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2. KCNA2 IgG autoimmunity in neuropsychiatric diseases

Author

Arlt, Friederike A., Miske, Ramona, Machule, Marie-Luise, Broegger Christensen, Peter, Mindorf, Swantje, Teegen, Bianca, Borowski, Kathrin, Buthut, Maria, Rößling, Rosa, Sánchez-Sendín, Elisa, van Hoof, Scott, Cordero-Gómez, César, Bünger, Isabel, Radbruch, Helena, Kraft, Andrea, Ayzenberg, Ilya, Klausewitz, Jaqueline, Hansen, Niels, Timäus, Charles, Körtvelyessy, Peter, Postert, Thomas, Baur-Seack, Kirsten, Rost, Constanze, Brunkhorst, Robert, Doppler, Kathrin, Haigis, Niklas, Hamann, Gerhard, Kunze, Albrecht, Stützer, Alexandra, Maschke, Matthias, Melzer, Nico, Rosenow, Felix, Siebenbrodt, Kai, Stenør, Christian, Dichgans, Martin, Georgakis, Marios K., Fang, Rong, Petzold, Gabor C., Görtler, Michael, Zerr, Inga, Wunderlich, Silke, Mihaljevic, Ivan, Turko, Paul, Schmidt Ettrup, Marianne, Buchholz, Emilie, Foverskov Rasmussen, Helle, Nasouti, Mahoor, Talucci, Ivan, Maric, Hans M., Heinemann, Stefan H., Endres, Matthias, Komorowski, Lars, and Prüss, Harald

Published
2024
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4. Proteogenomic Data Integration Reveals CXCL10 as a Potentially Downstream Causal Mediator for IL-6 Signaling on Atherosclerosis

Author

Prapiadou, Savvina, Živković, Luka, Thorand, Barbara, George, Marc J., van der Laan, Sander W., Malik, Rainer, Herder, Christian, Koenig, Wolfgang, Ueland, Thor, Kleveland, Ola, Aukrust, Pål, Gullestad, Lars, Bernhagen, Jürgen, Pasterkamp, Gerard, Peters, Annette, Hingorani, Aroon D., Rosand, Jonathan, Dichgans, Martin, Anderson, Christopher D., and Georgakis, Marios K.

Published
2023
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5. 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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7. The Meta VCI Map consortium for meta‐analyses on strategic lesion locations for vascular cognitive impairment using lesion‐symptom mapping: Design and multicenter pilot study

Author

Weaver, Nick A, Zhao, Lei, Biesbroek, J Matthijs, Kuijf, Hugo J, Aben, Hugo P, Bae, Hee‐Joon, Caballero, Miguel ÁA, Chappell, Francesca M, Chen, Christopher PLH, Dichgans, Martin, Duering, Marco, Georgakis, Marios K, van der Giessen, Ruben S, Gyanwali, Bibek, Hamilton, Olivia KL, Hilal, Saima, Hofe, Elise M vom, de Kort, Paul LM, Koudstaal, Peter J, Lam, Bonnie YK, Lim, Jae‐Sung, Makin, Stephen DJ, Mok, Vincent CT, Shi, Lin, Hernández, Maria C Valdés, Venketasubramanian, Narayanaswamy, Wardlaw, Joanna M, Wollenweber, Frank A, Wong, Adrian, Xin, Xu, consortium, Meta VCI Map, DeCarli, C, Fletcher, EA, Maillard, P, Barnes, J, Sudre, CH, Schott, JM, Ikram, MA, Papma, JM, Steketee, RME, Vernooij, MW, Bordet, R, Lopes, R, Huang, C‐W, Frayne, R, McCreary, CR, Smith, EE, group, Calgary Normative Study, Backes, W, Köhler, S, van Oostenbrugge, RJ, Staals, J, Verhey, F, Cheng, CY, Kalaria, RN, Werring, D, Hsu, JL, Huang, K‐L, van der Grond, J, Jukema, JW, van der Mast, RC, Nijboer, TCW, group, Framingham Heart Study, Yu, K‐H, group, The Dutch Parelsnoer Institute–Neurodegenerative diseases, Schmidt, R, Pirpamer, L, MacIntosh, BJ, Robertson, AD, de Leeuw, F‐E, Tuladhar, AM, Chaturvedi, N, Tillin, T, Brodaty, H, Sachdev, P, group, TABASCO, Barkhof, F, van der Flier, WM, Kappelle, LJ, and Biessels, Geert Jan

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Biomedical Imaging, Atherosclerosis, Clinical Research, Brain Disorders, Acquired Cognitive Impairment, Stroke, Neurosciences, Meta VCI Map consortium, Cerebrovascular disease, Consortium, Data harmonization, Lesion location, Lesion-symptom mapping, Small vessel disease, Support vector regression, Vascular cognitive impairment, Genetics, Biological psychology
Abstract

IntroductionThe Meta VCI Map consortium performs meta-analyses on strategic lesion locations for vascular cognitive impairment using lesion-symptom mapping. Integration of data from different cohorts will increase sample sizes, to improve brain lesion coverage and support comprehensive lesion-symptom mapping studies.MethodsCohorts with available imaging on white matter hyperintensities or infarcts and cognitive testing were invited. We performed a pilot study to test the feasibility of multicenter data processing and analysis and determine the benefits to lesion coverage.ResultsForty-seven groups have joined Meta VCI Map (stroke n = 7800 patients; memory clinic n = 4900; population-based n = 14,400). The pilot study (six ischemic stroke cohorts, n = 878) demonstrated feasibility of multicenter data integration (computed tomography/magnetic resonance imaging) and achieved marked improvement of lesion coverage.DiscussionMeta VCI Map will provide new insights into the relevance of vascular lesion location for cognitive dysfunction. After the successful pilot study, further projects are being prepared. Other investigators are welcome to join.

Published
2019

10. Advanced parental age as risk factor for childhood acute lymphoblastic leukemia: results from studies of the Childhood Leukemia International Consortium

Author

Petridou, Eleni Th, Georgakis, Marios K, Erdmann, Friederike, Ma, Xiaomei, Heck, Julia E, Auvinen, Anssi, Mueller, Beth A, Spector, Logan G, Roman, Eve, Metayer, Catherine, Magnani, Corrado, Pombo-de-Oliveira, Maria S, Ezzat, Sameera, Scheurer, Michael E, Mora, Ana Maria, Dockerty, John D, Hansen, Johnni, Kang, Alice Y, Wang, Rong, Doody, David R, Kane, Eleanor, Rashed, Waffa M, Dessypris, Nick, Schüz, Joachim, Infante-Rivard, Claire, and Skalkidou, Alkistis

Subjects
Epidemiology, Public Health, Health Sciences, Rare Diseases, Pediatric, Cancer, Clinical Research, Hematology, Pediatric Research Initiative, Childhood Leukemia, Pediatric Cancer, Reproductive health and childbirth, Case-Control Studies, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Male, Maternal Age, Parents, Paternal Age, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Pregnancy, Prenatal Exposure Delayed Effects, Risk Factors, Maternal age, Paternal age, Acute lymphoblastic leukemia, Childhood, Risk factors, Case-control, Case–control, Public Health and Health Services
Abstract

Advanced parental age has been associated with adverse health effects in the offspring including childhood (0-14 years) acute lymphoblastic leukemia (ALL), as reported in our meta-analysis of published studies. We aimed to further explore the association using primary data from 16 studies participating in the Childhood Leukemia International Consortium. Data were contributed by 11 case-control (CC) studies (7919 cases and 12,942 controls recruited via interviews) and five nested case-control (NCC) studies (8801 cases and 29,690 controls identified through record linkage of population-based health registries) with variable enrollment periods (1968-2015). Five-year paternal and maternal age increments were introduced in two meta-analyses by study design using adjusted odds ratios (OR) derived from each study. Increased paternal age was associated with greater ALL risk in the offspring (ORCC 1.05, 95% CI 1.00-1.11; ORNCC 1.04, 95% CI 1.01-1.07). A similar positive association with advanced maternal age was observed only in the NCC results (ORCC 0.99, 95% CI 0.91-1.07, heterogeneity I2 = 58%, p = 0.002; ORNCC 1.05, 95% CI 1.01-1.08). The positive association between parental age and risk of ALL was most marked among children aged 1-5 years and remained unchanged following mutual adjustment for the collinear effect of the paternal and maternal age variables; analyses of the relatively small numbers of discordant paternal-maternal age pairs were not fully enlightening. Our results strengthen the evidence that advanced parental age is associated with increased childhood ALL risk; collinearity of maternal with paternal age complicates causal interpretation. Employing datasets with cytogenetic information may further elucidate involvement of each parental component and clarify underlying mechanisms.

Published
2018

15. Translating Anti-Inflammatory Strategies for Atherosclerosis: Deep Phenotyping, Next-Generation Drug Targets, and Precision Medicine.

Author

Asare, Yaw and Georgakis, Marios K.

Subjects
*REGULATORY T cells, *MAJOR adverse cardiovascular events, *ATHEROSCLEROTIC plaque, *CARDIOVASCULAR system, *POSITRON emission tomography, *METABOLOMICS
Abstract

Atherosclerosis, a condition characterized by inflammation in the arteries, is the main cause of cardiovascular disease (CVD), including heart attacks and strokes. While current treatments focus on lowering cholesterol levels, new anti-inflammatory strategies are being explored as potential therapies for atherosclerosis. These strategies involve targeting the immune system's role in atherosclerosis and have shown promise in reducing CVD risk. However, challenges such as the risk of infections and individual variability in drug response need to be addressed. Advances in technologies like single-cell transcriptomics and PET imaging are aiding in the deeper understanding of the immune landscape of atherosclerosis and the identification of potential drug targets and biomarkers. These developments may lead to personalized therapies for atherosclerosis in the future. [Extracted from the article]

Published
2024
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17. Proteogenomic Data Integration Reveals CXCL10 as a Potentially Downstream Causal Mediator for IL-6 Signaling on Atherosclerosis

Author

Prapiadou, Savvina, primary, Živković, Luka, additional, Thorand, Barbara, additional, George, Marc J., additional, van der Laan, Sander W., additional, Malik, Rainer, additional, Herder, Christian, additional, Koenig, Wolfgang, additional, Ueland, Thor, additional, Kleveland, Ola, additional, Aukrust, Pål, additional, Gullestad, Lars, additional, Bernhagen, Jürgen, additional, Pasterkamp, Gerard, additional, Peters, Annette, additional, Hingorani, Aroon D., additional, Rosand, Jonathan, additional, Dichgans, Martin, additional, Anderson, Christopher D., additional, and Georgakis, Marios K., additional

Published
2024
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18. Mendelian Randomization Applied to Neurology

Author

Gagnon, Eloi, primary, Daghlas, Iyas, additional, Zagkos, Loukas, additional, Sargurupremraj, Muralidharan, additional, Georgakis, Marios K., additional, Anderson, Christopher D., additional, Cronje, Helene T., additional, Burgess, Stephen, additional, Arsenault, Benoit J., additional, and Gill, Dipender, additional

Published
2024
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20. 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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24. 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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26. The Meta VCI Map consortium for meta-analyses on strategic lesion locations for vascular cognitive impairment using lesion-symptom mapping: Design and multicenter pilot study

Author

DeCarli, C., Fletcher, E.A., Maillard, P., Barnes, J., Sudre, C.H., Schott, J.M., Ikram, M.A., Papma, J.M., Steketee, R.M.E., Vernooij, M.W., Bordet, R., Lopes, R., Huang, C.-W., Frayne, R., McCreary, C.R., Smith, E.E., Backes, W., Köhler, S., van Oostenbrugge, R.J., Staals, J., Verhey, F., Cheng, C.Y., Kalaria, R.N., Werring, D., Hsu, J.L., Huang, K.-L., van der Grond, J., Jukema, J.W., van der Mast, R.C., Nijboer, T.C.W., Yu, K.-H., Schmidt, R., Pirpamer, L., MacIntosh, B.J., Robertson, A.D., de Leeuw, F.-E., Tuladhar, A.M., Chaturvedi, N., Tillin, T., Brodaty, H., Sachdev, P., Barkhof, F., van der Flier, W.M., Kappelle, L.J., Weaver, Nick A., Zhao, Lei, Biesbroek, J. Matthijs, Kuijf, Hugo J., Aben, Hugo P., Bae, Hee-Joon, Caballero, Miguel Á.A., Chappell, Francesca M., Chen, Christopher P.L.H., Dichgans, Martin, Duering, Marco, Georgakis, Marios K., van der Giessen, Ruben S., Gyanwali, Bibek, Hamilton, Olivia K.L., Hilal, Saima, vom Hofe, Elise M., de Kort, Paul L.M., Koudstaal, Peter J., Lam, Bonnie Y.K., Lim, Jae-Sung, Makin, Stephen D.J., Mok, Vincent C.T., Shi, Lin, Valdés Hernández, Maria C., Venketasubramanian, Narayanaswamy, Wardlaw, Joanna M., Wollenweber, Frank A., Wong, Adrian, Xin, Xu, and Biessels, Geert Jan

Published
2019
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29. Clinical presentation of young people (10–24 years old) with brain tumors: results from the international MOBI-Kids study

Author

Zumel-Marne, Angela, Kundi, Michael, Castaño-Vinyals, Gemma, Alguacil, Juan, Petridou, Eleni Th, Georgakis, Marios K., Morales-Suárez-Varela, Maria, Sadetzki, Siegal, Piro, Sara, Nagrani, Rajini, Filippini, Graziella, Hutter, Hans-Peter, Dikshit, Rajesh, Woehrer, Adelheid, Maule, Milena, Weinmann, Tobias, Krewski, Daniel, ′t Mannetje, Andrea, Momoli, Franco, Lacour, Brigitte, Mattioli, Stefano, Spinelli, John J., Ritvo, Paul, Remen, Thomas, Kojimahara, Noriko, Eng, Amanda, Thurston, Angela, Lim, Hyungryul, Ha, Mina, Yamaguchi, Naohito, Mohipp, Charmaine, Bouka, Evdoxia, Eastman, Chelsea, Vermeulen, Roel, Kromhout, Hans, and Cardis, Elisabeth

Published
2020
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32. Perinatal and early life risk factors for childhood brain tumors: Is instrument-assisted delivery associated with higher risk?

Author

Bourgioti, Charis, Dana, Helen, Papadopoulos, Savvas, Sfakianos, Georgios, Themistocleous, Marios, Stefanaki, Kalliopi, Strantzia, Katerina, Zountsas, Basilios, Vakis, Antonios, Manolitsi, Katerina, Kelekis, Nikolaos, Papathanasiou, Mathilda, Gkantaifi, Areti, Koutzoglou, Michalis, Koletsa, Triantafyllia, Nikas, Ioannis, Zacharoulis, Stergios, Prassopoulos, Panagiotis, Orfanides, George, Panagiotis, Primikiris, Zerris, Vasilios, Friehs, Gerhard, Vyziotis, Alex, Patsouris, Eustratios, Georgakis, Marios K., Dessypris, Nick, Papadakis, Vassilios, Tragiannidis, Athanasios, Bouka, Evdoxia, Hatzipantelis, Emmanuel, Moschovi, Maria, Papakonstantinou, Evgenia, Polychronopoulou, Sophia, Sgouros, Spyridon, Stiakaki, Eftichia, Pourtsidis, Apostolos, Psaltopoulou, Theodora, and Petridou, Eleni Th.

Published
2019
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38. 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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39. 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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41. Carriers of rare damaging CCR2 genetic variants are at lower risk of atherosclerotic disease

Author

Georgakis, Marios K, primary, Malik, Rainer, additional, Hasbani, Natalie R, additional, Shakt, Gabrielle, additional, Morrison, Alanna, additional, Tsao, Noah L, additional, Judy, Renae, additional, Mitchell, Braxton D, additional, Xu, Huichun, additional, Montasser, May E, additional, Do, Ron, additional, Kenny, Eimear, additional, Loos, Ruth J.F., additional, Terry, James G, additional, Carr, John Jeffrey, additional, Bis, Joshua C., additional, Psaty, Bruce M., additional, Longstreth, W T, additional, Young, Kendra, additional, Lutz, Sharon M, additional, Cho, Michael, additional, Broome, Jai, additional, Khan, Alyna T, additional, Wang, Fei Fei, additional, Heard-Costa, Nancy, additional, Seshadri, Sudha, additional, Ramachandran, Vasan, additional, Palmer, Nicholette D., additional, Freedman, Barry I, additional, Bowden, Donald W, additional, Yanek, Lisa R, additional, Kral, Brian G, additional, Becker, Lewis C, additional, Peyser, Patricia A, additional, Bielak, Lawrence F, additional, Ammous, Farah, additional, Carson, April P., additional, Hall, Michael E, additional, Raffield, Laura M, additional, Rich, Steve, additional, Post, Wendy, additional, Tracy, Russell, additional, Taylor, Kent, additional, Guo, Xiuqing, additional, Mahaney, Michael, additional, Curran, Joanne E., additional, Blangero, John, additional, Clarke, Shoa L., additional, Haessler, Jeffrey, additional, Hu, Yao, additional, Assimes, Themistocles L, additional, Kooperberg, Charles, additional, Damrauer, Scott M., additional, Rotter, Jerome, additional, de Vries, Paul S, additional, and Dichgans, Martin, additional

Published
2023
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43. Persisting inequalities in survival patterns of childhood neuroblastoma in Southern and Eastern Europe and the effect of socio-economic development compared with those of the US

Author

Panagopoulou, Paraskevi, Georgakis, Marios K., Baka, Margarita, Moschovi, Maria, Papadakis, Vassilios, Polychronopoulou, Sophia, Kourti, Maria, Hatzipantelis, Emmanuel, Stiakaki, Eftichia, Dana, Helen, Tragiannidis, Athanasios, Bouka, Evdoxia, Antunes, Luis, Bastos, Joana, Coza, Daniela, Demetriou, Anna, Agius, Domenic, Eser, Sultan, Gheorghiu, Raluca, Šekerija, Mario, Trojanowski, Maciej, Žagar, Tina, Zborovskaya, Anna, Ryzhov, Anton, Dessypris, Nick, Morgenstern, Daniel, and Petridou, Eleni Th

Published
2018
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44. Childhood nephroblastoma in Southern and Eastern Europe and the US: Incidence variations and temporal trends by human development index

Author

Doganis, Dimitrios, Panagopoulou, Paraskevi, Tragiannidis, Athanasios, Georgakis, Marios K., Moschovi, Maria, Polychronopoulou, Sofia, Rigatou, Efthimia, Papakonstantinou, Eugenia, Stiakaki, Eftichia, Dana, Helen, Bouka, Evdoxia, Antunes, Luis, Bastos, Joana, Coza, Daniela, Demetriou, Anna, Agius, Domenic, Eser, Sultan, Ryzhov, Anton, Sekerija, Mario, Trojanowski, Maciej, Zagar, Tina, Zborovskaya, Anna, Perisic, Snezana Zivkovic, Stefanaki, Kalliopi, Dessypris, Nick, and Petridou, Eleni Th.

Published
2018
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48. Central nervous system tumours among adolescents and young adults (15–39 years) in Southern and Eastern Europe: Registration improvements reveal higher incidence rates compared to the US

Author

Georgakis, Marios K., Panagopoulou, Paraskevi, Papathoma, Paraskevi, Tragiannidis, Athanasios, Ryzhov, Anton, Zivkovic-Perisic, Snezana, Eser, Sultan, Taraszkiewicz, Łukasz, Sekerija, Mario, Žagar, Tina, Antunes, Luis, Zborovskaya, Anna, Bastos, Joana, Florea, Margareta, Coza, Daniela, Demetriou, Anna, Agius, Domenic, Strahinja, Rajko M., Sfakianos, Georgios, Nikas, Ioannis, Kosmidis, Sofia, Razis, Evangelia, Pourtsidis, Apostolos, Kantzanou, Maria, Dessypris, Nick, and Petridou, Eleni Th.

Published
2017
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50. Incidence and time trends of childhood lymphomas : findings from 14 Southern and Eastern European cancer registries and the Surveillance, Epidemiology and End Results, USA

Author

Georgakis, Marios K., Karalexi, Maria A., Agius, Domenic, Antunes, Luis, Bastos, Joana, Coza, Daniela, Demetriou, Anna, Dimitrova, Nadya, Eser, Sultan, Florea, Margareta, Ryzhov, Anton, Sekerija, Mario, Žagar, Tina, Zborovskaya, Anna, Zivkovic, Snezana, Bouka, Evdoxia, Kanavidis, Prodromos, Dana, Helen, Hatzipantelis, Emmanuel, Kourti, Maria, Moschovi, Maria, Polychronopoulou, Sophia, Stiakaki, Eftichia, Kantzanou, Maria, Pourtsidis, Apostolos, and Petridou, Eleni Th.

Published
2016

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