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1. Genetic vulnerability and adverse mental health outcomes following mild traumatic brain injury: a meta-analysis of CENTER-TBI and TRACK-TBI cohorts.

Author

Kals, Mart, Wilson, Lindsay, Levey, Daniel, Parodi, Livia, Steyerberg, Ewout, Richardson, Sylvia, He, Feng, Sun, Xiaoying, Jain, Sonia, Palotie, Aarno, Ripatti, Samuli, Rosand, Jonathan, Manley, Geoff, Maas, Andrew, Stein, Murray, and Menon, David

Subjects
Depression, Mental health, Polygenic risk score, Post-traumatic stress disorder, Traumatic brain injury
Abstract

BACKGROUND: Post-traumatic stress disorder (PTSD) and depression are common after mild traumatic brain injury (mTBI), but their biological drivers are uncertain. We therefore explored whether polygenic risk scores (PRS) derived for PTSD and major depressive disorder (MDD) are associated with the development of cognate TBI-related phenotypes. METHODS: Meta-analyses were conducted using data from two multicenter, prospective observational cohort studies of patients with mTBI: the CENTER-TBI study (ClinicalTrials.gov ID NCT02210221) in Europe (December 2014-December 2017) and the TRACK-TBI study in the US (March 2014-July 2018). In both cohorts, the most common causes of injury were road traffic accidents and falls. Primary outcomes, specifically probable PTSD and depression, were defined at 6 months post-injury using scores ≥33 on the PTSD Checklist-5 and ≥15 on the Patient Health Questionnaire-9, respectively. We calculated PTSD-PRS and MDD-PRS for patients aged ≥17 years who had a Glasgow Coma Scale score of 13-15 upon hospital arrival and assessed their association with PTSD and depression following TBI. We also evaluated the transferability of the findings in a cohort of African Americans. FINDINGS: Overall, 11.8% (219/1869) and 6.7% (124/1869) patients were classified as having probable PTSD and depression, respectively. The PTSD-PRS was significantly associated with higher adjusted odds of PTSD in both cohorts, with a pooled odds ratio (OR) of 1.55 [95% confidence interval (CI) 1.30-1.84, p

Published
2024

3. Polygenic risk for mental disorders as predictors of posttraumatic stress disorder after mild traumatic brain injury.

Author

Stein, Murray B, Jain, Sonia, Parodi, Livia, Choi, Karmel W, Maihofer, Adam X, Nelson, Lindsay D, Mukherjee, Pratik, Sun, Xiaoying, He, Feng, Okonkwo, David O, Giacino, Joseph T, Korley, Frederick K, Vassar, Mary J, Robertson, Claudia S, McCrea, Michael A, Temkin, Nancy, Markowitz, Amy J, Diaz-Arrastia, Ramon, Rosand, Jonathan, Manley, Geoffrey T, and TRACK-TBI Investigators

Subjects
TRACK-TBI Investigators, Humans, Brain Concussion, Longitudinal Studies, Prospective Studies, Stress Disorders, Post-Traumatic, Depressive Disorder, Major, Traumatic Head and Spine Injury, Mental Health, Post-Traumatic Stress Disorder (PTSD), Neurosciences, Brain Disorders, Physical Injury - Accidents and Adverse Effects, Anxiety Disorders, Clinical Research, Traumatic Brain Injury (TBI), Serious Mental Illness, Mental health, Good Health and Well Being, Clinical Sciences, Public Health and Health Services, Psychology
Abstract

Many patients with mild traumatic brain injury (mTBI) are at risk for mental health problems such as posttraumatic stress disorder (PTSD). The objective of this study was to determine whether the polygenic risk for PTSD (or for related mental health disorders or traits including major depressive disorder [MDD] and neuroticism [NEU]) was associated with an increased likelihood of PTSD in the aftermath of mTBI. We used data from individuals of European ancestry with mTBI enrolled in TRACK-TBI (n = 714), a prospective longitudinal study of level 1 trauma center patients. One hundred and sixteen mTBI patients (16.3%) had probable PTSD (PCL-5 score ≥33) at 6 months post-injury. We used summary statistics from recent GWAS studies of PTSD, MDD, and NEU to generate polygenic risk scores (PRS) for individuals in our sample. A multivariable model that included age, sex, pre-injury history of mental disorder, and cause of injury explained 7% of the variance in the PTSD outcome; the addition of the PTSD-PRS (and five ancestral principal components) significantly increased the variance explained to 11%. The adjusted odds of PTSD in the uppermost PTSD-PRS quintile was nearly four times higher (aOR = 3.71, 95% CI 1.80-7.65) than in the lowest PTSD-PRS quintile. There was no evidence of a statistically significant interaction between PTSD-PRS and prior history of mental disorder, indicating that PTSD-PRS had similar predictive utility among those with and without pre-injury psychiatric illness. When added to the model, neither MDD-PRS nor NEU-PRS were significantly associated with the PTSD outcome. These findings show that the risk for PTSD in the context of mTBI is, in part, genetically influenced. They also raise the possibility that an individual's PRS could be clinically actionable if used-possibly with other non-genetic predictors-to signal the need for enhanced follow-up and early intervention; this precision medicine approach needs to be prospectively studied.

Published
2023

4. Genetic vulnerability and adverse mental health outcomes following mild traumatic brain injury: a meta-analysis of CENTER-TBI and TRACK-TBI cohorts

Author

Ackerlund, Cecilia, Adams, Hadie, Amrein, Krisztina, Andelic, Nada, Andreassen, Lasse, Anke, Audny, Antoni, Anna, Audibert, Gérard, Azouvi, Philippe, Azzolini, Maria Luisa, Bartels, Ronald, Barzó, Pál, Beauvais, Romuald, Beer, Ronny, Bellander, Bo-Michael, Belli, Antonio, Benali, Habib, Berardino, Maurizio, Beretta, Luigi, Blaabjerg, Morten, Bragge, Peter, Brazinova, Alexandra, Brinck, Vibeke, Brooker, Joanne, Brorsson, Camilla, Buki, Andras, Bullinger, Monika, Cabeleira, Manuel, Caccioppola, Alessio, Calappi, Emiliana, Calvi, Maria Rosa, Cameron, Peter, Lozano, Guillermo Carbayo, Carbonara, Marco, Castaño-León, Ana M., Cavallo, Simona, Chevallard, Giorgio, Chieregato, Arturo, Citerio, Giuseppe, Clusmann, Hans, Coburn, Mark Steven, Coles, Jonathan, Cooper, Jamie D., Correia, Marta, Čović, Amra, Curry, Nicola, Czeiter, Endre, Czosnyka, Marek, Dahyot-Fizelier, Claire, Dark, Paul, Dawes, Helen, De Keyser, Véronique, Degos, Vincent, Della Corte, Francesco, Boogert, Hugo den, Depreitere, Bart, Đilvesi, Đula, Dixit, Abhishek, Donoghue, Emma, Dreier, Jens, Dulière, Guy-Loup, Ercole, Ari, Esser, Patrick, Ezer, Erzsébet, Fabricius, Martin, Feigin, Valery L., Foks, Kelly, Frisvold, Shirin, Furmanov, Alex, Gagliardo, Pablo, Galanaud, Damien, Gantner, Dashiell, Gao, Guoyi, George, Pradeep, Ghuysen, Alexandre, Giga, Lelde, Glocker, Ben, Golubović, Jagoš, Gomez, Pedro A., Gratz, Johannes, Gravesteijn, Benjamin, Grossi, Francesca, Gruen, Russell L., Gupta, Deepak, Haagsma, Juanita A., Haitsma, Iain, Helbok, Raimund, Helseth, Eirik, Horton, Lindsay, Huijben, Jilske, Hutchinson, Peter J., Jacobs, Bram, Jankowski, Stefan, Jarrett, Mike, Jiang, Ji-yao, Johnson, Faye, Jones, Kelly, Karan, Mladen, Kolias, Angelos G., Kompanje, Erwin, Kondziella, Daniel, Koskinen, Lars-Owe, Kovács, Noémi, Kowark, Ana, Lagares, Alfonso, Lanyon, Linda, Laureys, Steven, Lecky, Fiona, Ledoux, Didier, Lefering, Rolf, Legrand, Valerie, Lejeune, Aurelie, Levi, Leon, Lightfoot, Roger, Lingsma, Hester, Maegele, Marc, Majdan, Marek, Manara, Alex, Maréchal, Hugues, Martino, Costanza, Mattern, Julia, McFadyen, Charles, McMahon, Catherine, Melegh, Béla, Menovsky, Tomas, Mikolic, Ana, Misset, Benoit, Muraleedharan, Visakh, Murray, Lynnette, Negru, Ancuta, Nelson, David, Newcombe, Virginia, Nieboer, Daan, Nyirádi, József, Oresic, Matej, Ortolano, Fabrizio, Otesile, Olubukola, Parizel, Paul M., Payen, Jean-François, Perera, Natascha, Perlbarg, Vincent, Persona, Paolo, Peul, Wilco, Piippo-Karjalainen, Anna, Pirinen, Matti, Pisica, Dana, Ples, Horia, Polinder, Suzanne, Pomposo, Inigo, Posti, Jussi P., Puybasset, Louis, Rădoi, Andreea, Ragauskas, Arminas, Raj, Rahul, Rambadagalla, Malinka, Rehorčíková, Veronika, Helmrich, Isabel Retel, Rhodes, Jonathan, Richter, Sophie, Rocka, Saulius, Roe, Cecilie, Roise, Olav, Rosenfeld, Jeffrey, Rosenlund, Christina, Rosenthal, Guy, Rossaint, Rolf, Rossi, Sandra, Rueckert, Daniel, Rusnák, Martin, Sahuquillo, Juan, Sakowitz, Oliver, Sanchez-Porras, Renan, Sandor, Janos, Schäfer, Nadine, Schmidt, Silke, Schoechl, Herbert, Schoonman, Guus, Schou, Rico Frederik, Schwendenwein, Elisabeth, Sewalt, Charlie, Singh, Ranjit D., Skandsen, Toril, Smielewski, Peter, Sorinola, Abayomi, Stamatakis, Emmanuel, Stanworth, Simon, Stevens, Robert, Stewart, William, Stocchetti, Nino, Sundström, Nina, Takala, Riikka, Tamás, Viktória, Tamosuitis, Tomas, Taylor, Mark Steven, Te Ao, Braden, Tenovuo, Olli, Theadom, Alice, Thibaut, Aurore, Thomas, Matt, Tibboel, Dick, Timmers, Marjolijn, Tolias, Christos, Trapani, Tony, Tudora, Cristina Maria, Unterberg, Andreas, Vajkoczy, Peter, Valeinis, Egils, Vallance, Shirley, Vámos, Zoltán, van der Jagt, Mathieu, van der Naalt, Joukje, Van der Steen, Gregory, van Dijck, Jeroen T.J.M., van Erp, Inge A., van Essen, Thomas A., Van Hecke, Wim, van Heugten, Caroline, Van Praag, Dominique, van Veen, Ernest, van Wijk, Roel, Vyvere, Thijs Vande, Vargiolu, Alessia, Vega, Emmanuel, Velt, Kimberley, Verheyden, Jan, Vespa, Paul M., Vik, Anne, Vilcinis, Rimantas, Volovici, Victor, von Steinbüchel, Nicole, Voormolen, Daphne, Vulekovic, Peter, Whitehouse, Daniel, Wiegers, Eveline, Williams, Guy, Wolf, Stefan, Yang, Zhihui, Ylén, Peter, Younsi, Alexander, Zeiler, Frederick A., Ziverte, Agate, Zoerle, Tommaso, Adeoye, Opeolu, Badjatia, Neeraj, Barber, Jason, Bergin, Michael, Boase, Kim, Bodien, Yelena, Chesnut, Randall, Corrigan, John, Crawford, Karen, Diaz-Arrastia, Ramon, Dikmen, Sureyya, Duhaime, Ann-Christine, Ellenbogen, Richard, Feeser, Venkata, Ferguson, Adam R., Foreman, Brandon, Gaudette, Etienne, Giacino, Joseph, Gonzalez, Luis, Gopinath, Shankar, Grandhi, Ramesh, Gullapalli, Rao, Hemphill, Claude, Hotz, Gillian, Huie, Russell, Jha, Ruchira, Keene, Dirk C., Kitagawa, Ryan, Korley, Frederick, Kramer, Joel, Kreitzer, Natalie, Levin, Harvey, Lindsell, Chris, Machamer, Joan, Madden, Christopher, Martin, Alastair, McAllister, Thomas, McCrea, Michael, Merchant, Randall, Mukherjee, Pratik, Nelson, Lindsay, Ngwenya, Laura B., Noel, Florence, Nolan, Amber, Okonkwo, David, Palacios, Eva, Perl, Daniel, Puccio, Ava, Rabinowitz, Miri, Robertson, Claudia, Ben Rodgers, Richard, Rosenthal, Eric, Sander, Angelle, Sandsmark, Danielle, Schneider, Andrea, Schnyer, David, Seabury, Seth, Sherer, Mark, Sugar, Gabriella, Temkin, Nancy, Toga, Arthur, Torres-Espin, Abel, Valadka, Alex, Vassar, Mary, Wang, Kevin, Wang, Vincent, Yue, John K., Yuh, Esther, Zafonte, Ross, Kals, Mart, Wilson, Lindsay, Levey, Daniel F., Parodi, Livia, Steyerberg, Ewout W., Richardson, Sylvia, He, Feng, Sun, Xiaoying, Jain, Sonia, Palotie, Aarno, Ripatti, Samuli, Rosand, Jonathan, Manley, Geoff T., Maas, Andrew I.R., Stein, Murray B., and Menon, David K.

Published
2024
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5. A genome-wide association study of outcome from traumatic brain injury

Author

Kals, Mart, Kunzmann, Kevin, Parodi, Livia, Radmanesh, Farid, Wilson, Lindsay, Izzy, Saef, Anderson, Christopher D, Puccio, Ava M, Okonkwo, David O, Temkin, Nancy, Steyerberg, Ewout W, Stein, Murray B, Manley, Geoff T, Maas, Andrew IR, Richardson, Sylvia, Diaz-Arrastia, Ramon, Palotie, Aarno, Ripatti, Samuli, Rosand, Jonathan, Menon, David K, Åkerlund, Cecilia, Amrein, Krisztina, Andelic, Nada, Andreassen, Lasse, Anke, Audny, Antoni, Anna, Audibert, Gérard, Azouvi, Philippe, Azzolini, Maria Luisa, Bartels, Ronald, Barzó, Pál, Beauvais, Romuald, Beer, Ronny, Bellander, Bo-Michael, Belli, Antonio, Benali, Habib, Berardino, Maurizio, Beretta, Luigi, Blaabjerg, Morten, Bragge, Peter, Brazinova, Alexandra, Brinck, Vibeke, Brooker, Joanne, Brorsson, Camilla, Buki, Andras, Bullinger, Monika, Cabeleira, Manuel, Caccioppola, Alessio, Calappi, Emiliana, Calvi, Maria Rosa, Cameron, Peter, Lozano, Guillermo Carbayo, Carbonara, Marco, Cavallo, Simona, Chevallard, Giorgio, Chieregato, Arturo, Citerio, Giuseppe, Clusmann, Hans, Coburn, Mark, Coles, Jonathan P, Cooper, Jamie D, Correia, Marta, Čović, Amra, Curry, Nicola, Czeiter, Endre, Czosnyka, Marek, DahyotFizelier, Claire, Dark, Paul, Dawes, Helen, De Keyser, Véronique, Degos, Vincent, Corte, Francesco Della, Boogert, Hugo den, Depreitere, Bart, Đilvesi, Đula, Dixit, Abhishek, Donoghue, Emma, Dreier, Jens, Dulière, GuyLoup, Ercole, Ari, Esser, Patrick, Ezer, Erzsébet, Fabricius, Martin, Feigin, Valery L, Foks, Kelly, Frisvold, Shirin, Furmanov, Alex, Gagliardo, Pablo, Galanaud, Damien, Gantner, Dashiell, Gao, Guoyi, George, Pradeep, Ghuysen, Alexandre, Giga, Lelde, Glocker, Ben, Golubovic, Jagoš, Gomez, Pedro A, Gratz, Johannes, Gravesteijn, Benjamin, and Grossi, Francesca

Subjects
Epidemiology, Health Sciences, Traumatic Head and Spine Injury, Genetics, Physical Injury - Accidents and Adverse Effects, Neurosciences, Brain Disorders, Human Genome, Traumatic Brain Injury (TBI), Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Brain Injuries, Traumatic, Genome-Wide Association Study, Humans, Mannose-Binding Lectin, Prospective Studies, Transcriptome, Traumatic brain injury, Genome-Wide association study, Outcome, Recovery, Consortia, Genetic Associations In Neurotrauma (GAIN) Consortium, Clinical Sciences, Public Health and Health Services, Clinical sciences
Abstract

BackgroundFactors such as age, pre-injury health, and injury severity, account for less than 35% of outcome variability in traumatic brain injury (TBI). While some residual outcome variability may be attributable to genetic factors, published candidate gene association studies have often been underpowered and subject to publication bias.MethodsWe performed the first genome- and transcriptome-wide association studies (GWAS, TWAS) of genetic effects on outcome in TBI. The study population consisted of 5268 patients from prospective European and US studies, who attended hospital within 24 h of TBI, and satisfied local protocols for computed tomography.FindingsThe estimated heritability of TBI outcome was 0·26. GWAS revealed no genetic variants with genome-wide significance (p < 5 × 10-8), but identified 83 variants in 13 independent loci which met a lower pre-specified sub-genomic statistical threshold (p < 10-5). Similarly, none of the genes tested in TWAS met tissue-wide significance. An exploratory analysis of 75 published candidate variants associated with 28 genes revealed one replicable variant (rs1800450 in the MBL2 gene) which retained significance after correction for multiple comparison (p = 5·24 × 10-4).InterpretationWhile multiple novel loci reached less stringent thresholds, none achieved genome-wide significance. The overall heritability estimate, however, is consistent with the hypothesis that common genetic variation substantially contributes to inter-individual variability in TBI outcome. The meta-analytic approach to the GWAS and the availability of summary data allows for a continuous extension with additional cohorts as data becomes available.FundingA full list of funding bodies that contributed to this study can be found in the Acknowledgements section.

Published
2022

6. Individual perception of environmental factors that influence lower limbs spasticity in inherited spastic paraparesis

Author

Lallemant-Dudek, Pauline, MD, Parodi, Livia, PhD, Coarelli, Giulia, MD, Heinzmann, Anna, MD, Charles, Perrine, MD PhD, Ewenczyk, Claire, MD, PhD, Fenu, Silvia, MD, Monin, Marie-Lorraine, MD, Corcia, Philippe, MD PhD, Depienne, Christel, PhD, Mochel, Fanny, MD, PhD, Benard, Jean, PhD, Tezenas du Montcel, Sophie, MD, and Durr, Alexandra, MD, PhD

Published
2023
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7. Stroke genetics informs drug discovery and risk prediction across ancestries

Author

Mishra, Aniket, Malik, Rainer, Hachiya, Tsuyoshi, Jürgenson, Tuuli, Namba, Shinichi, Posner, Daniel C., Kamanu, Frederick K., Koido, Masaru, Le Grand, Quentin, Shi, Mingyang, He, Yunye, Georgakis, Marios K., Caro, Ilana, Krebs, Kristi, Liaw, Yi-Ching, Vaura, Felix C., Lin, Kuang, Winsvold, Bendik Slagsvold, Srinivasasainagendra, Vinodh, Parodi, Livia, Bae, Hee-Joon, Chauhan, Ganesh, Chong, Michael R., Tomppo, Liisa, Akinyemi, Rufus, Roshchupkin, Gennady V., Habib, Naomi, Jee, Yon Ho, Thomassen, Jesper Qvist, Abedi, Vida, Cárcel-Márquez, Jara, Nygaard, Marianne, Leonard, Hampton L., Yang, Chaojie, Yonova-Doing, Ekaterina, Knol, Maria J., Lewis, Adam J., Judy, Renae L., Ago, Tetsuro, Amouyel, Philippe, Armstrong, Nicole D., Bakker, Mark K., Bartz, Traci M., Bennett, David A., Bis, Joshua C., Bordes, Constance, Børte, Sigrid, Cain, Anael, Ridker, Paul M., Cho, Kelly, Chen, Zhengming, Cruchaga, Carlos, Cole, John W., de Jager, Phil L., de Cid, Rafael, Endres, Matthias, Ferreira, Leslie E., Geerlings, Mirjam I., Gasca, Natalie C., Gudnason, Vilmundur, Hata, Jun, He, Jing, Heath, Alicia K., Ho, Yuk-Lam, Havulinna, Aki S., Hopewell, Jemma C., Hyacinth, Hyacinth I., Inouye, Michael, Jacob, Mina A., Jeon, Christina E., Jern, Christina, Kamouchi, Masahiro, Keene, Keith L., Kitazono, Takanari, Kittner, Steven J., Konuma, Takahiro, Kumar, Amit, Lacaze, Paul, Launer, Lenore J., Lee, Keon-Joo, Lepik, Kaido, Li, Jiang, Li, Liming, Manichaikul, Ani, Markus, Hugh S., Marston, Nicholas A., Meitinger, Thomas, Mitchell, Braxton D., Montellano, Felipe A., Morisaki, Takayuki, Mosley, Thomas H., Nalls, Mike A., Nordestgaard, Børge G., O’Donnell, Martin J., Okada, Yukinori, Onland-Moret, N. Charlotte, Ovbiagele, Bruce, Peters, Annette, Psaty, Bruce M., Rich, Stephen S., Rosand, Jonathan, Sabatine, Marc S., Sacco, Ralph L., Saleheen, Danish, Sandset, Else Charlotte, Salomaa, Veikko, Sargurupremraj, Muralidharan, Sasaki, Makoto, Satizabal, Claudia L., Schmidt, Carsten O., Shimizu, Atsushi, Smith, Nicholas L., Sloane, Kelly L., Sutoh, Yoichi, Sun, Yan V., Tanno, Kozo, Tiedt, Steffen, Tatlisumak, Turgut, Torres-Aguila, Nuria P., Tiwari, Hemant K., Trégouët, David-Alexandre, Trompet, Stella, Tuladhar, Anil Man, Tybjærg-Hansen, Anne, van Vugt, Marion, Vibo, Riina, Verma, Shefali S., Wiggins, Kerri L., Wennberg, Patrik, Woo, Daniel, Wilson, Peter W. F., Xu, Huichun, Yang, Qiong, Yoon, Kyungheon, Millwood, Iona Y., Gieger, Christian, Ninomiya, Toshiharu, Grabe, Hans J., Jukema, J. Wouter, Rissanen, Ina L., Strbian, Daniel, Kim, Young Jin, Chen, Pei-Hsin, Mayerhofer, Ernst, Howson, Joanna M. M., Irvin, Marguerite R., Adams, Hieab, Wassertheil-Smoller, Sylvia, Christensen, Kaare, Ikram, Mohammad A., Rundek, Tatjana, Worrall, Bradford B., Lathrop, G. Mark, Riaz, Moeen, Simonsick, Eleanor M., Kõrv, Janika, França, Paulo H. C., Zand, Ramin, Prasad, Kameshwar, Frikke-Schmidt, Ruth, de Leeuw, Frank-Erik, Liman, Thomas, Haeusler, Karl Georg, Ruigrok, Ynte M., Heuschmann, Peter Ulrich, Longstreth, W. T., Jung, Keum Ji, Bastarache, Lisa, Paré, Guillaume, Damrauer, Scott M., Chasman, Daniel I., Rotter, Jerome I., Anderson, Christopher D., Zwart, John-Anker, Niiranen, Teemu J., Fornage, Myriam, Liaw, Yung-Po, Seshadri, Sudha, Fernández-Cadenas, Israel, Walters, Robin G., Ruff, Christian T., Owolabi, Mayowa O., Huffman, Jennifer E., Milani, Lili, Kamatani, Yoichiro, Dichgans, Martin, and Debette, Stephanie

Published
2022
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8. The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4

Author

Parodi, Livia, Barbier, Mathieu, Jacoupy, Maxime, Pujol, Claire, Lejeune, François-Xavier, Lallemant-Dudek, Pauline, Esteves, Typhaine, Pennings, Maartje, Kamsteeg, Erik-Jan, Guillaud-Bataille, Marine, Banneau, Guillaume, Coarelli, Giulia, Oumoussa, Badreddine Mohand, Fraidakis, Matthew J., Stevanin, Giovanni, Depienne, Christel, van de Warrenburg, Bart, Brice, Alexis, and Durr, Alexandra

Published
2022
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10. A genome-wide association study of outcome from traumatic brain injury

Author

Åkerlund, Cecilia, Amrein, Krisztina, Andelic, Nada, Andreassen, Lasse, Anke, Audny, Antoni, Anna, Audibert, Gérard, Azouvi, Philippe, Azzolini, Maria Luisa, Bartels, Ronald, Barzó, Pál, Beauvais, Romuald, Beer, Ronny, Bellander, Bo-Michael, Belli, Antonio, Benali, Habib, Berardino, Maurizio, Beretta, Luigi, Blaabjerg, Morten, Bragge, Peter, Brazinova, Alexandra, Brinck, Vibeke, Brooker, Joanne, Brorsson, Camilla, Buki, Andras, Bullinger, Monika, Cabeleira, Manuel, Caccioppola, Alessio, Calappi, Emiliana, Calvi, Maria Rosa, Cameron, Peter, Lozano, Guillermo Carbayo, Carbonara, Marco, Cavallo, Simona, Chevallard, Giorgio, Chieregato, Arturo, Citerio, Giuseppe, Clusmann, Hans, Coburn, Mark, Coles, Jonathan P., Cooper, Jamie D., Correia, Marta, Čović, Amra, Curry, Nicola, Czeiter, Endre, Czosnyka, Marek, DahyotFizelier, Claire, Dark, Paul, Dawes, Helen, De Keyser, Véronique, Degos, Vincent, Corte, Francesco Della, Boogert, Hugo den, Depreitere, Bart, Đilvesi, Đula, Dixit, Abhishek, Donoghue, Emma, Dreier, Jens, Dulière, GuyLoup, Ercole, Ari, Esser, Patrick, Ezer, Erzsébet, Fabricius, Martin, Feigin, Valery L., Foks, Kelly, Frisvold, Shirin, Furmanov, Alex, Gagliardo, Pablo, Galanaud, Damien, Gantner, Dashiell, Gao, Guoyi, George, Pradeep, Ghuysen, Alexandre, Giga, Lelde, Glocker, Ben, Golubovic, Jagoš, Gomez, Pedro A., Gratz, Johannes, Gravesteijn, Benjamin, Grossi, Francesca, Gruen, Russell L., Gupta, Deepak, Haagsma, Juanita A., Haitsma, Iain, Helbok, Raimund, Helseth, Eirik, Horton, Lindsay, Huijben, Jilske, Hutchinson, Peter J.A., Jacobs, Bram, Jankowski, Stefan, Jarrett, Mike, Jiang, Jiyao, Johnson, Faye, Jones, Kelly, Karan, Mladen, Kolias, Angelos G., Kompanje, Erwin, Kondziella, Daniel, Kornaropoulos, Evgenios, Koskinen, LarsOwe, Kovács, Noémi, Kowark, Ana, Lagares, Alfonso, Lanyon, Linda, Laureys, Steven, Lecky, Fiona, Ledoux, Didier, Lefering, Rolf, Legrand, Valerie, Lejeune, Aurelie, Levi, Leon, Lightfoot, Roger, Lingsma, Hester, Maas, Andrew I.R., CastañoLeón, Ana M., Maegele, Marc, Majdan, Marek, Manara, Alex, Martino, Costanza, Maréchal, Hugues, Mattern, Julia, McMahon, Catherine, Melegh, Béla, Menon, David K., Menovsky, Tomas, Mikolic, Ana, Misset, Benoit, Muraleedharan, Visakh, Murray, Lynnette, Negru, Ancuta, Nelson, David, Newcombe, Virginia F.J., Nieboer, Daan, Nyirádi, József, Olubukola, Otesile, Oresic, Matej, Ortolano, Fabrizio, Palotie, Aarno, Parizel, Paul M., Payen, JeanFrançois, Perera, Natascha, Perlbarg, Vincent, Persona, Paolo, Peul, Wilco, Piippo-Karjalainen, Anna, Pirinen, Matti, Pisica, Dana, Ples, Horia, Polinder, Suzanne, Pomposo, Inigo, Posti, Jussi P., Puybasset, Louis, Radoi, Andreea, Ragauskas, Arminas, Raj, Rahul, Rambadagalla, Malinka, Helmrich, Isabel Retel, Rhodes, Jonathan, Richardson, Sylvia, Richter, Sophie, Ripatti, Samuli, Rocka, Saulius, Roe, Cecilie, Roise, Olav, Rosenfeld, Jeffrey V., Rosenlund, Christina, Rosenthal, Guy, Rossaint, Rolf, Rossi, Sandra, Rueckert, Daniel, Rusnák, Martin, Sahuquillo, Juan, Sakowitz, Oliver, SanchezPorras, Renan, Sandor, Janos, Schäfer, Nadine, Schmidt, Silke, Schoechl, Herbert, Schoonman, Guus, Schou, Rico Frederik, Schwendenwein, Elisabeth, Sewalt, Charlie, Skandsen, Toril, Smielewski, Peter, Sorinola, Abayomi, Stamatakis, Emmanuel, Stanworth, Simon, Stevens, Robert, Stewart, William, Steyerberg, Ewout W., Stocchetti, Nino, Sundström, Nina, Takala, Riikka, Tamás, Viktória, Tamosuitis, Tomas, Taylor, Mark Steven, Ao, Braden Te, Tenovuo, Olli, Theadom, Alice, Thomas, Matt, Tibboel, Dick, Timmers, Marjolein, Tolias, Christos, Trapani, Tony, Tudora, Cristina Maria, Unterberg, Andreas, Vajkoczy, Peter, Vallance, Shirley, Valeinis, Egils, Vámos, Zoltán, van der Jagt, Mathieu, van der Steen, Gregory, van der Naalt, Joukje, van Dijck, Jeroen T.J.M., van Essen, Thomas A., Van Hecke, Wim, van Heugten, Caroline, Van Praag, Dominique, van Veen, Ernest, Vyvere, Thijs Vande, van Wijk, Roel P.J., Vargiolu, Alessia, Vega, Emmanuel, Velt, Kimberley, Verheyden, Jan, Vespa, Paul M., Vik, Anne, Vilcinis, Rimantas, Volovici, Victor, von Steinbüchel, Nicole, Voormolen, Daphne, Vulekovic, Petar, Wang, Kevin K.W., Wiegers, Eveline, Williams, Guy, Wilson, Lindsay, Winzeck, Stefan, Wolf, Stefan, Yang, Zhihui, Ylén, Peter, Younsi, Alexander, Zeiler, Frederick A., Zelinkova, Veronika, Ziverte, Agate, Zoerle, Tommaso, Izzy, Saef, Radmanesh, Farid, Frantzén, Janek, Katila, Ari, Maanpää, Henna-Rikka, Tallus, Jussi, Adeoye, Opeolu, Badjatia, Neeraj, Boase, Kim, Barber, Jason, Bodien, Yelena, Chesnut, Randall, Corrigan, John D., Crawford, Karen, Diaz-Arrastia, Ramon, Dikmen, Sureyya, Duhaime, Ann-Christine, Ellenbogen, Richard, Feeser, Ramana, Ferguson, Adam R., Foreman, Brandon, Gardner, Raquel, Gaudette, Etienne, Giacino, Joseph, Goldman, Dana, Gonzalez, Luis, Gopinath, Shankar, Gullapalli, Rao, Hemphill, Claude, Hotz, Gillian, Jain, Sonia, Keene, Dirk, Korley, Frederick K., Kramer, Joel, Kreitzer, Natalie, Levin, Harvey, Lindsell, Chris, Machamer, Joan, Madden, Christopher, Manley, Geoffrey T., Martin, Alastair, McAllister, Thomas, McCrea, Michael, Merchant, Randall, Mukherjee, Pratik, Nelson, Lindsay, Ngwenya, Laura B, Noel, Florence, Nolan, Amber, Okonkwo, David, Palacios, Eva, Perl, Daniel, Puccio, Ava, Rabinowitz, Miri, Robertson, Claudia, Rosand, Jonathan, Sander, Angelle, Satris, Gabriella, Schnyer, David, Seabury, Seth, Sherer, Mark, Stein, Murray, Taylor, Sabrina, Temkin, Nancy, Toga, Arthur, Valadka, Alex, Vassar, Mary, Yue, John K., Yuh, Esther, Zafonte, Ross, Kals, Mart, Kunzmann, Kevin, Parodi, Livia, Anderson, Christopher D., Puccio, Ava M., Okonkwo, David O., Stein, Murray B., and Manley, Geoff T.

Published
2022
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13. The predictive validity of a Brain Care Score for late-life depression and a composite outcome of dementia, stroke, and late-life depression: data from the UK Biobank cohort.

Author

Singh, Sanjula D., Rivier, Cyprien A., Papier, Keren, Chemali, Zeina, Gutierrez-Martinez, Leidys, Parodi, Livia, Mayerhofer, Ernst, Senff, Jasper, Clocchiatti-Tuozzo, Santiago, Nunley, Courtney, Newhouse, Amy, Ouyang, An, Westover, M. Brandon, Tanzi, Rudolph E., Lazar, Ronald M., Pikula, Aleksandra, Ibrahim, Sarah, Brouwers, H. Bart, Howard, Virginia J., and Howard, George

Subjects
DISEASE risk factors, PROPORTIONAL hazards models, PREDICTIVE validity, DEMENTIA, RISK sharing
Abstract

Introduction: The 21-point Brain Care Score (BCS) is a novel tool designed to motivate individuals and care providers to take action to reduce the risk of stroke and dementia by encouraging lifestyle changes. Given that late-life depression is increasingly recognized to share risk factors with stroke and dementia, and is an important clinical endpoint for brain health, we tested the hypothesis that a higher BCS is associated with a reduced incidence of future depression. Additionally, we examined its association with a brain health composite outcome comprising stroke, dementia, and late-life depression. Methods: The BCS was derived from the United Kingdom Biobank baseline evaluation in participants with complete data on BCS items. Associations of BCS with the risk of subsequent incident late-life depression and the composite brain health outcome were estimated using multivariable Cox proportional hazard models. These models were adjusted for age at baseline and sex assigned at birth. Results: A total of 363,323 participants were included in this analysis, with a median BCS at baseline of 12 (IQR: 11-14). There were 6,628 incident cases of late-life depression during a median follow-up period of 13 years. Each five-point increase in baseline BCS was associated with a 33% lower risk of incident late-life depression (95% CI: 29%-36%) and a 27% lower risk of the incident composite outcome (95% CI: 24%-30%). Discussion: These data further demonstrate the shared risk factors across depression, dementia, and stroke. The findings suggest that a higher BCS, indicative of healthier lifestyle choices, is significantly associated with a lower incidence of late-life depression and a composite brain health outcome. Additional validation of the BCS is warranted to assess the weighting of its components, its motivational aspects, and its acceptability and adaptability in routine clinical care worldwide. [ABSTRACT FROM AUTHOR]

Published
2024
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14. The predictive validity of a Brain Care Score for dementia and stroke: data from the UK Biobank cohort.

Author

Singh, Sanjula D., Oreskovic, Tin, Carr, Sinclair, Papier, Keren, Conroy, Megan, Senff, Jasper R., Chemali, Zeina, Gutierrez-Martinez, Leidys, Parodi, Livia, Mayerhofer, Ernst, Marini, Sandro, Nunley, Courtney, Newhouse, Amy, Ouyang, An, Brouwers, H. Bart, Westover, Brandon, Rivier, Cyprien, Falcone, Guido, Howard, Virginia, and Howard, George

Subjects
DISEASE risk factors, STROKE, PREDICTIVE validity, AGE groups, DEMENTIA
Abstract

Introduction: The 21-point Brain Care Score (BCS) was developed through a modified Delphi process in partnership with practitioners and patients to promote behavior changes and lifestyle choices in order to sustainably reduce the risk of dementia and stroke. We aimed to assess the associations of the BCS with risk of incident dementia and stroke. Methods: The BCS was derived from the United Kingdom Biobank (UKB) baseline evaluation for participants aged 40–69 years, recruited between 2006–2010. Associations of BCS and risk of subsequent incident dementia and stroke were estimated using Cox proportional hazard regressions, adjusted for sex assigned at birth and stratified by age groups at baseline. Results: The BCS (median: 12; IQR:11–14) was derived for 398,990 UKB participants (mean age: 57; females: 54%). There were 5,354 incident cases of dementia and 7,259 incident cases of stroke recorded during a median follow-up of 12.5 years. A five-point higher BCS at baseline was associated with a 59% (95%CI: 40-72%) lower risk of dementia among participants aged <50. Among those aged 50–59, the figure was 32% (95%CI: 20-42%) and 8% (95%CI: 2-14%) for those aged >59 years. A five-point higher BCS was associated with a 48% (95%CI: 39-56%) lower risk of stroke among participants aged <50, 52% (95%CI, 47-56%) among those aged 50–59, and 33% (95%CI, 29-37%) among those aged >59. Discussion: The BCS has clinically relevant and statistically significant associations with risk of dementia and stroke in approximately 0.4 million UK people. Future research includes investigating the feasibility, adaptability and implementation of the BCS for patients and providers worldwide. [ABSTRACT FROM AUTHOR]

Published
2024
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15. Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment

Author

Roux, Thomas, Barbier, Mathieu, Papin, Mélanie, Davoine, Claire-Sophie, Sayah, Sabrina, Coarelli, Giulia, Charles, Perrine, Marelli, Cecilia, Parodi, Livia, Tranchant, Christine, Goizet, Cyril, Klebe, Stephan, Lohmann, Ebba, Van Maldergem, Lionel, van Broeckhoven, Christine, Coutelier, Marie, Tesson, Christelle, Stevanin, Giovanni, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Darios, Frédéric, Forlani, Sylvie, Site, Pitié-Salpêtrière, Banneau, Guillaume, Cazeneuve, Cécile, Fontaine, Bertrand, Azulay, Jean-Philippe, Boesfplug-Tanguy, Odile, Hannequin, Didier, Hazan, Jamilé, Burgo, Andrea, Verny, Christophe, Koenig, Michel, Labauge, Pierre, N’guyen, Karine, Rodriguez, Diana, Belarbi, Soraya, Hamri, Abdelmadjid, Tazir, Meriem, Boesch, Sylvia, Pandolfo, Massimo, Laura, Jardim, Guergueltcheva, Velina, Tournev, Ivalo, Pedraza Linarès, Olga Lucia, Nielsen, Jørgen E., Svenstrup, Kirsten, Zaki, Maha, Bauer, Peter, Schöls, Lüdger, Schüle, Rebecca, Lossos, Alexander, Bassi, Maria-Teresa, Basso, Manuela, Bertini, Enrico, Brusco, Alfredo, Casali, Carlo, Casari, Giorgio, Criscuolo, Chiara, Filla, Alessandro, Orsi, Laura, Santorelli, Filippo M., Valente, Enza Maria, Vavla, Marinela, Vazza, Giovanni, Megarbane, André, Benomar, Ali, Kremer, Berry, Van Roon-Mom, Willeke, Roxburgh, Richard, Erichsen, Anne Kjersti, Tallaksen, Chantal, Alonso, Isabel, Coutinho, Paula, Loureiro, José Léal, Sequeiros, Jorge, Salih, Mustapha, Kostic, Vladimir S., Rouco Axpe, Idoia, Elsayed, Liena, Paucar, Martin Arce, Roumani, Samir, Bing-Wen, Soong, Reid, Evan, Suran, Nethisinghe, Warner, Thomas, and Wood, Nicholas

Published
2020
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17. A Brain Care Score for Dementia and Stroke: Data from the UK Biobank Cohort (P10-15.002)

Author

Singh, Sanjula, primary, Oreskovic, Tin, additional, Carr, Sinclair, additional, Papier, Keren, additional, Conroy, Megan, additional, Senff, Jasper, additional, Chemali, Zeina, additional, Gutierrez-Martinez, Leidys, additional, Parodi, Livia, additional, Mayerhofer, Ernst, additional, Marini, Sandro, additional, Nunley, Courtney, additional, Newhouse, Amy, additional, Ouyang, An, additional, Brouwers, Bart, additional, Westover, Brandon, additional, Rivier, Cyprien, additional, Falcone, Guido, additional, Howard, Virgina, additional, Howard, George, additional, Pikula, Aleksandra, additional, Ibrahim, Sarah, additional, Sheth, Kevin, additional, Yechoor, Nirupama, additional, Lazar, Ronald, additional, Anderson, Christopher, additional, Fricchione, Gregory, additional, Littlejohns, Thomas, additional, and Rosand, Jonathan, additional

Published
2024
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18. A Brain Care Score to Mitigate the Genetic Risk of Adverse Brain Health Outcomes (S16.010)

Author

Kimball, Tamara, primary, Mayerhofer, Ernst, additional, Senff, Jasper, additional, Marini, Sandro, additional, Rivier, Cyprien A., additional, Kourkoulis, Christina, additional, Oreskovic, Tin, additional, Carr, Sinclair, additional, Falcone, Guido, additional, Yechoor, Nirupama, additional, Rosand, Jonathan, additional, Singh, Sanjula, additional, Parodi, Livia, additional, and Anderson, Christopher, additional

Published
2024
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19. A Brain Care Score for Risk of Late-life Depression: Data from the UK Biobank Cohort (P10-15.001)

Author

Singh, Sanjula, primary, Rivier, Cyprien, additional, Oreskovic, Tin, additional, Carr, Sinclair, additional, Papier, Keren, additional, Chemali, Zeina, additional, Gutierrez-Martinez, Leidys, additional, Mallick, Akashleena, additional, Parodi, Livia, additional, Mayerhofer, Ernst, additional, Senff, Jasper, additional, Kourkoulis, Christina, additional, Marini, Sandro, additional, Clocchiatti-Tuozzo, Santiago, additional, Nunley, Courtney, additional, Newhouse, Amy, additional, Ouyang, An, additional, Westover, Brandon, additional, Lazar, Ronald, additional, Pikula, Aleksandra, additional, Ibrahim, Sarah, additional, Brouwers, Bart, additional, Howard, Virgina, additional, Howard, George, additional, Yechoor, Nirupama, additional, van Duijn, Cornelia, additional, Littlejohns, Thomas, additional, Sheth, Kevin, additional, Rosand, Jonathan, additional, Gricchione, Gregory, additional, Anderson, Christopher, additional, and Falcone, Guido, additional

Published
2024
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20. Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations

Author

Méreaux, Jean-Loup, Firanescu, Cristina, Coarelli, Giulia, Kvarnung, Malin, Rodrigues, Rita, Pegoraro, Elena, Tazir, Meriem, Taithe, Frédéric, Valter, Rémi, Huin, Vincent, Lidström, Kristina, Banneau, Guillaume, Morais, Sara, Parodi, Livia, Coutelier, Marie, Papin, Mélanie, Svenningsson, Per, Azulay, Jean-Philippe, Alonso, Isabel, Nilsson, Daniel, Brice, Alexis, Le Guern, Eric, Press, Rayomand, Vazza, Giovanni, Loureiro, José Leal, Goizet, Cyril, Durr, Alexandra, Paucar, Martin, and Stevanin, Giovanni

Published
2021
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22. Publisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries

Author

Mishra, Aniket, Malik, Rainer, Hachiya, Tsuyoshi, Jürgenson, Tuuli, Namba, Shinichi, Posner, Daniel C., Kamanu, Frederick K., Koido, Masaru, Le Grand, Quentin, Shi, Mingyang, He, Yunye, Georgakis, Marios K., Caro, Ilana, Krebs, Kristi, Liaw, Yi-Ching, Vaura, Felix C., Lin, Kuang, Winsvold, Bendik Slagsvold, Srinivasasainagendra, Vinodh, Parodi, Livia, Bae, Hee-Joon, Chauhan, Ganesh, Chong, Michael R., Tomppo, Liisa, Akinyemi, Rufus, Roshchupkin, Gennady V., Habib, Naomi, Jee, Yon Ho, Thomassen, Jesper Qvist, Abedi, Vida, Cárcel-Márquez, Jara, Nygaard, Marianne, Leonard, Hampton L., Yang, Chaojie, Yonova-Doing, Ekaterina, Knol, Maria J., Lewis, Adam J., Judy, Renae L., Ago, Tetsuro, Amouyel, Philippe, Armstrong, Nicole D., Bakker, Mark K., Bartz, Traci M., Bennett, David A., Bis, Joshua C., Bordes, Constance, Børte, Sigrid, Cain, Anael, Ridker, Paul M., Cho, Kelly, Chen, Zhengming, Cruchaga, Carlos, Cole, John W., de Jager, Phil L., de Cid, Rafael, Endres, Matthias, Ferreira, Leslie E., Geerlings, Mirjam I., Gasca, Natalie C., Gudnason, Vilmundur, Hata, Jun, He, Jing, Heath, Alicia K., Ho, Yuk-Lam, Havulinna, Aki S., Hopewell, Jemma C., Hyacinth, Hyacinth I., Inouye, Michael, Jacob, Mina A., Jeon, Christina E., Jern, Christina, Kamouchi, Masahiro, Keene, Keith L., Kitazono, Takanari, Kittner, Steven J., Konuma, Takahiro, Kumar, Amit, Lacaze, Paul, Launer, Lenore J., Lee, Keon-Joo, Lepik, Kaido, Li, Jiang, Li, Liming, Manichaikul, Ani, Markus, Hugh S., Marston, Nicholas A., Meitinger, Thomas, Mitchell, Braxton D., Montellano, Felipe A., Morisaki, Takayuki, Mosley, Thomas H., Nalls, Mike A., Nordestgaard, Børge G., O’Donnell, Martin J., Okada, Yukinori, Onland-Moret, N. Charlotte, Ovbiagele, Bruce, Peters, Annette, Psaty, Bruce M., Rich, Stephen S., Rosand, Jonathan, Sabatine, Marc S., Sacco, Ralph L., Saleheen, Danish, Sandset, Else Charlotte, Salomaa, Veikko, Sargurupremraj, Muralidharan, Sasaki, Makoto, Satizabal, Claudia L., Schmidt, Carsten O., Shimizu, Atsushi, Smith, Nicholas L., Sloane, Kelly L., Sutoh, Yoichi, Sun, Yan V., Tanno, Kozo, Tiedt, Steffen, Tatlisumak, Turgut, Torres-Aguila, Nuria P., Tiwari, Hemant K., Trégouët, David-Alexandre, Trompet, Stella, Tuladhar, Anil Man, Tybjærg-Hansen, Anne, van Vugt, Marion, Vibo, Riina, Verma, Shefali S., Wiggins, Kerri L., Wennberg, Patrik, Woo, Daniel, Wilson, Peter W. F., Xu, Huichun, Yang, Qiong, Yoon, Kyungheon, Millwood, Iona Y., Gieger, Christian, Ninomiya, Toshiharu, Grabe, Hans J., Jukema, J. Wouter, Rissanen, Ina L., Strbian, Daniel, Kim, Young Jin, Chen, Pei-Hsin, Mayerhofer, Ernst, Howson, Joanna M. M., Irvin, Marguerite R., Adams, Hieab, Wassertheil-Smoller, Sylvia, Christensen, Kaare, Ikram, Mohammad A., Rundek, Tatjana, Worrall, Bradford B., Lathrop, G. Mark, Riaz, Moeen, Simonsick, Eleanor M., Kõrv, Janika, França, Paulo H. C., Zand, Ramin, Prasad, Kameshwar, Frikke-Schmidt, Ruth, de Leeuw, Frank-Erik, Liman, Thomas, Haeusler, Karl Georg, Ruigrok, Ynte M., Heuschmann, Peter Ulrich, Longstreth, W. T., Jung, Keum Ji, Bastarache, Lisa, Paré, Guillaume, Damrauer, Scott M., Chasman, Daniel I., Rotter, Jerome I., Anderson, Christopher D., Zwart, John-Anker, Niiranen, Teemu J., Fornage, Myriam, Liaw, Yung-Po, Seshadri, Sudha, Fernández-Cadenas, Israel, Walters, Robin G., Ruff, Christian T., Owolabi, Mayowa O., Huffman, Jennifer E., Milani, Lili, Kamatani, Yoichiro, Dichgans, Martin, and Debette, Stephanie

Published
2022
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23. The predictive validity of a Brain Care Score for late-life depression and a composite outcome of dementia, stroke, and late-life depression: data from the UK Biobank cohort

Author

Projectafdeling CVZ, Singh, Sanjula D., Rivier, Cyprien A., Papier, Keren, Chemali, Zeina, Gutierrez-Martinez, Leidys, Parodi, Livia, Mayerhofer, Ernst, Senff, Jasper, Clocchiatti-Tuozzo, Santiago, Nunley, Courtney, Newhouse, Amy, Ouyang, An, Westover, M. Brandon, Tanzi, Rudolph E., Lazar, Ronald M., Pikula, Aleksandra, Ibrahim, Sarah, Brouwers, H. Bart, Howard, Virginia J., Howard, George, Yechoor, Nirupama, Littlejohns, Thomas, Sheth, Kevin N., Rosand, Jonathan, Fricchione, Gregory, Anderson, Christopher D., Falcone, Guido J., Projectafdeling CVZ, Singh, Sanjula D., Rivier, Cyprien A., Papier, Keren, Chemali, Zeina, Gutierrez-Martinez, Leidys, Parodi, Livia, Mayerhofer, Ernst, Senff, Jasper, Clocchiatti-Tuozzo, Santiago, Nunley, Courtney, Newhouse, Amy, Ouyang, An, Westover, M. Brandon, Tanzi, Rudolph E., Lazar, Ronald M., Pikula, Aleksandra, Ibrahim, Sarah, Brouwers, H. Bart, Howard, Virginia J., Howard, George, Yechoor, Nirupama, Littlejohns, Thomas, Sheth, Kevin N., Rosand, Jonathan, Fricchione, Gregory, Anderson, Christopher D., and Falcone, Guido J.

Published
2024

24. Abstract WMP19: A Brain Care Score for Risk of Late-Life Depression: Data From the UK Biobank Cohort

Author

Singh, Sanjula D, primary, Rivier, Cyprien, additional, Oreskovic, Tin, additional, Carr, Sinclair, additional, Papier, Keren, additional, Chemali, Zeina, additional, Guiterrez-Martinez, Leidys, additional, Mallick, Akashleena, additional, Parodi, Livia, additional, Mayerhofer, Ernst, additional, Senff, Jasper, additional, Kourkoulis, Christina, additional, Marini, Sandro, additional, Clocchiatti-Tuozzo, Santiago, additional, Nunley, Courtney, additional, Newhouse, Amy, additional, Ouyang, An, additional, Westover, Michael B, additional, Tanzi, Rudolph, additional, Lazar, Ronald M, additional, Pikula, Aleksandra, additional, Ibrahim, Sarah, additional, Brouwers, H, additional, Howard, Virginia J, additional, Howard, George, additional, Yechoor, Nirupama, additional, van Duijn, Cornelia, additional, Littlejohns, Thomas, additional, Sheth, Kevin N, additional, Rosand, Jonathan, additional, Fricchione, Gregory, additional, Anderson, Christopher D, additional, and Falcone, Guido J, additional

Published
2024
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25. Abstract 37: The Brain Care Score and Neuroimaging Markers in Asymptomatic Individuals in the UK Biobank

Author

Rivier, Cyprien, primary, Singh, Sanjula D, additional, Senff, Jasper, additional, Marini, Sandro, additional, Oreskovic, Tin, additional, Carr, Sinclair, additional, Papier, Keren, additional, Conroy, Megan, additional, Chemali, Zeina, additional, Gutierrez, Leidys, additional, Mallick, Akashleena, additional, Parodi, Livia, additional, Mayerhofer, Ernst, additional, Kourkoulis, Christina, additional, Clocchiatti-Tuozzo, Santiago, additional, Nunley, Courtney, additional, Payabvash, Sam, additional, Newhouse, Amy, additional, Ouyang, An, additional, Lazar, Ronald M, additional, Westover, Michael B, additional, Pikula, Aleksandra, additional, Ibrahim, Sarah, additional, Brouwers, Bart, additional, Howard, Virginia J, additional, Howard, George, additional, Yechoor, Nirupama, additional, van Duijn, Cornelia, additional, Littlejohns, Thomas, additional, Tanzi, Rudolph, additional, Fricchione, Gregory, additional, Sheth, Kevin N, additional, Rosand, Jonathan, additional, Anderson, Christopher D, additional, and Falcone, Guido J, additional

Published
2024
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26. Abstract WMP18: A Brain Care Score for Dementia and Stroke: Data From the UK Biobank Cohort

Author

Singh, Sanjula D, primary, Oreskovic, Tin, additional, Carr, Sinclair, additional, Papier, Keren, additional, Conroy, Megan, additional, Senff, Jasper, additional, Chemali, Zeina, additional, Gutierrez-Martinez, Leidys, additional, Parodi, Livia, additional, Mayerhofer, Ernst, additional, Marini, Sandro, additional, Nunley, Courtney, additional, Kourkoulis, Christina, additional, Newhouse, Amy, additional, Ouyang, An, additional, Brouwers, H B, additional, Westover, Brandon, additional, Rivier, Cyprien, additional, Falcone, Guido J, additional, Howard, Virginia J, additional, Howard, George, additional, Sheth, Kevin N, additional, Yechoor, Nirupama, additional, Lazar, Ronald M, additional, Anderson, Christopher D, additional, Tanzi, Rudolph, additional, Fricchione, Gregory, additional, Littlejohns, Thomas, additional, and Rosand, Jonathan, additional

Published
2024
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28. Deep Resequencing of the 1q22 Locus in Non‐Lobar Intracerebral Hemorrhage

Author

Parodi, Livia, primary, Comeau, Mary E., additional, Georgakis, Marios K., additional, Mayerhofer, Ernst, additional, Chung, Jaeyoon, additional, Falcone, Guido J., additional, Malik, Rainer, additional, Demel, Stacie L., additional, Worrall, Bradford B., additional, Koch, Sebastian, additional, Testai, Fernando D., additional, Kittner, Steven J., additional, McCauley, Jacob L., additional, Hall, Christiana E., additional, Mayson, Douglas J., additional, Elkind, Mitchell S.V., additional, James, Michael L., additional, Woo, Daniel, additional, Rosand, Jonathan, additional, Langefeld, Carl D., additional, and Anderson, Christopher D., additional

Published
2023
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33. Genetic and non-genetic components of family history of stroke and heart disease: a population-based study among adopted and non-adopted individuals

Author

Mayerhofer, Ernst, Parodi, Livia, Narasimhalu, Kaavya, Harloff, Andreas, Georgakis, Marios K, Rosand, Jonathan, and Anderson, Christopher D

Subjects
Article
Abstract

BACKGROUND: It is increasingly clear that genetic and non-genetic factors account for the association of family history with disease risk in offspring. We sought to distinguish the genetic and non-genetic contributions of family history of stroke and heart disease on incident events by examining adopted and non-adopted individuals. METHODS: We examined associations between family history of stroke and heart disease with incident stroke and myocardial infarction (MI) in 495,640 participants of the UK Biobank (mean age 56.5 years, 55% female) stratified by early childhood adoption status into adoptees (n=5,747) and non-adoptees (n=489,893). We estimated hazard ratios (HRs) per affected nuclear family member, and for polygenic risk scores (PRS) for stroke and MI in Cox models adjusted for baseline age and sex. RESULTS: 12,518 strokes and 23,923 MIs occurred over a 13-year follow-up. In non-adoptees, family history of stroke and heart disease were associated with increased stroke and MI risk, with the strongest association of family history of stroke for incident stroke (HR 1.16 [1.12, 1.19]) and family history of heart disease for incident MI (HR 1.48 [1.45, 1.50]). In adoptees, family history of stroke associated with incident stroke (HR 1.41 [1.06, 1.86]), but family history of heart disease did not associate with incident MI (p>0.5). PRS showed strong disease-specific associations in adoptees and non-adoptees. In non-adoptees, the stroke PRS mediated 6% risk between family history of stroke and incident stroke, and the MI PRS mediated 13% risk between family history of heart disease and MI. CONCLUSIONS: Family history of stroke and heart disease increase risk for their respective conditions. Family history of stroke contains a substantial proportion of potentially modifiable non-genetic risk, indicating a need for further research to elucidate these elements for novel prevention strategies, whereas family history of heart disease represents predominantly genetic risk.

Published
2023

34. Deep Resequencing of the 1q22 Locus in Non‐Lobar Intracerebral Hemorrhage.

Author

Parodi, Livia, Comeau, Mary E., Georgakis, Marios K., Mayerhofer, Ernst, Chung, Jaeyoon, Falcone, Guido J., Malik, Rainer, Demel, Stacie L., Worrall, Bradford B., Koch, Sebastian, Testai, Fernando D., Kittner, Steven J., McCauley, Jacob L., Hall, Christiana E., Mayson, Douglas J., Elkind, Mitchell S.V., James, Michael L., Woo, Daniel, Rosand, Jonathan, and Langefeld, Carl D.

Subjects
*LACUNAR stroke, *CEREBRAL small vessel diseases, *CEREBRAL hemorrhage, *BASE pairs, *GENOME-wide association studies, *LOCUS (Genetics)
Abstract

Objective: Genome‐wide association studies have identified 1q22 as a susceptibility locus for cerebral small vessel diseases, including non‐lobar intracerebral hemorrhage (ICH) and lacunar stroke. In the present study, we performed targeted high‐depth sequencing of 1q22 in ICH cases and controls to further characterize this locus and prioritize potential causal mechanisms, which remain unknown. Methods: A total of 95,000 base pairs spanning 1q22, including SEMA4A, SLC25A44, and PMF1/PMF1‐BGLAP were sequenced in 1,055 spontaneous ICH cases (534 lobar and 521 non‐lobar) and 1,078 controls. Firth regression and Rare Variant Influential Filtering Tool analysis were used to analyze common and rare variants, respectively. Chromatin interaction analyses were performed using Hi‐C, chromatin immunoprecipitation followed by sequencing, and chromatin interaction analysis with paired‐end tag databases. Multivariable Mendelian randomization assessed whether alterations in gene‐specific expression relative to regionally co‐expressed genes at 1q22 could be causally related to ICH risk. Results: Common and rare variant analyses prioritized variants in SEMA4A 5′‐UTR and PMF1 intronic regions, overlapping with active promoter and enhancer regions based on ENCODE annotation. Hi‐C data analysis determined that 1q22 is spatially organized in a single chromatin loop, and that the genes therein belong to the same topologically associating domain. Chromatin immunoprecipitation followed by sequencing and chromatin interaction analysis with paired‐end tag data analysis highlighted the presence of long‐range interactions between the SEMA4A‐promoter and PMF1‐enhancer regions prioritized by association testing. Multivariable Mendelian randomization analyses demonstrated that PMF1 overexpression could be causally related to non‐lobar ICH risk. Interpretation: Altered promoter–enhancer interactions leading to PMF1 overexpression, potentially dysregulating polyamine catabolism, could explain demonstrated associations with non‐lobar ICH risk at 1q22, offering a potential new target for prevention of ICH and cerebral small vessel disease. ANN NEUROL 2024;95:325–337 [ABSTRACT FROM AUTHOR]

Published
2024
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35. Genetic variation supports a causal role for valproate in prevention of ischemic stroke.

Author

Mayerhofer, Ernst, Parodi, Livia, Narasimhalu, Kaavya, Wolking, Stefan, Harloff, Andreas, Georgakis, Marios K, Rosand, Jonathan, and Anderson, Christopher D

Subjects
*ISCHEMIC stroke, *VALPROIC acid, *GENETIC variation, *PROPORTIONAL hazards models, *GENOME-wide association studies
Abstract

Background: Valproate is a candidate for ischemic stroke prevention due to its anti-atherosclerotic effects in vivo. Although valproate use is associated with decreased ischemic stroke risk in observational studies, confounding by indication precludes causal conclusions. Aims: We applied Mendelian randomization to determine whether genetic variants that influence seizure response among valproate users associate with ischemic stroke. Methods: We derived a genetic score for valproate response using genome-wide association data of seizure response after valproate intake from the Epilepsy Pharmacogenomics Consortium. We then tested this score among valproate users of the UK Biobank for association with incident and recurrent ischemic stroke using Cox proportional hazard models. As replication, we tested found associations in an independent cohort of valproate users of the Mass General Brigham Biobank. Results: Among 2150 valproate users (mean 56 years, 54% females), 82 ischemic strokes occurred over a mean 12 year follow-up. Higher valproate response genetic score was associated with higher serum valproate levels (+5.78 µg/ml per 1 standard deviation (SD), 95% confidence interval (CI) (3.45, 8.11)). After adjusting for age and sex, higher valproate response genetic score was associated with lower ischemic stroke risk (hazard ratio (HR) per 1 SD 0.73, 95% CI (0.58, 0.91)) with a halving of absolute risk in the highest compared to the lowest score tertile (4.8% vs 2.5%, p trend = 0.027). Among 194 valproate users with prevalent stroke at baseline, a higher valproate response genetic score was associated with lower recurrent ischemic stroke risk (HR per 1 SD 0.53, 95% CI (0.32, 0.86)) with reduced absolute risk in the highest compared to the lowest score tertile (3/51, 5.9% vs 13/71, 18.3%, p trend = 0.026). The valproate response genetic score was not associated with ischemic stroke among the 427,997 valproate non-users (p = 0.61), suggesting minimal pleiotropy. In 1241 valproate users of the Mass General Brigham Biobank with 99 ischemic stroke events over 6.5 years follow-up, we replicated our observed associations between the valproate response genetic score and ischemic stroke (HR per 1 SD 0.77, 95% CI (0.61, 0.97)). Conclusion: These results demonstrate that a genetically predicted favorable seizure response to valproate is associated with higher serum valproate levels and reduced ischemic stroke risk among valproate users, providing causal support for valproate effectiveness in ischemic stroke prevention. The strongest effect was found for recurrent ischemic stroke, suggesting potential dual-use benefits of valproate for post-stroke epilepsy. Clinical trials will be required in order to identify populations that may benefit most from valproate for stroke prevention. Data access statement: UK Biobank participant data are available after approval of a research proposal. The weights of the used genetic scores are available in the Supplemental Tables. [ABSTRACT FROM AUTHOR]

Published
2024
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36. The predictive validity of a Brain Care Score for dementia and stroke: data from the UK Biobank cohort.

Author

Singh, Sanjula D., Oreskovic, Tin, Carr, Sinclair, Papier, Keren, Conroy, Megan, Senff, Jasper R., Chemali, Zeina, Gutierrez-Martinez, Leidys, Parodi, Livia, Mayerhofer, Ernst, Marini, Sandro, Nunley, Courtney, Newhouse, Amy, Ouyang, An, Brouwers, H. Bart, Westover, Brandon, Rivier, Cyprien, Falcone, Guido, Howard, Virginia, and Howard, George

Subjects
STROKE, PREDICTIVE validity, DEMENTIA, DISEASE risk factors, AGE groups
Abstract

Introduction: The 21-point Brain Care Score (BCS) was developed through a modified Delphi process in partnership with practitioners and patients to promote behavior changes and lifestyle choices in order to sustainably reduce the risk of dementia and stroke. We aimed to assess the associations of the BCS with risk of incident dementia and stroke. Methods: The BCS was derived from the United Kingdom Biobank (UKB) baseline evaluation for participants aged 40–69  years, recruited between 2006–2010. Associations of BCS and risk of subsequent incident dementia and stroke were estimated using Cox proportional hazard regressions, adjusted for sex assigned at birth and stratified by age groups at baseline. Results: The BCS (median: 12; IQR:11–14) was derived for 398,990 UKB participants (mean age: 57; females: 54%). There were 5,354 incident cases of dementia and 7,259 incident cases of stroke recorded during a median follow-up of 12.5  years. A five-point higher BCS at baseline was associated with a 59% (95%CI: 40-72%) lower risk of dementia among participants aged <50. Among those aged 50– 59, the figure was 32% (95%CI: 20-42%) and 8% (95%CI: 2-14%) for those aged >59  years. A five-point higher BCS was associated with a 48% (95%CI: 39-56%) lower risk of stroke among participants aged <50, 52% (95%CI, 47-56%) among those aged 50–59, and 33% (95%CI, 29-37%) among those aged >59. Discussion: The BCS has clinically relevant and statistically significant associations with risk of dementia and stroke in approximately 0.4 million UK people. Future research includes investigating the feasibility, adaptability and implementation of the BCS for patients and providers worldwide. [ABSTRACT FROM AUTHOR]

Published
2023
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37. sj-docx-1-wso-10.1177_17474930231155816 – Supplemental material for Pleiotropy analysis between lobar intracerebral hemorrhage and CSF β-amyloid highlights new and established associations

Author

Marini, Sandro, Chung, Jaeyoon, Han, Xudong, Sun, Xinyu, Parodi, Livia, Farrer, Lindsay A, Rosand, Jonathan, Romero, Jose Rafael, and Anderson, Christopher D

Subjects
FOS: Clinical medicine, Cardiology, Medicine, 110904 Neurology and Neuromuscular Diseases
Abstract

Supplemental material, sj-docx-1-wso-10.1177_17474930231155816 for Pleiotropy analysis between lobar intracerebral hemorrhage and CSF β-amyloid highlights new and established associations by Sandro Marini, Jaeyoon Chung, Xudong Han, Xinyu Sun, Livia Parodi, Lindsay A Farrer, Jonathan Rosand, Jose Rafael Romero and Christopher D Anderson in International Journal of Stroke

Published
2023
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45. Corrigendum: The predictive validity of a Brain Care Score for late-life depression and a composite outcome of dementia, stroke, and late-life depression: data from the UK Biobank cohort.

Author

Singh, Sanjula D., Rivier, Cyprien A., Papier, Keren, Chemali, Zeina, Gutierrez-Martinez, Leidys, Parodi, Livia, Mayerhofer, Ernst, Senff, Jasper, Clocchiatti-Tuozzo, Santiago, Nunley, Courtney, Newhouse, Amy, Ouyang, An, Westover, M. Brandon, Tanzi, Rudolph E., Lazar, Ronald M., Pikula, Aleksandra, Ibrahim, Sarah, Brouwers, H. Bart, Howard, Virginia J., and Howard, George

Subjects
CORPORATE directors, PSYCHIATRIC research, DISEASE risk factors, ADVISORY boards, STOCK options
Abstract

The correction notice in the journal "Frontiers in Psychiatry" addresses an error in the Conflict of Interest statement for M. Brandon Westover. The corrected statement clarifies his affiliations and potential conflicts of interest. The authors emphasize that this correction does not impact the scientific conclusions of the original article. The article's publisher notes that the views expressed are solely those of the authors and do not necessarily reflect the views of their organizations or the publisher. [Extracted from the article]

Published
2024
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46. Corrigendum: The predictive validity of a Brain Care Score for dementia and stroke: data from the UK Biobank cohort.

Author

Singh, Sanjula D., Oreskovic, Tin, Carr, Sinclair, Papier, Keren, Conroy, Megan, Senff, Jasper R., Chemali, Zeina, Gutierrez-Martinez, Leidys, Parodi, Livia, Mayerhofer, Ernst, Marini, Sandro, Nunley, Courtney, Newhouse, Amy, Ouyang, An, Brouwers, H. Bart, Westover, Brandon, Rivier, Cyprien, Falcone, Guido, Howard, Virginia, and Howard, George

Subjects
DISEASE risk factors, STROKE, PREDICTIVE validity, DEMENTIA, PRIVATE equity
Abstract

This correction notice from the journal "Frontiers in Neurology" addresses the omission of Dr. Westover's disclosure statement in an article about the Brain Care Score for dementia and stroke using data from the UK Biobank cohort. Dr. Westover has private equity as co-founder of Beacon Biosignals and receives compensation for consulting and scientific advisory roles. The authors apologize for the oversight, but state that it does not impact the scientific conclusions of the article. [Extracted from the article]

Published
2024
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48. A genome-wide association study of outcome from traumatic brain injury

Author

Kals, Mart, primary, Kunzmann, Kevin, additional, Parodi, Livia, additional, Radmanesh, Farid, additional, Wilson, Lindsay, additional, Izzy, Saef, additional, Anderson, Christopher D., additional, Puccio, Ava M., additional, Okonkwo, David O., additional, Temkin, Nancy, additional, Steyerberg, Ewout W., additional, Stein, Murray B., additional, Manley, Geoff T., additional, Maas, Andrew I.R., additional, Richardson, Sylvia, additional, Diaz-Arrastia, Ramon, additional, Palotie, Aarno, additional, Ripatti, Samuli, additional, Rosand, Jonathan, additional, Menon, David K., additional, Åkerlund, Cecilia, additional, Amrein, Krisztina, additional, Andelic, Nada, additional, Andreassen, Lasse, additional, Anke, Audny, additional, Antoni, Anna, additional, Audibert, Gérard, additional, Azouvi, Philippe, additional, Azzolini, Maria Luisa, additional, Bartels, Ronald, additional, Barzó, Pál, additional, Beauvais, Romuald, additional, Beer, Ronny, additional, Bellander, Bo-Michael, additional, Belli, Antonio, additional, Benali, Habib, additional, Berardino, Maurizio, additional, Beretta, Luigi, additional, Blaabjerg, Morten, additional, Bragge, Peter, additional, Brazinova, Alexandra, additional, Brinck, Vibeke, additional, Brooker, Joanne, additional, Brorsson, Camilla, additional, Buki, Andras, additional, Bullinger, Monika, additional, Cabeleira, Manuel, additional, Caccioppola, Alessio, additional, Calappi, Emiliana, additional, Calvi, Maria Rosa, additional, Cameron, Peter, additional, Lozano, Guillermo Carbayo, additional, Carbonara, Marco, additional, Cavallo, Simona, additional, Chevallard, Giorgio, additional, Chieregato, Arturo, additional, Citerio, Giuseppe, additional, Clusmann, Hans, additional, Coburn, Mark, additional, Coles, Jonathan P., additional, Cooper, Jamie D., additional, Correia, Marta, additional, Čović, Amra, additional, Curry, Nicola, additional, Czeiter, Endre, additional, Czosnyka, Marek, additional, DahyotFizelier, Claire, additional, Dark, Paul, additional, Dawes, Helen, additional, De Keyser, Véronique, additional, Degos, Vincent, additional, Corte, Francesco Della, additional, Boogert, Hugo den, additional, Depreitere, Bart, additional, Đilvesi, Đula, additional, Dixit, Abhishek, additional, Donoghue, Emma, additional, Dreier, Jens, additional, Dulière, GuyLoup, additional, Ercole, Ari, additional, Esser, Patrick, additional, Ezer, Erzsébet, additional, Fabricius, Martin, additional, Feigin, Valery L., additional, Foks, Kelly, additional, Frisvold, Shirin, additional, Furmanov, Alex, additional, Gagliardo, Pablo, additional, Galanaud, Damien, additional, Gantner, Dashiell, additional, Gao, Guoyi, additional, George, Pradeep, additional, Ghuysen, Alexandre, additional, Giga, Lelde, additional, Glocker, Ben, additional, Golubovic, Jagoš, additional, Gomez, Pedro A., additional, Gratz, Johannes, additional, Gravesteijn, Benjamin, additional, Grossi, Francesca, additional, Gruen, Russell L., additional, Gupta, Deepak, additional, Haagsma, Juanita A., additional, Haitsma, Iain, additional, Helbok, Raimund, additional, Helseth, Eirik, additional, Horton, Lindsay, additional, Huijben, Jilske, additional, Hutchinson, Peter J.A., additional, Jacobs, Bram, additional, Jankowski, Stefan, additional, Jarrett, Mike, additional, Jiang, Jiyao, additional, Johnson, Faye, additional, Jones, Kelly, additional, Karan, Mladen, additional, Kolias, Angelos G., additional, Kompanje, Erwin, additional, Kondziella, Daniel, additional, Kornaropoulos, Evgenios, additional, Koskinen, LarsOwe, additional, Kovács, Noémi, additional, Kowark, Ana, additional, Lagares, Alfonso, additional, Lanyon, Linda, additional, Laureys, Steven, additional, Lecky, Fiona, additional, Ledoux, Didier, additional, Lefering, Rolf, additional, Legrand, Valerie, additional, Lejeune, Aurelie, additional, Levi, Leon, additional, Lightfoot, Roger, additional, Lingsma, Hester, additional, CastañoLeón, Ana M., additional, Maegele, Marc, additional, Majdan, Marek, additional, Manara, Alex, additional, Martino, Costanza, additional, Maréchal, Hugues, additional, Mattern, Julia, additional, McMahon, Catherine, additional, Melegh, Béla, additional, Menovsky, Tomas, additional, Mikolic, Ana, additional, Misset, Benoit, additional, Muraleedharan, Visakh, additional, Murray, Lynnette, additional, Negru, Ancuta, additional, Nelson, David, additional, Newcombe, Virginia F.J., additional, Nieboer, Daan, additional, Nyirádi, József, additional, Olubukola, Otesile, additional, Oresic, Matej, additional, Ortolano, Fabrizio, additional, Parizel, Paul M., additional, Payen, JeanFrançois, additional, Perera, Natascha, additional, Perlbarg, Vincent, additional, Persona, Paolo, additional, Peul, Wilco, additional, Piippo-Karjalainen, Anna, additional, Pirinen, Matti, additional, Pisica, Dana, additional, Ples, Horia, additional, Polinder, Suzanne, additional, Pomposo, Inigo, additional, Posti, Jussi P., additional, Puybasset, Louis, additional, Radoi, Andreea, additional, Ragauskas, Arminas, additional, Raj, Rahul, additional, Rambadagalla, Malinka, additional, Helmrich, Isabel Retel, additional, Rhodes, Jonathan, additional, Richter, Sophie, additional, Rocka, Saulius, additional, Roe, Cecilie, additional, Roise, Olav, additional, Rosenfeld, Jeffrey V., additional, Rosenlund, Christina, additional, Rosenthal, Guy, additional, Rossaint, Rolf, additional, Rossi, Sandra, additional, Rueckert, Daniel, additional, Rusnák, Martin, additional, Sahuquillo, Juan, additional, Sakowitz, Oliver, additional, SanchezPorras, Renan, additional, Sandor, Janos, additional, Schäfer, Nadine, additional, Schmidt, Silke, additional, Schoechl, Herbert, additional, Schoonman, Guus, additional, Schou, Rico Frederik, additional, Schwendenwein, Elisabeth, additional, Sewalt, Charlie, additional, Skandsen, Toril, additional, Smielewski, Peter, additional, Sorinola, Abayomi, additional, Stamatakis, Emmanuel, additional, Stanworth, Simon, additional, Stevens, Robert, additional, Stewart, William, additional, Stocchetti, Nino, additional, Sundström, Nina, additional, Takala, Riikka, additional, Tamás, Viktória, additional, Tamosuitis, Tomas, additional, Taylor, Mark Steven, additional, Ao, Braden Te, additional, Tenovuo, Olli, additional, Theadom, Alice, additional, Thomas, Matt, additional, Tibboel, Dick, additional, Timmers, Marjolein, additional, Tolias, Christos, additional, Trapani, Tony, additional, Tudora, Cristina Maria, additional, Unterberg, Andreas, additional, Vajkoczy, Peter, additional, Vallance, Shirley, additional, Valeinis, Egils, additional, Vámos, Zoltán, additional, van der Jagt, Mathieu, additional, van der Steen, Gregory, additional, van der Naalt, Joukje, additional, van Dijck, Jeroen T.J.M., additional, van Essen, Thomas A., additional, Van Hecke, Wim, additional, van Heugten, Caroline, additional, Van Praag, Dominique, additional, van Veen, Ernest, additional, Vyvere, Thijs Vande, additional, van Wijk, Roel P.J., additional, Vargiolu, Alessia, additional, Vega, Emmanuel, additional, Velt, Kimberley, additional, Verheyden, Jan, additional, Vespa, Paul M., additional, Vik, Anne, additional, Vilcinis, Rimantas, additional, Volovici, Victor, additional, von Steinbüchel, Nicole, additional, Voormolen, Daphne, additional, Vulekovic, Petar, additional, Wang, Kevin K.W., additional, Wiegers, Eveline, additional, Williams, Guy, additional, Winzeck, Stefan, additional, Wolf, Stefan, additional, Yang, Zhihui, additional, Ylén, Peter, additional, Younsi, Alexander, additional, Zeiler, Frederick A., additional, Zelinkova, Veronika, additional, Ziverte, Agate, additional, Zoerle, Tommaso, additional, Frantzén, Janek, additional, Katila, Ari, additional, Maanpää, Henna-Rikka, additional, Tallus, Jussi, additional, Adeoye, Opeolu, additional, Badjatia, Neeraj, additional, Boase, Kim, additional, Barber, Jason, additional, Bodien, Yelena, additional, Chesnut, Randall, additional, Corrigan, John D., additional, Crawford, Karen, additional, Dikmen, Sureyya, additional, Duhaime, Ann-Christine, additional, Ellenbogen, Richard, additional, Feeser, Ramana, additional, Ferguson, Adam R., additional, Foreman, Brandon, additional, Gardner, Raquel, additional, Gaudette, Etienne, additional, Giacino, Joseph, additional, Goldman, Dana, additional, Gonzalez, Luis, additional, Gopinath, Shankar, additional, Gullapalli, Rao, additional, Hemphill, Claude, additional, Hotz, Gillian, additional, Jain, Sonia, additional, Keene, Dirk, additional, Korley, Frederick K., additional, Kramer, Joel, additional, Kreitzer, Natalie, additional, Levin, Harvey, additional, Lindsell, Chris, additional, Machamer, Joan, additional, Madden, Christopher, additional, Manley, Geoffrey T., additional, Martin, Alastair, additional, McAllister, Thomas, additional, McCrea, Michael, additional, Merchant, Randall, additional, Mukherjee, Pratik, additional, Nelson, Lindsay, additional, Ngwenya, Laura B, additional, Noel, Florence, additional, Nolan, Amber, additional, Okonkwo, David, additional, Palacios, Eva, additional, Perl, Daniel, additional, Puccio, Ava, additional, Rabinowitz, Miri, additional, Robertson, Claudia, additional, Sander, Angelle, additional, Satris, Gabriella, additional, Schnyer, David, additional, Seabury, Seth, additional, Sherer, Mark, additional, Stein, Murray, additional, Taylor, Sabrina, additional, Toga, Arthur, additional, Valadka, Alex, additional, Vassar, Mary, additional, Yue, John K., additional, Yuh, Esther, additional, and Zafonte, Ross, additional

Published
2022
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49. sj-docx-1-wso-10.1177_17474930221095696 – Supplemental material for Shared genetic background between SARS-CoV-2 infection and large artery stroke

Author

Parodi, Livia, Myserlis, Evangelos Pavlos, Chung, Jaeyoon, Georgakis, Marios K, Mayerhofer, Ernst, Henry, Jonathan, Montgomery, Bailey E, Moy, Mandy, Xu, Huichun, Malik, Rainer, Langefeld, Carl D, Dichgans, Martin, Woo, Daniel, Rosand, Jonathan, and Anderson, Christopher D

Subjects
FOS: Clinical medicine, Cardiology, Medicine, 110904 Neurology and Neuromuscular Diseases
Abstract

Supplemental material, sj-docx-1-wso-10.1177_17474930221095696 for Shared genetic background between SARS-CoV-2 infection and large artery stroke by Livia Parodi, Evangelos Pavlos Myserlis, Jaeyoon Chung, Marios K Georgakis, Ernst Mayerhofer, Jonathan Henry, Bailey E Montgomery, Mandy Moy, Huichun Xu, Rainer Malik, Carl D Langefeld, Martin Dichgans, Daniel Woo, Jonathan Rosand and Christopher D Anderson in International Journal of Stroke

Published
2022
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50. Shared genetic background between SARS-CoV-2 infection and large artery stroke

Author

Parodi, Livia, Myserlis, Evangelos Pavlos, Langefeld, Carl D, Dichgans, Martin, Network, NINDS-Stroke Genetics, Woo, Daniel, Rosand, Jonathan, Anderson, Christopher D, Consortium, International Stroke Genetics, Chung, Jaeyoon, Georgakis, Marios K, Mayerhofer, Ernst, Henry, Jonathan, Montgomery, Bailey E, Moy, Mandy, Xu, Huichun, and Malik, Rainer

Subjects
ischaemic stroke, Neurology, SARS-CoV-2, large artery stroke, COVID-19, cerebrovascular disorders, ddc:610, stroke
Abstract

Background and aims: Increased risk of stroke, particularly large artery stroke (LAS), has been observed in patients with COVID-19. The biological processes underlying the observed higher risk are still unknown. We explored the association between stroke subtypes and COVID-19 susceptibility to understand whether biological mechanisms specific to SARS-CoV-2 uptake/infection could be leading to excess stroke risk in this population. Patients and methods: We constructed a polygenic risk score (PRS) of COVID-19 susceptibility and tested its association with stroke subtypes using individual- and summary-level genetic data (SiGN, MEGASTROKE). We generated co-expression networks of genes involved in SARS-CoV-2 uptake/infection ( ACE2, TMPRSS2, BEST3, ISLR2 and ADAM17) based on existing tissue expression libraries. Gene-based association testing was performed using S-PrediXcan and VEGAS2. Permutation independence tests were performed to assess SARS-CoV-2-related gene enrichment in stroke and its subtypes. Results: Our PRS demonstrated an association between COVID-19 susceptibility and LAS in SiGN (OR = 1.05 per SD increase, 95% CI: (1.00, 1.10), p = 0.04) and MEGASTROKE (β = 0.510, 95% CI: (0.242, 0.779), FDR-p = 0.0019). The SARS-CoV-2 risk-related ISLR2 co-expression gene network was significantly associated with genetic risk of LAS in aorta, tibial arteries, and multiple brain regions (P Conclusion: Presence of genetic correlation and significant pathway enrichment suggest that increases in LAS risk reported in COVID-19 patients may be intrinsic to the viral infection, rather than a more generalized response to severe illness.

Published
2022
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