanne, additional, Xiromerisiou, Georgia, additional, Canosa, Antonio, additional, Chio, Adriano, additional, Logroscino, Giancarlo, additional, Mora, Gabriele, additional, Krüger, Reijko, additional, May, Patrick, additional, Alcolea, Daniel, additional, Clarimon, Jordi, additional, Fortea, Juan, additional, Gonzalez-Aramburu, Isabel, additional, Infante, Jon, additional, Lage, Carmen, additional, Lleó, Alberto, additional, Pastor, Pau, additional, Sanchez-Juan, Pascual, additional, Brett, Francesca, additional, Aarsland, Dag, additional, Al-Sarraj, Safa, additional, Attems, Johannes, additional, Gentleman, Steve, additional, Hodges, Angela K., additional, Love, Seth, additional, McKeith, Ian G., additional, Morris, Christopher M., additional, Palmer, Laura, additional, Pickering-Brown, Stuart, additional, Thomas, Alan J., additional, Troakes, Claire, additional, Barrett, Matthew J., additional, Bekris, Lynn M., additional, Faber, Kelley, additional, Flanagan, Margaret E., additional, Goate, Alison, additional, Goldstein, David S., additional, Kaufmann, Horacio, additional, Kukull, Walter A., additional, Leverenz, James B., additional, Lopez, Grisel, additional, Mao, Qinwen, additional, Masliah, Eliezer, additional, Monuki, Edwin, additional, Newell, Kathy L., additional, Palma, Jose-Alberto, additional, Perkins, Matthew, additional, Renton, Alan E., additional, Scherzer, Clemens R., additional, Shakkottai, Vikram G., additional, Sidransky, Ellen, additional, Tayebi, Nahid, additional, Woltjer, Randy, additional, Baloh, Robert H., additional, Bowser, Robert, additional, Broach, James, additional, Camu, William, additional, Cooper-Knock, John, additional, Drepper, Carsten, additional, Drory, Vivian E., additional, Dunckley, Travis L., additional, Feldman, Eva, additional, Fratta, Pietro, additional, Gerhard, Glenn, additional, Gibson, Summer B., additional, Glass, Jonathan D., additional, Harms, Matthew B., additional, Heiman-Patterson, Terry D., additional, Jansson, Lilja, additional, Kirby, Janine, additional, Kwan, Justin, additional, Laaksovirta, Hannu, additional, Landi, Francesco, additional, Le Ber, Isabelle, additional, Lumbroso, Serge, additional, MacGowan, Daniel J.L., additional, Maragakis, Nicholas J., additional, Mouzat, Kevin, additional, Myllykangas, Liisa, additional, Orrell, Richard W., additional, Ostrow, Lyle W., additional, Pamphlett, Roger, additional, Pioro, Erik, additional, Pulst, Stefan M., additional, Ravits, John M., additional, Robberecht, Wim, additional, Rothstein, Jeffrey D., additional, Sendtner, Michael, additional, Shaw, Pamela J., additional, Sidle, Katie C., additional, Simmons, Zachary, additional, Stein, Thor, additional, Stone, David J., additional, Tienari, Pentti J., additional, Valori, Miko, additional, Van Damme, Philip, additional, Van Deerlin, Vivianna M., additional, Van Den Bosch, Ludo, additional, and Zinman, Lorne, additional
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- 2023
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31. Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
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International Multiple Sclerosis Genetics Consortium (IMSGC), Beecham, Ashley H, Patsopoulos, Nikolaos A, Xifara, Dionysia K, Davis, Mary F, Kemppinen, Anu, Cotsapas, Chris, Shah, Tejas S, Spencer, Chris, Booth, David, Goris, An, Oturai, Annette, Saarela, Janna, Fontaine, Bertrand, Hemmer, Bernhard, Martin, Claes, Zipp, Frauke, D'Alfonso, Sandra, Martinelli-Boneschi, Filippo, Taylor, Bruce, Harbo, Hanne F, Kockum, Ingrid, Hillert, Jan, Olsson, Tomas, Ban, Maria, Oksenberg, Jorge R, Hintzen, Rogier, Barcellos, Lisa F, Wellcome Trust Case Control Consortium 2 (WTCCC2), International IBD Genetics Consortium (IIBDGC), Agliardi, Cristina, Alfredsson, Lars, Alizadeh, Mehdi, Anderson, Carl, Andrews, Robert, Søndergaard, Helle Bach, Baker, Amie, Band, Gavin, Baranzini, Sergio E, Barizzone, Nadia, Barrett, Jeffrey, Bellenguez, Céline, Bergamaschi, Laura, Bernardinelli, Luisa, Berthele, Achim, Biberacher, Viola, Binder, Thomas MC, Blackburn, Hannah, Bomfim, Izaura L, Brambilla, Paola, Broadley, Simon, Brochet, Bruno, Brundin, Lou, Buck, Dorothea, Butzkueven, Helmut, Caillier, Stacy J, Camu, William, Carpentier, Wassila, Cavalla, Paola, Celius, Elisabeth G, Coman, Irène, Comi, Giancarlo, Corrado, Lucia, Cosemans, Leentje, Cournu-Rebeix, Isabelle, Cree, Bruce AC, Cusi, Daniele, Damotte, Vincent, Defer, Gilles, Delgado, Silvia R, Deloukas, Panos, di Sapio, Alessia, Dilthey, Alexander T, Donnelly, Peter, Dubois, Bénédicte, Duddy, Martin, Edkins, Sarah, Elovaara, Irina, Esposito, Federica, Evangelou, Nikos, Fiddes, Barnaby, Field, Judith, Franke, Andre, Freeman, Colin, Frohlich, Irene Y, Galimberti, Daniela, Gieger, Christian, Gourraud, Pierre-Antoine, Graetz, Christiane, Graham, Andrew, Grummel, Verena, Guaschino, Clara, Hadjixenofontos, Athena, Hakonarson, Hakon, Halfpenny, Christopher, Hall, Gillian, Hall, Per, Hamsten, Anders, Harley, James, and Harrower, Timothy
- Subjects
International Multiple Sclerosis Genetics Consortium ,Wellcome Trust Case Control Consortium 2 ,International IBD Genetics Consortium ,Humans ,Multiple Sclerosis ,Genetic Predisposition to Disease ,Chromosome Mapping ,Gene Frequency ,Genotype ,Polymorphism ,Single Nucleotide ,Genetic Variation ,Genome-Wide Association Study ,Genetic Loci ,White People ,Neurosciences ,Prevention ,Autoimmune Disease ,Genetics ,Brain Disorders ,Human Genome ,Neurodegenerative ,Aetiology ,2.1 Biological and endogenous factors ,Inflammatory and immune system ,Biological Sciences ,Medical and Health Sciences ,Developmental Biology - Abstract
Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P < 1.0 × 10(-4)). In a replication phase, we combined these data with previous genome-wide association study (GWAS) data from an independent 14,802 subjects with multiple sclerosis and 26,703 healthy controls. In these 80,094 individuals of European ancestry, we identified 48 new susceptibility variants (P < 5.0 × 10(-8)), 3 of which we found after conditioning on previously identified variants. Thus, there are now 110 established multiple sclerosis risk variants at 103 discrete loci outside of the major histocompatibility complex. With high-resolution Bayesian fine mapping, we identified five regions where one variant accounted for more than 50% of the posterior probability of association. This study enhances the catalog of multiple sclerosis risk variants and illustrates the value of fine mapping in the resolution of GWAS signals.
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- 2013
32. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
- Author
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Logullo, Francesco O., Simone, Isabella, Logroscino, Giancarlo, Salvi, Fabrizio, Bartolomei, Ilaria, Borghero, Giuseppe, Murru, Maria Rita, Costantino, Emanuela, Pani, Carla, Puddu, Roberta, Caredda, Carla, Piras, Valeria, Tranquilli, Stefania, Cuccu, Stefania, Corongiu, Daniela, Melis, Maurizio, Milia, Antonio, Marrosu, Francesco, Marrosu, Maria Giovanna, Floris, Gianluca, Cannas, Antonino, Capasso, Margherita, Caponnetto, Claudia, Mancardi, Gianluigi, Origone, Paola, Mandich, Paola, Conforti, Francesca L., Cavallaro, Sebastiano, Mora, Gabriele, Marinou, Kalliopi, Sideri, Riccardo, Penco, Silvana, Mosca, Lorena, Lunetta, Christian, Pinter, Giuseppe Lauria, Corbo, Massimo, Riva, Nilo, Carrera, Paola, Volanti, Paolo, Mandrioli, Jessica, Fini, Nicola, Fasano, Antonio, Tremolizzo, Lucio, Arosio, Alessandro, Ferrarese, Carlo, Trojsi, Francesca, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Piccirillo, Giovanni, Femiano, Cinzia, Ticca, Anna, Ortu, Enzo, La Bella, Vincenzo, Spataro, Rossella, Colletti, Tiziana, Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Santarelli, Marialuisa, Petrucci, Antonio, Pugliatti, Maura, Pirisi, Angelo, Parish, Leslie D., Occhineri, Patrizia, Giannini, Fabio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Cau, Tea B., Loi, Daniela, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Canosa, Antonio, Ilardi, Antonio, Manera, Umberto, Grassano, Maurizio, Tanel, Raffaella, Pisano, Fabrizio, Harms, Matthew B., Goldstein, David B., Shneider, Neil A., Goutman, Stephen, Simmons, Zachary, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Manousakis, Georgios, Appel, Stanley H., Simpson, Ericka, Wang, Leo, Baloh, Robert H., Gibson, Summer, Bedlack, Richard, Lacomis, David, Sareen, Dhruv, Sherman, Alexander, Bruijn, Lucie, Penny, Michelle, Allen, Andrew S., Appel, Stanley, Bedlack, Richard S., Boone, Braden E., Brown, Robert, Carulli, John P., Chesi, Alessandra, Chung, Wendy K., Cirulli, Elizabeth T., Cooper, Gregory M., Couthouis, Julien, Day-Williams, Aaron G., Dion, Patrick A., Gitler, Aaron D., Glass, Jonathan D., Han, Yujun, Harris, Tim, Hayes, Sebastian D., Jones, Angela L., Keebler, Jonathan, Krueger, Brian J., Lasseigne, Brittany N., Levy, Shawn E., Lu, Yi-Fan, Maniatis, Tom, McKenna-Yasek, Diane, Myers, Richard M., Petrovski, Slavé, Pulst, Stefan M., Raphael, Alya R., Ravits, John M., Ren, Zhong, Rouleau, Guy A., Sapp, Peter C., Sims, Katherine B., Staropoli, John F., Waite, Lindsay L., Wang, Quanli, Wimbish, Jack R., Xin, Winnie W., Phatnani, Hemali, Kwan, Justin, Broach, James R., Arcila-Londono, Ximena, Lee, Edward B., Van Deerlin, Vivianna M., Fraenkel, Ernest, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steve, Dardiotis, Efthimios, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos A., Dubnau, Joshua, Nath, Avindra, Kaye, Julia, Finkbeiner, Steven, Wyman, Stacia, LeNail, Alexander, Lima, Leandro, Rothstein, Jeffrey D., Svendsen, Clive N., Van Eyk, Jenny, Maragakis, Nicholas J., Kolb, Stephen J., Cudkowicz, Merit, Baxi, Emily, Benatar, Michael, Taylor, J. Paul, Wu, Gang, Rampersaud, Evadnie, Wuu, Joanne, Rademakers, Rosa, Züchner, Stephan, Schule, Rebecca, McCauley, Jacob, Hussain, Sumaira, Cooley, Anne, Wallace, Marielle, Clayman, Christine, Barohn, Richard, Statland, Jeffrey, Ravits, John, Swenson, Andrea, Jackson, Carlayne, Trivedi, Jaya, Khan, Shaida, Katz, Jonathan, Jenkins, Liberty, Burns, Ted, Gwathmey, Kelly, Caress, James, McMillan, Corey, Elman, Lauren, Pioro, Erik, Heckmann, Jeannine, So, Yuen, Walk, David, Maiser, Samuel, Zhang, Jinghui, Silani, Vincenzo, Ticozzi, Nicola, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P., Sorarù, Gianni, Cereda, Cristina, D’Alfonso, Sandra, Corrado, Lucia, De Marchi, Fabiola, Corti, Stefania, Ceroni, Mauro, Mazzini, Letizia, Siciliano, Gabriele, Filosto, Massimiliano, Inghilleri, Maurizio, Peverelli, Silvia, Colombrita, Claudia, Poletti, Barbara, Maderna, Luca, Del Bo, Roberto, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, Pensato, Viviana, Castellotti, Barbara, Camu, William, Mouzat, Kevin, Lumbroso, Serge, Corcia, Philippe, Meininger, Vincent, Besson, Gérard, Lagrange, Emmeline, Clavelou, Pierre, Guy, Nathalie, Couratier, Philippe, Vourch, Patrick, Danel, Véronique, Bernard, Emilien, Lemasson, Gwendal, Al Kheifat, Ahmad, Al-Chalabi, Ammar, Andersen, Peter, Basak, A. Nazli, Blair, Ian P., Chio, Adriano, Cooper-Knock, Jonathan, de Carvalho, Mamede, Dekker, Annelot, Drory, Vivian, Redondo, Alberto Garcia, Gotkine, Marc, Hardiman, Orla, Hide, Winston, Iacoangeli, Alfredo, Glass, Jonathan, Kenna, Kevin, Kiernan, Matthew, Kooyman, Maarten, Landers, John, McLaughlin, Russell, Middelkoop, Bas, Mill, Jonathan, Neto, Miguel Mitne, Moisse, Mattieu, Pardina, Jesus Mora, Morrison, Karen, Newhouse, Stephen, Pinto, Susana, Pulit, Sara, Robberecht, Wim, Shatunov, Aleksey, Shaw, Pamela, Shaw, Chris, Sproviero, William, Tazelaar, Gijs, van Damme, Philip, van den Berg, Leonard, van der Spek, Rick, van Eijk, Kristel, van Es, Michael, van Rheenen, Wouter, van Vugt, Joke, Veldink, Jan, Weber, Markus, Williams, Kelly L., Zatz, Mayana, Bauer, Denis C., Twine, Natalie A., Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., Murphy, Natalie A., van Vugt, Joke J.F.A., Geiger, Joshua T., Van der Spek, Rick A., Pliner, Hannah A., Shankaracharya, Smith, Bradley N., Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Messina, Sonia, Simone, Isabella L., Ferrucci, Luigi, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C., Wyman, Stacia K., LeNail, Alex, Van Eyk, Jennifer E., Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W., Sidle, Katie C., Hardy, John, Singleton, Andrew B., Johnson, Janel O., Arepalli, Sampath, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, ten Asbroek, Anneloor L.M.A., Muñoz-Blanco, José Luis, Hernandez, Dena G., Ding, Jinhui, Gibbs, J. Raphael, Scholz, Sonja W., Floeter, Mary Kay, Campbell, Roy H., Landi, Francesco, Bowser, Robert, MacGowan, Daniel J.L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Broach, James, Gerhard, Glenn, Dunckley, Travis L., Brady, Christopher B., Kowall, Neil W., Troncoso, Juan C., Le Ber, Isabelle, Heiman-Patterson, Terry D., Kamel, Freya, Van Den Bosch, Ludo, Strom, Tim M., Meitinger, Thomas, Van Eijk, Kristel R., Moisse, Matthieu, McLaughlin, Russell L., Van Es, Michael A., Boylan, Kevin B., Van Blitterswijk, Marka, Morrison, Karen E., Mora, Jesús S., Drory, Vivian E., Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Fifita, Jennifer A., Nicholson, Garth A., Esteban-Pérez, Jesús, García-Redondo, Alberto, Rogaeva, Ekaterina, Zinman, Lorne, Cooper-Knock, Johnathan, Brice, Alexis, Goutman, Stephen A., Feldman, Eva L., Gibson, Summer B., Van Damme, Philip, Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Trojanowski, John Q., Brown, Robert H., Jr., van den Berg, Leonard H., Veldink, Jan H., Stone, David J., Tienari, Pentti, Chiò, Adriano, Shaw, Christopher E., Traynor, Bryan J., and Landers, John E.
- Published
- 2018
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33. Association of Genetic Markers with CSF Oligoclonal Bands in Multiple Sclerosis Patients
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Leone, Maurizio A, Barizzone, Nadia, Esposito, Federica, Lucenti, Ausiliatrice, Harbo, Hanne F, Goris, An, Kockum, Ingrid, Oturai, Annette Bang, Celius, Elisabeth Gulowsen, Mero, Inger L, Dubois, Bénédicte, Olsson, Tomas, Søndergaard, Helle Bach, Cusi, Daniele, Lupoli, Sara, Andreassen, Bettina Kulle, Myhr, Kjell-Morten, Guerini, Franca R, Comi, Giancarlo, Martinelli-Boneschi, Filippo, and D'Alfonso, Sandra
- Subjects
Genetics ,Clinical Research ,Autoimmune Disease ,Human Genome ,Aetiology ,2.1 Biological and endogenous factors ,Adult ,Female ,Genetic Markers ,Genome-Wide Association Study ,HLA-DRB1 Chains ,Humans ,Male ,Meta-Analysis as Topic ,Middle Aged ,Multiple Sclerosis ,Oligoclonal Bands ,Polymorphism ,Single Nucleotide ,Young Adult ,International Multiple Sclerosis Genetics Consortium ,Wellcome Trust Case Control Consortium 2 ,PROGEMUS Group ,PROGRESSO Group ,General Science & Technology - Abstract
Objectiveto explore the association between genetic markers and Oligoclonal Bands (OCB) in the Cerebro Spinal Fluid (CSF) of Italian Multiple Sclerosis patients.MethodsWe genotyped 1115 Italian patients for HLA-DRB1*15 and HLA-A*02. In a subset of 925 patients we tested association with 52 non-HLA SNPs associated with MS susceptibility and we calculated a weighted Genetic Risk Score. Finally, we performed a Genome Wide Association Study (GWAS) with OCB status on a subset of 562 patients. The best associated SNPs of the Italian GWAS were replicated in silico in Scandinavian and Belgian populations, and meta-analyzed.ResultsHLA-DRB1*15 is associated with OCB+: p = 0.03, Odds Ratio (OR) = 1.6, 95% Confidence Limits (CL) = 1.1-2.4. None of the 52 non-HLA MS susceptibility loci was associated with OCB, except one SNP (rs2546890) near IL12B gene (OR: 1.45; 1.09-1.92). The weighted Genetic Risk Score mean was significantly (p = 0.0008) higher in OCB+ (7.668) than in OCB- (7.412) patients. After meta-analysis on the three datasets (Italian, Scandinavian and Belgian) for the best associated signals resulted from the Italian GWAS, the strongest signal was a SNP (rs9320598) on chromosome 6q (p = 9.4×10(-7)) outside the HLA region (65 Mb).Discussiongenetic factors predispose to the development of OCB.
- Published
- 2013
34. Mutational Analysis of Known ALS Genes in an Italian Population-Based Cohort
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Grassano, Maurizio, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Sbaiz, Luca, Canosa, Antonio, Manera, Umberto, Vasta, Rosario, Corrado, Lucia, DʼAlfonso, Sandra, Mazzini, Letizia, Scholz, Sonja W., Dalgard, Clifton, Ding, Jinhui, Gibbs, Raphael J., Chia, Ruth, Traynor, Bryan J., and Chiò, Adriano
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- 2021
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35. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
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International Multiple Sclerosis Genetics Consortium, Wellcome Trust Case Control Consortium 2, Sawcer, Stephen, Hellenthal, Garrett, Pirinen, Matti, Spencer, Chris CA, Patsopoulos, Nikolaos A, Moutsianas, Loukas, Dilthey, Alexander, Su, Zhan, Freeman, Colin, Hunt, Sarah E, Edkins, Sarah, Gray, Emma, Booth, David R, Potter, Simon C, Goris, An, Band, Gavin, Oturai, Annette Bang, Strange, Amy, Saarela, Janna, Bellenguez, Céline, Fontaine, Bertrand, Gillman, Matthew, Hemmer, Bernhard, Gwilliam, Rhian, Zipp, Frauke, Jayakumar, Alagurevathi, Martin, Roland, Leslie, Stephen, Hawkins, Stanley, Giannoulatou, Eleni, D'alfonso, Sandra, Blackburn, Hannah, Martinelli Boneschi, Filippo, Liddle, Jennifer, Harbo, Hanne F, Perez, Marc L, Spurkland, Anne, Waller, Matthew J, Mycko, Marcin P, Ricketts, Michelle, Comabella, Manuel, Hammond, Naomi, Kockum, Ingrid, McCann, Owen T, Ban, Maria, Whittaker, Pamela, Kemppinen, Anu, Weston, Paul, Hawkins, Clive, Widaa, Sara, Zajicek, John, Dronov, Serge, Robertson, Neil, Bumpstead, Suzannah J, Barcellos, Lisa F, Ravindrarajah, Rathi, Abraham, Roby, Alfredsson, Lars, Ardlie, Kristin, Aubin, Cristin, Baker, Amie, Baker, Katharine, Baranzini, Sergio E, Bergamaschi, Laura, Bergamaschi, Roberto, Bernstein, Allan, Berthele, Achim, Boggild, Mike, Bradfield, Jonathan P, Brassat, David, Broadley, Simon A, Buck, Dorothea, Butzkueven, Helmut, Capra, Ruggero, Carroll, William M, Cavalla, Paola, Celius, Elisabeth G, Cepok, Sabine, Chiavacci, Rosetta, Clerget-Darpoux, Françoise, Clysters, Katleen, Comi, Giancarlo, Cossburn, Mark, Cournu-Rebeix, Isabelle, Cox, Mathew B, Cozen, Wendy, Cree, Bruce AC, Cross, Anne H, Cusi, Daniele, Daly, Mark J, Davis, Emma, de Bakker, Paul IW, Debouverie, Marc, D'hooghe, Marie Beatrice, Dixon, Katherine, Dobosi, Rita, Dubois, Bénédicte, and Ellinghaus, David
- Subjects
International Multiple Sclerosis Genetics Consortium ,Wellcome Trust Case Control Consortium 2 ,T-Lymphocytes ,Helper-Inducer ,Humans ,Multiple Sclerosis ,Genetic Predisposition to Disease ,HLA-A Antigens ,HLA-DR Antigens ,Sample Size ,Cell Differentiation ,Immunity ,Cellular ,Major Histocompatibility Complex ,Polymorphism ,Single Nucleotide ,Alleles ,Genome ,Human ,Europe ,Genome-Wide Association Study ,HLA-DRB1 Chains ,Genetics ,Neurosciences ,Neurodegenerative ,Clinical Research ,Brain Disorders ,Autoimmune Disease ,Human Genome ,2.1 Biological and endogenous factors ,Neurological ,Inflammatory and immune system ,General Science & Technology - Abstract
Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk. Modestly powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility. Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups. In a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, we have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci. Within the MHC we have refined the identity of the HLA-DRB1 risk alleles and confirmed that variation in the HLA-A gene underlies the independent protective effect attributable to the class I region. Immunologically relevant genes are significantly overrepresented among those mapping close to the identified loci and particularly implicate T-helper-cell differentiation in the pathogenesis of multiple sclerosis.
- Published
- 2011
36. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
- Author
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Sawcer, Stephen, Hellenthal, Garrett, Pirinen, Matti, Spencer, Chris CA, Patsopoulos, Nikolaos A, Moutsianas, Loukas, Dilthey, Alexander, Su, Zhan, Freeman, Colin, Hunt, Sarah E, Edkins, Sarah, Gray, Emma, Booth, David R, Potter, Simon C, Goris, An, Band, Gavin, Oturai, Annette Bang, Strange, Amy, Saarela, Janna, Bellenguez, Celine, Fontaine, Bertrand, Gillman, Matthew, Hemmer, Bernhard, Gwilliam, Rhian, Zipp, Frauke, Jayakumar, Alagurevathi, Martin, Roland, Leslie, Stephen, Hawkins, Stanley, Giannoulatou, Eleni, D'alfonso, Sandra, Blackburn, Hannah, Boneschi, Filippo Martinelli, Liddle, Jennifer, Harbo, Hanne F, Perez, Marc L, Spurkland, Anne, Waller, Matthew J, Mycko, Marcin P, Ricketts, Michelle, Comabella, Manuel, Hammond, Naomi, Kockum, Ingrid, McCann, Owen T, Ban, Maria, Whittaker, Pamela, Kemppinen, Anu, Weston, Paul, Hawkins, Clive, Widaa, Sara, Zajicek, John, Dronov, Serge, Robertson, Neil, Bumpstead, Suzannah J, Barcellos, Lisa F, Ravindrarajah, Rathi, Abraham, Roby, Alfredsson, Lars, Ardlie, Kristin, Aubin, Cristin, Baker, Amie, Baker, Katharine, Baranzini, Sergio E, Bergamaschi, Laura, Bergamaschi, Roberto, Bernstein, Allan, Berthele, Achim, Boggild, Mike, Bradfield, Jonathan P, Brassat, David, Broadley, Simon A, Buck, Dorothea, Butzkueven, Helmut, Capra, Ruggero, Carroll, William M, Cavalla, Paola, Celius, Elisabeth G, Cepok, Sabine, Chiavacci, Rosetta, Clerget-Darpoux, Francoise, Clysters, Katleen, Comi, Giancarlo, Cossburn, Mark, Cournu-Rebeix, Isabelle, Cox, Mathew B, Cozen, Wendy, Cree, Bruce AC, Cross, Anne H, Cusi, Daniele, Daly, Mark J, Davis, Emma, de Bakker, Paul IW, Debouverie, Marc, D'hooghe, Marie Beatrice, Dixon, Katherine, Dobosi, Rita, Dubois, Benedicte, Ellinghaus, David, Elovaara, Irina, and Esposito, Federica
- Subjects
Neurosciences ,Prevention ,Multiple Sclerosis ,Biotechnology ,Autoimmune Disease ,Genetics ,Brain Disorders ,Human Genome ,Neurodegenerative ,2.1 Biological and endogenous factors ,Aetiology ,Neurological ,Inflammatory and immune system ,Alleles ,Cell Differentiation ,Europe ,Genetic Predisposition to Disease ,Genome ,Human ,Genome-Wide Association Study ,HLA-A Antigens ,HLA-DR Antigens ,HLA-DRB1 Chains ,Humans ,Immunity ,Cellular ,Major Histocompatibility Complex ,Polymorphism ,Single Nucleotide ,Sample Size ,T-Lymphocytes ,Helper-Inducer ,International Multiple Sclerosis Genetics Consortium ,Wellcome Trust Case Control Consortium 2 ,General Science & Technology - Abstract
Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk. Modestly powered genome-wide association studies (GWAS) have enabled more than 20 additional risk loci to be identified and have shown that multiple variants exerting modest individual effects have a key role in disease susceptibility. Most of the genetic architecture underlying susceptibility to the disease remains to be defined and is anticipated to require the analysis of sample sizes that are beyond the numbers currently available to individual research groups. In a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, we have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci. Within the MHC we have refined the identity of the HLA-DRB1 risk alleles and confirmed that variation in the HLA-A gene underlies the independent protective effect attributable to the class I region. Immunologically relevant genes are significantly overrepresented among those mapping close to the identified loci and particularly implicate T-helper-cell differentiation in the pathogenesis of multiple sclerosis.
- Published
- 2011
37. Genetic modifiers have an additive effect on ALS prognosis: a population-based study (S33.004)
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Chio, Adriano, primary, Moglia, Cristina, additional, Canosa, Antonio, additional, Manera, Umberto, additional, Grassano, Maurizio, additional, Vasta, Rosario, additional, Palumbo, Francesca, additional, Brunetti, Maura, additional, De Marchi, Fabiola, additional, Chia, Ruth, additional, Mora, Gabriele, additional, Iazzolino, Barbara, additional, Peotta, Laura, additional, Traynor, Bryan, additional, Corrado, Lucia, additional, D’Alfonso, Sandra, additional, Mazzini, Letizia, additional, and Calvo, Andrea, additional
- Published
- 2023
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38. BRAT1 Mutation Retrospective Diagnosis: A Case Report
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Vercellino, Fabiana, primary, Valerio, Massimo, additional, Dusio, Maria Pia, additional, Spano, Alice, additional, and D'Alfonso, Sandra, additional
- Published
- 2023
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39. Ecosystem Services of Coastal Dune Systems for Hazard Mitigation: Case Studies from Vietnam, Indonesia, and Chile
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Nehren, Udo, Thai, Hoang Ho Dac, Marfai, Muh Aris, Raedig, Claudia, Alfonso, Sandra, Sartohadi, Junun, Castro, Consuelo, Renaud, Fabrice G., editor, Sudmeier-Rieux, Karen, editor, Estrella, Marisol, editor, and Nehren, Udo, editor
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- 2016
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40. Author Correction: Next Generation Sequencing of Pooled Samples: Guideline for Variants’ Filtering
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Anand, Santosh, Mangano, Eleonora, Barizzone, Nadia, Bordoni, Roberta, Sorosina, Melissa, Clarelli, Ferdinando, Corrado, Lucia, Martinelli Boneschi, Filippo, D’Alfonso, Sandra, and De Bellis, Gianluca
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- 2020
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41. ALS phenotype is influenced by age, sex, and genetics: A population-based study
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Chiò, Adriano, Moglia, Cristina, Canosa, Antonio, Manera, Umberto, DʼOvidio, Fabrizio, Vasta, Rosario, Grassano, Maurizio, Brunetti, Maura, Barberis, Marco, Corrado, Lucia, DʼAlfonso, Sandra, Iazzolino, Barbara, Peotta, Laura, Sarnelli, Maria Francesca, Solara, Valentina, Zucchetti, Jean Pierre, De Marchi, Fabiola, Mazzini, Letizia, Mora, Gabriele, and Calvo, Andrea
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- 2020
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42. Cognitive impairment across ALS clinical stages in a population-based cohort
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Chiò, Adriano, Moglia, Cristina, Canosa, Antonio, Manera, Umberto, Vasta, Rosario, Brunetti, Maura, Barberis, Marco, Corrado, Lucia, DʼAlfonso, Sandra, Bersano, Enrica, Sarnelli, Maria Francesca, Solara, Valentina, Zucchetti, Jean Pierre, Peotta, Laura, Iazzolino, Barbara, Mazzini, Letizia, Mora, Gabriele, and Calvo, Andrea
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- 2019
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43. Association of Copresence of Pathogenic Variants Related to Amyotrophic Lateral Sclerosis and Prognosis.
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Chiò, Adriano, Moglia, Cristina, Canosa, Antonio, Manera, Umberto, Grassano, Maurizio, Vasta, Rosario, Palumbo, Francesca, Gallone, Salvatore, Brunetti, Maura, Barberis, Marco, De Marchi, Fabiola, Dalgard, Clifton, Chia, Ruth, Mora, Gabriele, Iazzolino, Barbara, Peotta, Laura, Traynor, Bryan J., Corrado, Lucia, D'Alfonso, Sandra, and Mazzini, Letizia
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- 2023
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44. COVID-19 and Health Outcomes in People with Multiple Sclerosis: A Population-Based Study in Italy.
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Gnavi, Roberto, Eboli, Ilenia, Alboini, Paolo Emilio, D'Alfonso, Sandra, Picariello, Roberta, Costa, Giuseppe, and Leone, Maurizio
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COVID-19 pandemic ,MULTIPLE sclerosis ,COVID-19 ,ELECTRONIC health records ,INTENSIVE care units ,HOSPITAL admission & discharge - Abstract
People with multiple sclerosis (PWMS) are at high risk of being affected by the disruption of health services that occurred during the COVID-19 pandemic months. The aim of this study was to evaluate the effect of the pandemic on the health outcomes of PWMS. PWMS and MS-free residing in Piedmont (north-west of Italy) were identified from electronic health records and linked with the regional COVID-19 database, the hospital-discharge database, and the population registry. Both cohorts (9333 PWMS and 4,145,856 MS-free persons) were followed-up for access to swab testing, hospitalisation, access to the Intensive Care Unit (ICU), and death from 22 February 2020 to 30 April 2021. The relationship between the outcomes and MS was evaluated using a logistic model, which was adjusted for potential confounders. The rate of swab testing was higher in PWMS, but the positivity to infection was similar to that of MS-free subjects. PWMS had a higher risk of hospitalisation (OR = 1.74; 95% IC, 1.41–2.14), admission to ICU (OR = 1.79; 95% IC, 1.17–2.72), and a slight, albeit not statistically significant, increase in mortality (OR = 1.28; 95% IC, 0.79–2.06). Compared to the general population PWMS with COVID-19 had an increased risk of hospitalization and admission to the ICU; the mortality rate did not differ. [ABSTRACT FROM AUTHOR]
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- 2023
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45. The multistep hypothesis of ALS revisited: The role of genetic mutations
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Chiò, Adriano, Mazzini, Letizia, DʼAlfonso, Sandra, Corrado, Lucia, Canosa, Antonio, Moglia, Cristina, Manera, Umberto, Bersano, Enrica, Brunetti, Maura, Barberis, Marco, Veldink, Jan H., van den Berg, Leonard H., Pearce, Neil, Sproviero, William, McLaughlin, Russell, Vajda, Alice, Hardiman, Orla, Rooney, James, Mora, Gabriele, Calvo, Andrea, and Al-Chalabi, Ammar
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- 2018
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46. The additive effect of genetic modifiers on ALS prognosis: a population-based study
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Chiò, Adriano, primary, Moglia, Cristina, additional, Canosa, Antonio, additional, Manera, Umberto, additional, Grassano, Maurizio, additional, Vasta, Rosario, additional, Palumbo, Francesca, additional, Gallone, Salvatore, additional, Brunetti, Maura, additional, Barberis, Marco, additional, De Marchi, Fabiola, additional, Dalgard, Clifton, additional, Chia, Ruth, additional, Mora, Gabriele, additional, Iazzolino, Barbara, additional, Peotta, Laura, additional, Traynor, Bryan, additional, Corrado, Lucia, additional, D’Alfonso, Sandra, additional, Mazzini, Letizia, additional, and Calvo, Andrea, additional
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- 2022
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47. A Scoping Review on Body Fluid Biomarkers for Prognosis and Disease Activity in Patients with Multiple Sclerosis
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Barizzone, Nadia, primary, Leone, Maurizio, additional, Pizzino, Alessandro, additional, Kockum, Ingrid, additional, Martinelli-Boneschi, Filippo, additional, and D’Alfonso, Sandra, additional
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- 2022
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48. Exploring the phenotype of Italian patients with ALS with intermediate ATXN2 polyQ repeats
- Author
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Chio, Adriano, primary, Moglia, Cristina, additional, Canosa, Antonio, additional, Manera, Umberto, additional, Grassano, Maurizio, additional, Vasta, Rosario, additional, Palumbo, Francesca, additional, Gallone, Salvatore, additional, Brunetti, Maura, additional, Barberis, Marco, additional, De Marchi, Fabiola, additional, Dalgard, Clifton, additional, Chia, Ruth, additional, Mora, Gabriele, additional, Iazzolino, Barbara, additional, Peotta, Laura, additional, Traynor, Bryan, additional, Corrado, Lucia, additional, D'Alfonso, Sandra, additional, Mazzini, Letizia, additional, and Calvo, Andrea, additional
- Published
- 2022
- Full Text
- View/download PDF
49. Coexistence and Territorial Polarization in Spain
- Author
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Garmendia, Amuitz, Alfonso, Sandra, Dinas, Elias, and Sola, Manuel
- Subjects
Social and Behavioral Sciences - Abstract
While affective political polarization is frequently studied across partisan groups (Harteveld 2021; Iyengar and Westwood 2015; Lelkes, Sood, and Iyengar 2017; Mason 2015; Reiljan 2020; Wagner 2021), research also shows that identity-based polarization exists beyond partisan divides (Hobolt, Leeper, and Tilley 2020). Building on this insight, we develop the concept of territorial affective polarization, which we believe is driven by the intersection of region/administrative/political unit-based identities and inter-unit grievances. Using three survey experiments, we are interested in capturing the extent and nature of affect/disaffect between people living in different territorial units in Spain, a quasi-federation with frequent interregional centrifugal competition for higher levels of self-rule. The designed questionnaire, as well as each of the experiments explained below, all aim at capturing different aspects of territorial affective polarization: its levels and interregional dynamics, its effect on accountability processes, elements of its nature, as well as its potential moderators.
- Published
- 2022
- Full Text
- View/download PDF
50. The impact of coronavirus on territorial politics
- Author
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Alfonso, Sandra and Garmendia, Amuitz
- Subjects
Social and Behavioral Sciences - Abstract
The impact of coronavirus on territorial politics
- Published
- 2022
- Full Text
- View/download PDF
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