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Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture
- Chia, Ruth;
- Sabir, Marya S;
- Bandres-Ciga, Sara;
- Saez-Atienzar, Sara;
- Reynolds, Regina H;
- Gustavsson, Emil;
- Walton, Ronald L;
- Ahmed, Sarah;
- Viollet, Coralie;
- Ding, Jinhui;
- Makarious, Mary B;
- Diez-Fairen, Monica;
- Portley, Makayla K;
- Shah, Zalak;
- Abramzon, Yevgeniya;
- Hernandez, Dena G;
- Blauwendraat, Cornelis;
- Stone, David J;
- Eicher, John;
- Parkkinen, Laura;
- Ansorge, Olaf;
- Clark, Lorraine;
- Honig, Lawrence S;
- Marder, Karen;
- Lemstra, Afina;
- St George-Hyslop, Peter;
- Londos, Elisabet;
- Morgan, Kevin;
- Lashley, Tammaryn;
- Warner, Thomas T;
- Jaunmuktane, Zane;
- Galasko, Douglas;
- Santana, Isabel;
- Tienari, Pentti J;
- Myllykangas, Liisa;
- Oinas, Minna;
- Cairns, Nigel J;
- Morris, John C;
- Halliday, Glenda M;
- Van Deerlin, Vivianna M;
- Trojanowski, John Q;
- Grassano, Maurizio;
- Calvo, Andrea;
- Mora, Gabriele;
- Canosa, Antonio;
- Floris, Gianluca;
- Bohannan, Ryan C;
- Brett, Francesca;
- Gan-Or, Ziv;
- Geiger, Joshua T;
- Moore, Anni;
- May, Patrick;
- Krüger, Rejko;
- Goldstein, David S;
- Lopez, Grisel;
- Tayebi, Nahid;
- Sidransky, Ellen;
- Norcliffe-Kaufmann, Lucy;
- Palma, Jose-Alberto;
- Kaufmann, Horacio;
- Shakkottai, Vikram G;
- Perkins, Matthew;
- Newell, Kathy L;
- Gasser, Thomas;
- Schulte, Claudia;
- Landi, Francesco;
- Salvi, Erika;
- Cusi, Daniele;
- Masliah, Eliezer;
- Kim, Ronald C;
- Caraway, Chad A;
- Monuki, Edwin S;
- Brunetti, Maura;
- Dawson, Ted M;
- Rosenthal, Liana S;
- Albert, Marilyn S;
- Pletnikova, Olga;
- Troncoso, Juan C;
- Flanagan, Margaret E;
- Mao, Qinwen;
- Bigio, Eileen H;
- Rodríguez-Rodríguez, Eloy;
- Infante, Jon;
- Lage, Carmen;
- González-Aramburu, Isabel;
- Sanchez-Juan, Pascual;
- Ghetti, Bernardino;
- Keith, Julia;
- Black, Sandra E;
- Masellis, Mario;
- Rogaeva, Ekaterina;
- Duyckaerts, Charles;
- Brice, Alexis;
- Lesage, Suzanne;
- Xiromerisiou, Georgia;
- Barrett, Matthew J;
- Tilley, Bension S;
- Gentleman, Steve;
- Logroscino, Giancarlo;
- Serrano, Geidy E;
- Beach, Thomas G;
- McKeith, Ian G;
- Thomas, Alan J;
- Attems, Johannes;
- Morris, Christopher M;
- Palmer, Laura;
- Love, Seth;
- Troakes, Claire;
- Al-Sarraj, Safa;
- Hodges, Angela K;
- Aarsland, Dag;
- Klein, Gregory;
- Kaiser, Scott M;
- Woltjer, Randy;
- Pastor, Pau;
- Bekris, Lynn M;
- Leverenz, James B;
- Besser, Lilah M;
- Kuzma, Amanda;
- Renton, Alan E;
- Goate, Alison;
- Bennett, David A;
- Scherzer, Clemens R;
- Morris, Huw R;
- Ferrari, Raffaele;
- Albani, Diego;
- Pickering-Brown, Stuart;
- Faber, Kelley;
- Kukull, Walter A;
- Morenas-Rodriguez, Estrella;
- Lleó, Alberto;
- Fortea, Juan;
- Alcolea, Daniel;
- Clarimon, Jordi;
- Nalls, Mike A;
- Ferrucci, Luigi;
- Resnick, Susan M;
- Tanaka, Toshiko;
- Foroud, Tatiana M;
- Graff-Radford, Neill R;
- Wszolek, Zbigniew K;
- Ferman, Tanis;
- Boeve, Bradley F;
- Hardy, John A;
- Topol, Eric J;
- Torkamani, Ali;
- Singleton, Andrew B;
- Ryten, Mina;
- Dickson, Dennis W;
- Chiò, Adriano;
- Ross, Owen A;
- Gibbs, J Raphael;
- Dalgard, Clifton L;
- Traynor, Bryan J;
- Scholz, Sonja W
Published Web Location
https://doi.org/10.1038/s41588-021-00785-3Abstract
The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia, and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer's disease and Parkinson's disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition.
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