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355 results on '"Muñoz Maniega, Susana"'

1. Epigenetic scores of blood-based proteins as biomarkers of general cognitive function and brain health

Author

Smith, Hannah M., Moodie, Joanna E., Monterrubio-Gómez, Karla, Gadd, Danni A., Hillary, Robert F., Chybowska, Aleksandra D., McCartney, Daniel L., Campbell, Archie, Redmond, Paul, Page, Danielle, Taylor, Adele, Corley, Janie, Harris, Sarah E., Valdés Hernández, Maria, Muñoz Maniega, Susana, Bastin, Mark E., Wardlaw, Joanna M., Deary, Ian J., Boardman, James P., Mullin, Donncha S., Russ, Tom C., Cox, Simon R., and Marioni, Riccardo E.

Published
2024
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2. Stochastic Uncertainty Quantification Techniques Fail to Account for Inter-analyst Variability in White Matter Hyperintensity Segmentation

Author

Philps, Ben, del C. Valdes Hernandez, Maria, Munoz Maniega, Susana, Bastin, Mark E., Sakka, Eleni, Clancy, Una, Wardlaw, Joanna M., Bernabeu, Miguel O., Goos, Gerhard, Series Editor, Hartmanis, Juris, Founding Editor, Bertino, Elisa, Editorial Board Member, Gao, Wen, Editorial Board Member, Steffen, Bernhard, Editorial Board Member, Yung, Moti, Editorial Board Member, Yap, Moi Hoon, editor, Kendrick, Connah, editor, Behera, Ardhendu, editor, Cootes, Timothy, editor, and Zwiggelaar, Reyer, editor

Published
2024
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5. Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease

Author

Duperron, Marie-Gabrielle, Knol, Maria J., Le Grand, Quentin, Evans, Tavia E., Mishra, Aniket, Tsuchida, Ami, Roshchupkin, Gennady, Konuma, Takahiro, Trégouët, David-Alexandre, Romero, Jose Rafael, Frenzel, Stefan, Luciano, Michelle, Hofer, Edith, Bourgey, Mathieu, Dueker, Nicole D., Delgado, Pilar, Hilal, Saima, Tankard, Rick M., Dubost, Florian, Shin, Jean, Saba, Yasaman, Armstrong, Nicola J., Bordes, Constance, Bastin, Mark E., Beiser, Alexa, Brodaty, Henry, Bülow, Robin, Carrera, Caty, Chen, Christopher, Cheng, Ching-Yu, Deary, Ian J., Gampawar, Piyush G., Himali, Jayandra J., Jiang, Jiyang, Kawaguchi, Takahisa, Li, Shuo, Macalli, Melissa, Marquis, Pascale, Morris, Zoe, Muñoz Maniega, Susana, Miyamoto, Susumu, Okawa, Masakazu, Paradise, Matthew, Parva, Pedram, Rundek, Tatjana, Sargurupremraj, Muralidharan, Schilling, Sabrina, Setoh, Kazuya, Soukarieh, Omar, Tabara, Yasuharu, Teumer, Alexander, Thalamuthu, Anbupalam, Trollor, Julian N., Valdés Hernández, Maria C., Vernooij, Meike W., Völker, Uwe, Wittfeld, Katharina, Wong, Tien Yin, Wright, Margaret J., Zhang, Junyi, Zhao, Wanting, Zhu, Yi-Cheng, Schmidt, Helena, Sachdev, Perminder S., Wen, Wei, Yoshida, Kazumichi, Joutel, Anne, Satizabal, Claudia L., Sacco, Ralph L., Bourque, Guillaume, Lathrop, Mark, Paus, Tomas, Fernandez-Cadenas, Israel, Yang, Qiong, Mazoyer, Bernard, Boutinaud, Philippe, Okada, Yukinori, Grabe, Hans J., Mather, Karen A., Schmidt, Reinhold, Joliot, Marc, Ikram, M. Arfan, Matsuda, Fumihiko, Tzourio, Christophe, Wardlaw, Joanna M., Seshadri, Sudha, Adams, Hieab H. H., and Debette, Stéphanie

Published
2023
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6. Sleep quality, perivascular spaces and brain health markers in ageing - A longitudinal study in the Lothian Birth Cohort 1936

Author

Aribisala, Benjamin S., Valdés Hernández, Maria del C., Okely, Judith A., Cox, Simon R., Ballerini, Lucia, Dickie, David Alexander, Wiseman, Stewart J., Riha, Renata L., Muñoz Maniega, Susana, Radakovic, Ratko, Taylor, Adele, Pattie, Alison, Corley, Janie, Redmond, Paul, Bastin, Mark E., Deary, Ian, and Wardlaw, Joanna M.

Published
2023
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7. Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting.

Author

Chauhan, Ganesh, Adams, Hieab HH, Satizabal, Claudia L, Bis, Joshua C, Teumer, Alexander, Sargurupremraj, Muralidharan, Hofer, Edith, Trompet, Stella, Hilal, Saima, Smith, Albert Vernon, Jian, Xueqiu, Malik, Rainer, Traylor, Matthew, Pulit, Sara L, Amouyel, Philippe, Mazoyer, Bernard, Zhu, Yi-Cheng, Kaffashian, Sara, Schilling, Sabrina, Beecham, Gary W, Montine, Thomas J, Schellenberg, Gerard D, Kjartansson, Olafur, Guðnason, Vilmundur, Knopman, David S, Griswold, Michael E, Windham, B Gwen, Gottesman, Rebecca F, Mosley, Thomas H, Schmidt, Reinhold, Saba, Yasaman, Schmidt, Helena, Takeuchi, Fumihiko, Yamaguchi, Shuhei, Nabika, Toru, Kato, Norihiro, Rajan, Kumar B, Aggarwal, Neelum T, De Jager, Philip L, Evans, Denis A, Psaty, Bruce M, Rotter, Jerome I, Rice, Kenneth, Lopez, Oscar L, Liao, Jiemin, Chen, Christopher, Cheng, Ching-Yu, Wong, Tien Y, Ikram, Mohammad K, van der Lee, Sven J, Amin, Najaf, Chouraki, Vincent, DeStefano, Anita L, Aparicio, Hugo J, Romero, Jose R, Maillard, Pauline, DeCarli, Charles, Wardlaw, Joanna M, Hernández, Maria Del C Valdés, Luciano, Michelle, Liewald, David, Deary, Ian J, Starr, John M, Bastin, Mark E, Muñoz Maniega, Susana, Slagboom, P Eline, Beekman, Marian, Deelen, Joris, Uh, Hae-Won, Lemmens, Robin, Brodaty, Henry, Wright, Margaret J, Ames, David, Boncoraglio, Giorgio B, Hopewell, Jemma C, Beecham, Ashley H, Blanton, Susan H, Wright, Clinton B, Sacco, Ralph L, Wen, Wei, Thalamuthu, Anbupalam, Armstrong, Nicola J, Chong, Elizabeth, Schofield, Peter R, Kwok, John B, van der Grond, Jeroen, Stott, David J, Ford, Ian, Jukema, J Wouter, Vernooij, Meike W, Hofman, Albert, Uitterlinden, André G, van der Lugt, Aad, Wittfeld, Katharina, Grabe, Hans J, Hosten, Norbert, von Sarnowski, Bettina, Völker, Uwe, Levi, Christopher, and Jimenez-Conde, Jordi

Subjects
Stroke Genetics Network (SiGN), the International Stroke Genetics Consortium (ISGC), METASTROKE, Alzheimer's Disease Genetics Consortium (ADGC), and the Neurology Working Group of the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium, Cardiovascular, Aging, Human Genome, Prevention, Stroke, Genetics, 2.1 Biological and endogenous factors, Neurology & Neurosurgery, Clinical Sciences, Neurosciences, Cognitive Sciences
Abstract

OBJECTIVE:To explore genetic and lifestyle risk factors of MRI-defined brain infarcts (BI) in large population-based cohorts. METHODS:We performed meta-analyses of genome-wide association studies (GWAS) and examined associations of vascular risk factors and their genetic risk scores (GRS) with MRI-defined BI and a subset of BI, namely, small subcortical BI (SSBI), in 18 population-based cohorts (n = 20,949) from 5 ethnicities (3,726 with BI, 2,021 with SSBI). Top loci were followed up in 7 population-based cohorts (n = 6,862; 1,483 with BI, 630 with SBBI), and we tested associations with related phenotypes including ischemic stroke and pathologically defined BI. RESULTS:The mean prevalence was 17.7% for BI and 10.5% for SSBI, steeply rising after age 65. Two loci showed genome-wide significant association with BI: FBN2, p = 1.77 × 10-8; and LINC00539/ZDHHC20, p = 5.82 × 10-9. Both have been associated with blood pressure (BP)-related phenotypes, but did not replicate in the smaller follow-up sample or show associations with related phenotypes. Age- and sex-adjusted associations with BI and SSBI were observed for BP traits (p value for BI, p [BI] = 9.38 × 10-25; p [SSBI] = 5.23 × 10-14 for hypertension), smoking (p [BI] = 4.4 × 10-10; p [SSBI] = 1.2 × 10-4), diabetes (p [BI] = 1.7 × 10-8; p [SSBI] = 2.8 × 10-3), previous cardiovascular disease (p [BI] = 1.0 × 10-18; p [SSBI] = 2.3 × 10-7), stroke (p [BI] = 3.9 × 10-69; p [SSBI] = 3.2 × 10-24), and MRI-defined white matter hyperintensity burden (p [BI] = 1.43 × 10-157; p [SSBI] = 3.16 × 10-106), but not with body mass index or cholesterol. GRS of BP traits were associated with BI and SSBI (p ≤ 0.0022), without indication of directional pleiotropy. CONCLUSION:In this multiethnic GWAS meta-analysis, including over 20,000 population-based participants, we identified genetic risk loci for BI requiring validation once additional large datasets become available. High BP, including genetically determined, was the most significant modifiable, causal risk factor for BI.

Published
2019

8. Contribution of white matter hyperintensities to ventricular enlargement in older adults

Author

Jochems, Angela C.C., Muñoz Maniega, Susana, del C Valdés Hernández, Maria, Barclay, Gayle, Anblagan, Devasuda, Ballerini, Lucia, Meijboom, Rozanna, Wiseman, Stewart, Taylor, Adele M., Corley, Janie, Chappell, Francesca M., Backhouse, Ellen V., Stringer, Michael S., Dickie, David Alexander, Bastin, Mark E., Deary, Ian J., Cox, Simon R., and Wardlaw, Joanna M.

Published
2022
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9. Development of imaging-based risk scores for prediction of intracranial haemorrhage and ischaemic stroke in patients taking antithrombotic therapy after ischaemic stroke or transient ischaemic attack: a pooled analysis of individual patient data from cohort studies

Author

Harkness, Kirsty, Shaw, Louise, Sword, Jane, Mohd Nor, Azlisham, Sharma, Pankaj, Kelly, Deborah, Harrington, Frances, Randall, Marc, Smith, Matthew, Mahawish, Karim, Elmarim, Abduelbaset, Esisi, Bernard, Cullen, Claire, Nallasivam, Arumug, Price, Christopher, Barry, Adrian, Roffe, Christine, Coyle, John, Hassan, Ahamad, Birns, Jonathan, Cohen, David, Sekaran, Lakshmanan, Parry-Jones, Adrian, Parry, Anthea, Hargroves, David, Proschel, Harald, Datta, Prabel, Darawil, Khaled, Manoj, Aravindakshan, Burn, Mathew, Patterson, Chris, Giallombardo, Elio, Smyth, Nigel, Mansoor, Syed, Anwar, Ijaz, Marsh, Rachel, Ispoglou, Sissi, Chadha, Dinesh, Prabhakaran, Mathuri, Meenakishundaram, Sanjeevikumar, O'Connell, Janice, Scott, Jon, Krishnamurthy, Vinodh, Aghoram, Prasanna, McCormick, Michael, Sprigg, Nikola, O'Mahony, Paul, Cooper, Martin, Choy, Lillian, Wilkinson, Peter, Leach, Simon, Caine, Sarah, Burger, Ilse, Gunathilagan, Gunaratam, Guyler, Paul, Emsley, Hedley, Davis, Michelle, Manawadu, Dulka, Pasco, Kath, Mamun, Maam, Luder, Robert, Sajid, Mahmud, Okwera, James, Warburton, Elizabeth, Saastamoinen, Kari, England, Timothy, Putterill, Janet, Flossman, Enrico, Power, Michael, Dani, Krishna, Mangion, David, Suman, Appu, Corrigan, John, Lawrence, Enas, Vahidassr, Djamil, Shakeshaft, Clare, Brown, Martin, Charidimou, Andreas, Cohen, Hannah, Banerjee, Gargi, Houlden, Henry, White, Mark, Yousry, Tarek, Flossmann, Enrico, Muir, Keith, Gratz, Pascal, Mattle, Heinrich, Panos, Leonidas, Korczyn, Amos, Kliper, Efrat, Maeder, Philippe, Gass, Achim, Pachai, Chahin, Bracoub, Luc, Douste-Blazy, Marie-Yvonne, Fratacci, Marie Dominique, Vicaut, Eric, Sato, Shoichiro, Miwa, Kaori, Fujita, Kyohei, Ide, Toshihiro, Ma, Henry, Ly, John, Singhal, Shaloo, Chandra, Ronil, Slater, Lee-Anne, Soufan, Cathy, Moran, Christopher, Traenka, Christopher, Thilemann, Sebastian, Fladt, Joachim, Gensicke, Henrik, Bonati, Leo, Kim, Beom Joon, Han, Moon-Ku, Kang, Jihoon, Ko, Eunbin, Yang, Mi Hwa, Jang, Myung Suk, Murphy, Sean, Carty, Fiona, Akijian, Layan, Thornton, John, Schembri, Mark, Douven, Elles, Delgado-Mederos, Raquel, Marín, Rebeca, Camps-Renom, Pol, Guisado-Alonso, Daniel, Nuñez, Fidel, Medrano-Martorell, Santiago, Merino, Elisa, Iida, Kotaro, Ikeda, Syuhei, Irie, Hiroyuki, Demirelli, Derya Selcuk, Medanta, Jayesh Modi, Zerna, Charlotte, Hernández, Maria Valdés, Armitage, Paul, Heye, Anna, Muñoz-Maniega, Susana, Sakka, Eleni, Thrippleton, Michael, Dennis, Martin, Beigneux, Ysoline, Silva, Mauro, Venketasubramanian, Narayanaswamy, Ho, Shu Leung, Cheung, Raymond Tak Fai, Chan, Koon Ho, Teo, Kay Cheong, Hui, Edward, Kwan, Joseph Shiu Kwong, Chang, Richard, Tse, Man Yu, Hoi, Chu Peng, Chan, Chung Yan, Chan, Oi Ling, Cheung, Ryan Hoi Kit, Wong, Edmund Ka Ming, Leung, Kam Tat, Tsang, Suk Fung, Ip, Hing Lung, Ma, Sze Ho, Ma, Karen, Fong, Wing Chi, Li, Siu Hung, Li, Richard, Ng, Ping Wing, Wong, Kwok Kui, Liu, Wenyan, Wong, Lawrence, Ramos, Lino, De Schryver, Els, Jöbsis, Joost, van der Sande, Jaap, Brouwers, Paul, Roos, Yvo, Stam, Jan, Bakker, Stef, Verbiest, Henk, Schoonewille, Wouter, Linn, Cisca, Hertzberger, Leopold, van Gemert, Maarten, Berntsen, Paul, Van Dam-Nolen, Dianne, Kooi, M Eline, Van der Lugt, Aad, Koudstaal, Peter, Leff, Alexander, Ward, Nicholas, Nachev, Parashkev, Perry, Richard, Ozkan, Hatice, Mitchell, John, Best, Jonathan G, Ambler, Gareth, Wilson, Duncan, Lee, Keon-Joo, Lim, Jae-Sung, Shiozawa, Masayuki, Koga, Masatoshi, Li, Linxin, Lovelock, Caroline, Chabriat, Hugues, Hennerici, Michael, Wong, Yuen Kwun, Mak, Henry Ka Fung, Prats-Sanchez, Luis, Martínez-Domeño, Alejandro, Inamura, Shigeru, Yoshifuji, Kazuhisa, Arsava, Ethem Murat, Horstmann, Solveig, Purrucker, Jan, Lam, Bonnie Yin Ka, Wong, Adrian, Kim, Young Dae, Song, Tae-Jin, Lemmens, Robin, Eppinger, Sebastian, Gattringer, Thomas, Uysal, Ender, Tanriverdi, Zeynep, Bornstein, Natan M, Ben Assayag, Einor, Hallevi, Hen, Molad, Jeremy, Nishihara, Masashi, Tanaka, Jun, Coutts, Shelagh B, Polymeris, Alexandros, Wagner, Benjamin, Seiffge, David J, Lyrer, Philippe, Algra, Ale, Kappelle, L Jaap, Al-Shahi Salman, Rustam, Jäger, Hans R, Lip, Gregory Y H, Fischer, Urs, El-Koussy, Marwan, Mas, Jean-Louis, Legrand, Laurence, Karayiannis, Christopher, Phan, Thanh, Gunkel, Sarah, Christ, Nicolas, Abrigo, Jill, Leung, Thomas, Chu, Winnie, Chappell, Francesca, Makin, Stephen, Hayden, Derek, Williams, David J, Mess, Werner H, Nederkoorn, Paul J, Barbato, Carmen, Browning, Simone, Wiegertjes, Kim, Tuladhar, Anil M, Maaijwee, Noortje, Guevarra, Anne Cristine, Yatawara, Chathuri, Mendyk, Anne-Marie, Delmaire, Christine, Köhler, Sebastian, van Oostenbrugge, Robert, Zhou, Ying, Xu, Chao, Hilal, Saima, Gyanwali, Bibek, Chen, Christopher, Lou, Min, Staals, Julie, Bordet, Régis, Kandiah, Nagaendran, de Leeuw, Frank-Erik, Simister, Robert, Hendrikse, Jeroen, Kelly, Peter J, Wardlaw, Joanna, Soo, Yannie, Fluri, Felix, Srikanth, Velandai, Calvet, David, Jung, Simon, Kwa, Vincent I H, Engelter, Stefan T, Peters, Nils, Smith, Eric E, Hara, Hideo, Yakushiji, Yusuke, Orken, Dilek Necioglu, Fazekas, Franz, Thijs, Vincent, Heo, Ji Hoe, Mok, Vincent, Veltkamp, Roland, Ay, Hakan, Imaizumi, Toshio, Gomez-Anson, Beatriz, Lau, Kui Kai, Jouvent, Eric, Rothwell, Peter M, Toyoda, Kazunori, Bae, Hee-Joon, Marti-Fabregas, Joan, and Werring, David J

Published
2021
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10. Retinal capillary microvessel morphology changes are associated with vascular damage and dysfunction in cerebral small vessel disease

Author

Wiseman, Stewart J, Zhang, Jun-Fang, Gray, Calum, Hamid, Charlene, Valdés Hernández, Maria del C, Ballerini, Lucia, Thrippleton, Michael J, Manning, Cameron, Stringer, Michael, Sleight, Emilie, Muñoz Maniega, Susana, Morgan, Alasdair, Cheng, Yajun, Arteaga, Carmen, Jaime Garcia, Dany, Clancy, Una, Doubal, Fergus N, Dhillon, Baljean, MacGillivray, Tom, Wu, Yun-Cheng, and Wardlaw, Joanna M

Published
2023
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12. An epigenetic predictor of death captures multi-modal measures of brain health

Author

Hillary, Robert F., Stevenson, Anna J., Cox, Simon R., McCartney, Daniel L., Harris, Sarah E., Seeboth, Anne, Higham, Jon, Sproul, Duncan, Taylor, Adele M., Redmond, Paul, Corley, Janie, Pattie, Alison, Hernández, Maria del. C. Valdés, Muñoz-Maniega, Susana, Bastin, Mark E., Wardlaw, Joanna M., Horvath, Steve, Ritchie, Craig W., Spires-Jones, Tara L., McIntosh, Andrew M., Evans, Kathryn L., Deary, Ian J., and Marioni, Riccardo E.

Published
2021
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13. Novel genetic loci associated with hippocampal volume.

Author

Hibar, Derrek P, Adams, Hieab HH, Jahanshad, Neda, Chauhan, Ganesh, Stein, Jason L, Hofer, Edith, Renteria, Miguel E, Bis, Joshua C, Arias-Vasquez, Alejandro, Ikram, M Kamran, Desrivières, Sylvane, Vernooij, Meike W, Abramovic, Lucija, Alhusaini, Saud, Amin, Najaf, Andersson, Micael, Arfanakis, Konstantinos, Aribisala, Benjamin S, Armstrong, Nicola J, Athanasiu, Lavinia, Axelsson, Tomas, Beecham, Ashley H, Beiser, Alexa, Bernard, Manon, Blanton, Susan H, Bohlken, Marc M, Boks, Marco P, Bralten, Janita, Brickman, Adam M, Carmichael, Owen, Chakravarty, M Mallar, Chen, Qiang, Ching, Christopher RK, Chouraki, Vincent, Cuellar-Partida, Gabriel, Crivello, Fabrice, Den Braber, Anouk, Doan, Nhat Trung, Ehrlich, Stefan, Giddaluru, Sudheer, Goldman, Aaron L, Gottesman, Rebecca F, Grimm, Oliver, Griswold, Michael E, Guadalupe, Tulio, Gutman, Boris A, Hass, Johanna, Haukvik, Unn K, Hoehn, David, Holmes, Avram J, Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Jørgensen, Kjetil N, Karbalai, Nazanin, Kasperaviciute, Dalia, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H, Liewald, David CM, Lopez, Lorna M, Luciano, Michelle, Macare, Christine, Marquand, Andre F, Matarin, Mar, Mather, Karen A, Mattheisen, Manuel, McKay, David R, Milaneschi, Yuri, Muñoz Maniega, Susana, Nho, Kwangsik, Nugent, Allison C, Nyquist, Paul, Loohuis, Loes M Olde, Oosterlaan, Jaap, Papmeyer, Martina, Pirpamer, Lukas, Pütz, Benno, Ramasamy, Adaikalavan, Richards, Jennifer S, Risacher, Shannon L, Roiz-Santiañez, Roberto, Rommelse, Nanda, Ropele, Stefan, Rose, Emma J, Royle, Natalie A, Rundek, Tatjana, Sämann, Philipp G, Saremi, Arvin, Satizabal, Claudia L, Schmaal, Lianne, Schork, Andrew J, Shen, Li, Shin, Jean, Shumskaya, Elena, Smith, Albert V, Sprooten, Emma, Strike, Lachlan T, and Teumer, Alexander

Subjects
Hippocampus, Humans, Alzheimer Disease, Genetic Predisposition to Disease, Protein-Serine-Threonine Kinases, Glycoproteins, Microtubule-Associated Proteins, Nerve Tissue Proteins, Organ Size, Cohort Studies, Adolescent, Adult, Aged, Aged, 80 and over, Middle Aged, Child, Female, Male, Genome-Wide Association Study, Young Adult, Methionine Sulfoxide Reductases, Genetic Loci, Dipeptidyl Peptidase 4, Human Genome, Aging, Brain Disorders, Clinical Research, Acquired Cognitive Impairment, Neurodegenerative, Dementia, Neurosciences, Prevention, Genetics, Alzheimer's Disease, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Mental Health, 2.1 Biological and endogenous factors, Mental health, Neurological
Abstract

The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer's disease (rg=-0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness.

Published
2017

14. General and specific patterns of cortical gene expression as spatial correlates of complex cognitive functioning

Author

Moodie, Joanna E., primary, Harris, Sarah E., additional, Harris, Mathew A., additional, Buchanan, Colin R., additional, Davies, Gail, additional, Taylor, Adele, additional, Redmond, Paul, additional, Liewald, David C. M., additional, Valdés Hernández, Maria del C., additional, Shenkin, Susan, additional, Russ, Tom C., additional, Muñoz Maniega, Susana, additional, Luciano, Michelle, additional, Corley, Janie, additional, Stolicyn, Aleks, additional, Shen, Xueyi, additional, Steele, Douglas, additional, Waiter, Gordon, additional, Sandu, Anca‐Larisa, additional, Bastin, Mark E., additional, Wardlaw, Joanna M., additional, McIntosh, Andrew, additional, Whalley, Heather, additional, Tucker‐Drob, Elliot M., additional, Deary, Ian J., additional, and Cox, Simon R., additional

Published
2024
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20. Cerebral microbleeds and stroke risk after ischaemic stroke or transient ischaemic attack: a pooled analysis of individual patient data from cohort studies

Author

Harkness, Kirsty, Shaw, Louise, Sword, Jane, Mohd Nor, Azlisham, Sharma, Pankaj, Kelly, Deborah, Harrington, Frances, Randall, Marc, Smith, Matthew, Mahawish, Karim, Elmarim, Abduelbaset, Esisi, Bernard, Cullen, Claire, Nallasivam, Arumug, Price, Christopher, Barry, Adrian, Roffe, Christine, Coyle, John, Hassan, Ahamad, Birns, Jonathan, Cohen, David, Sekaran, Lakshmanan, Parry-Jones, Adrian, Parry, Anthea, Hargroves, David, Proschel, Harald, Datta, Prabel, Darawil, Khaled, Manoj, Aravindakshan, Burn, Mathew, Patterson, Chris, Giallombardo, Elio, Smyth, Nigel, Mansoor, Syed, Anwar, Ijaz, Marsh, Rachel, Ispoglou, Sissi, Chadha, Dinesh, Prabhakaran, Mathuri, Meenakishundaram, Sanjeevikumar, O'Connell, Janice, Scott, Jon, Krishnamurthy, Vinodh, Aghoram, Prasanna, McCormick, Michael, Sprigg, Nikola, O'Mahony, Paul, Cooper, Martin, Choy, Lillian, Wilkinson, Peter, Leach, Simon, Caine, Sarah, Burger, Ilse, Gunathilagan, Gunaratam, Guyler, Paul, Emsley, Hedley, Davis, Michelle, Manawadu, Dulka, Pasco, Kath, Mamun, Maam, Luder, Robert, Sajid, Mahmud, Okwera, James, Warburton, Elizabeth, Saastamoinen, Kari, England, Timothy, Putterill, Janet, Flossman, Enrico, Power, Michael, Dani, Krishna, Mangion, David, Suman, Appu, Corrigan, John, Lawrence, Enas, Vahidassr, Djamil, Shakeshaft, Clare, Brown, Martin, Charidimou, Andreas, Cohen, Hannah, Banerjee, Gargi, Houlden, Henry, White, Mark, Yousry, Tarek, Flossmann, Enrico, Muir, Keith, El-Koussy, Marwan, Gratz, Pascal, Molad, Jeremy, Korczyn, Amos, Kliper, Efrat, Maeder, Philippe, Gass, Achim, Pachai, Chahin, Bracoub, Luc, Douste-Blazy, Marie-Yvonne, Fratacci, Marie Dominique, Vicaut, Eric, Sato, Shoichiro, Miwa, Kaori, Fujita, Kyohei, Ide, Toshihiro, Ma, Henry, Ly, John, Singhal, Shahoo, Chandra, Ronil, Slater, Lee-Anne, Soufan, Cathy, Moran, Christopher, Traenka, Christopher, Thilemann, Sebastian, Fladt, Joachim, Gensicke, Henrik, Bonati, Leo, Kim, Beom Joon, Han, Moon-Ku, Kang, Jihoon, Ko, Eunbin, Yang, Mi Hwa, Jang, Myung Suk, Murphy, Sean, Carty, Fiona, Akijian, Layan, Thornton, John, Schembri, Mark, Douven, Elles, Delgado-Mederos;, Raquel, Marín, Rebeca, Camps-Renom, Pol, Guisado-Alonso, Daniel, Nuñez, Fidel, Medrano-Martorell, Santiago, Merino, Elisa, Iida, Kotaro, Ikeda, Syuhei, Nishihara, Masashi, Irie, Hiroyuki, Demirelli, Derya Selcuk, Medanta, Jayesh Modi, Zerna, Charlotte, Hernández, Maria Valdés, Armitage, Paul, Heye, Anna, Muñoz-Maniega, Susana, Sakka, Eleni, Thrippleton, Michael, Dennis, Martin, Beigneux, Ysoline, Silva, Mauro, Venketasubramanian, Narayanaswamy, Ho, Shu Leung, Cheung, Raymond Tak Fai, Chan, Koon Ho, Teo, Kay Cheong, Hui, Edward, Kwan, Joseph Shiu Kwong, Chang, Richard, Tse, Man Yu, Hoi, Chu Peng, Chan, Chung Yan, Chan, Oi Ling, Cheung, Ryan Hoi Kit, Wong, Edmund Ka Ming, Leung, Kam Tat, Tsang, Suk Fung, Ip, Hing Lung, Ma, Sze Ho, Ma, Karen, Fong, Wing Chi, Li, Siu Hung, Li, Richard, Ng, Ping Wing, Wong, Kwok Kui, Liu, Wenyan, Wong, Lawrence, Ramos, Lino, De Schryver, Els, Jöbsis, Joost, van der Sande, Jaap, Brouwers, Paul, Roos, Yvo, Stam, Jan, Bakker, Stef, Verbiest, Henk, Schoonewille, Wouter, Linn, Cisca, Hertzberger, Leopold, van Gemert, Maarten, Berntsen, Paul, Hendrikse, Jeroen, Nederkoorn, Paul, Mess, Werner, Koudstaal, Peter, Leff, Alexander, Ward, Nicholas, Nachev, Parashkev, Perry, Richard, Ozkan, Hatice, Mitchell, John, Wilson, Duncan, Ambler, Gareth, Lee, Keon-Joo, Lim, Jae-Sung, Shiozawa, Masayuki, Koga, Masatoshi, Li, Linxin, Lovelock, Caroline, Chabriat, Hugues, Hennerici, Michael, Wong, Yuen Kwun, Mak, Henry Ka Fung, Prats-Sánchez, Luis, Martínez-Domeño, Alejandro, Inamura, Shigeru, Yoshifuji, Kazuhisa, Arsava, Ethem Murat, Horstmann, Solveig, Purrucker, Jan, Lam, Bonnie Yin Ka, Wong, Adrian, Kim, Young Dae, Song, Tae-Jin, Schrooten, Maarten, Lemmens, Robin, Eppinger, Sebastian, Gattringer, Thomas, Uysal, Ender, Tanriverdi, Zeynep, Bornstein, Natan M, Assayag, Einor Ben, Hallevi, Hen, Tanaka, Jun, Hara, Hideo, Coutts, Shelagh B, Hert, Lisa, Polymeris, Alexandros, Seiffge, David J, Lyrer, Philippe, Algra, Ale, Kappelle, Jaap, Al-Shahi Salman, Rustam, Jäger, Hans R, Lip, Gregory Y H, Mattle, Heinrich P, Panos, Leonidas D, Mas, Jean-Louis, Legrand, Laurence, Karayiannis, Christopher, Phan, Thanh, Gunkel, Sarah, Christ, Nicolas, Abrigo, Jill, Leung, Thomas, Chu, Winnie, Chappell, Francesca, Makin, Stephen, Hayden, Derek, Williams, David J, Kooi, M Eline, van Dam-Nolen, Dianne H K, Barbato, Carmen, Browning, Simone, Wiegertjes, Kim, Tuladhar, Anil M, Maaijwee, Noortje, Guevarra, Christine, Yatawara, Chathuri, Mendyk, Anne-Marie, Delmaire, Christine, Köhler, Sebastian, van Oostenbrugge, Robert, Zhou, Ying, Xu, Chao, Hilal, Saima, Gyanwali, Bibek, Chen, Christopher, Lou, Min, Staals, Julie, Bordet, Régis, Kandiah, Nagaendran, de Leeuw, Frank-Erik, Simister, Robert, van der Lugt, Aad, Kelly, Peter J, Wardlaw, Joanna M, Soo, Yannie, Fluri, Felix, Srikanth, Velandai, Calvet, David, Jung, Simon, Kwa, Vincent I H, Engelter, Stefan T, Peters, Nils, Smith, Eric E, Yakushiji, Yusuke, Orken, Dilek Necioglu, Fazekas, Franz, Thijs, Vincent, Heo, Ji Hoe, Mok, Vincent, Veltkamp, Roland, Ay, Hakan, Imaizumi, Toshio, Gomez-Anson, Beatriz, Lau, Kui Kai, Jouvent, Eric, Rothwell, Peter M, Toyoda, Kazunori, Bae, Hee-Joon, Marti-Fabregas, Joan, and Werring, David J

Published
2019
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21. Magnetic Resonance Imaging Tissue Signatures Associated With White Matter Changes Due to Sporadic Cerebral Small Vessel Disease Indicate That White Matter Hyperintensities Can Regress

Author

Jochems, Angela C. C., primary, Muñoz Maniega, Susana, additional, Clancy, Una, additional, Arteaga, Carmen, additional, Jaime Garcia, Daniela, additional, Chappell, Francesca M., additional, Hewins, Will, additional, Locherty, Rachel, additional, Backhouse, Ellen V., additional, Barclay, Gayle, additional, Jardine, Charlotte, additional, McIntyre, Donna, additional, Gerrish, Iona, additional, Kampaite, Agniete, additional, Sakka, Eleni, additional, Valdés Hernández, Maria, additional, Wiseman, Stewart, additional, Bastin, Mark E., additional, Stringer, Michael S., additional, Thrippleton, Michael J., additional, Doubal, Fergus N., additional, and Wardlaw, Joanna M., additional

Published
2024
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22. Impact of long-term white matter hyperintensity changes on mobility and dexterity

Author

Jochems, Angela C C, primary, Muñoz Maniega, Susana, additional, Chappell, Francesca M, additional, Clancy, Una, additional, Arteaga, Carmen, additional, Jaime Garcia, Daniela, additional, Hamilton, Olivia K L, additional, Hewins, Will, additional, Locherty, Rachel, additional, Backhouse, Ellen V, additional, Barclay, Gayle, additional, Jardine, Charlotte, additional, McIntyre, Donna, additional, Gerrish, Iona, additional, Cheng, Yajun, additional, Liu, Xiaodi, additional, Zhang, Junfang, additional, Kampaite, Agniete, additional, Sakka, Eleni, additional, Valdés Hernández, Maria, additional, Wiseman, Stewart, additional, Stringer, Michael S, additional, Thrippleton, Michael J, additional, Doubal, Fergus N, additional, and Wardlaw, Joanna M, additional

Published
2024
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26. Improved Reference Tracts for Unsupervised Brain White Matter Tractography

Author

Muñoz Maniega, Susana, Bastin, Mark E., Deary, Ian J., Wardlaw, Joanna M., Clayden, Jonathan D., Diniz Junqueira Barbosa, Simone, Series editor, Chen, Phoebe, Series editor, Du, Xiaoyong, Series editor, Filipe, Joaquim, Series editor, Kara, Orhun, Series editor, Kotenko, Igor, Series editor, Liu, Ting, Series editor, Sivalingam, Krishna M., Series editor, Washio, Takashi, Series editor, Valdés Hernández, María, editor, and González-Castro, Víctor, editor

Published
2017
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33. Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease

Author

Duperron, Marie Gabrielle, Knol, Maria J., Le Grand, Quentin, Evans, Tavia E., Mishra, Aniket, Tsuchida, Ami, Roshchupkin, Gennady, Konuma, Takahiro, Trégouët, David Alexandre, Romero, Jose Rafael, Frenzel, Stefan, Luciano, Michelle, Hofer, Edith, Bourgey, Mathieu, Dueker, Nicole D., Delgado, Pilar, Hilal, Saima, Tankard, Rick M., Dubost, Florian, Shin, Jean, Saba, Yasaman, Armstrong, Nicola J., Bordes, Constance, Bastin, Mark E., Beiser, Alexa, Brodaty, Henry, Bülow, Robin, Carrera, Caty, Chen, Christopher, Cheng, Ching Yu, Deary, Ian J., Gampawar, Piyush G., Himali, Jayandra J., Jiang, Jiyang, Kawaguchi, Takahisa, Li, Shuo, Macalli, Melissa, Marquis, Pascale, Morris, Zoe, Muñoz Maniega, Susana, Miyamoto, Susumu, Okawa, Masakazu, Paradise, Matthew, Parva, Pedram, Teumer, Alexander, Vernooij, Meike W., Wong, Tien Yin, Schmidt, Helena, Ikram, M. Arfan, Adams, Hieab H.H., Duperron, Marie Gabrielle, Knol, Maria J., Le Grand, Quentin, Evans, Tavia E., Mishra, Aniket, Tsuchida, Ami, Roshchupkin, Gennady, Konuma, Takahiro, Trégouët, David Alexandre, Romero, Jose Rafael, Frenzel, Stefan, Luciano, Michelle, Hofer, Edith, Bourgey, Mathieu, Dueker, Nicole D., Delgado, Pilar, Hilal, Saima, Tankard, Rick M., Dubost, Florian, Shin, Jean, Saba, Yasaman, Armstrong, Nicola J., Bordes, Constance, Bastin, Mark E., Beiser, Alexa, Brodaty, Henry, Bülow, Robin, Carrera, Caty, Chen, Christopher, Cheng, Ching Yu, Deary, Ian J., Gampawar, Piyush G., Himali, Jayandra J., Jiang, Jiyang, Kawaguchi, Takahisa, Li, Shuo, Macalli, Melissa, Marquis, Pascale, Morris, Zoe, Muñoz Maniega, Susana, Miyamoto, Susumu, Okawa, Masakazu, Paradise, Matthew, Parva, Pedram, Teumer, Alexander, Vernooij, Meike W., Wong, Tien Yin, Schmidt, Helena, Ikram, M. Arfan, and Adams, Hieab H.H.

Abstract

Perivascular space (PVS) burden is an emerging, poorly understood, magnetic resonance imaging marker of cerebral small vessel disease, a leading cause of stroke and dementia. Genome-wide association studies in up to 40,095 participants (18 population-based cohorts, 66.3 ± 8.6 yr, 96.9% European ancestry) revealed 24 genome-wide significant PVS risk loci, mainly in the white matter. These were associated with white matter PVS already in young adults (N = 1,748; 22.1 ± 2.3 yr) and were enriched in early-onset leukodystrophy genes and genes expressed in fetal brain endothelial cells, suggesting early-life mechanisms. In total, 53% of white matter PVS risk loci showed nominally significant associations (27% after multiple-testing correction) in a Japanese population-based cohort (N = 2,862; 68.3 ± 5.3 yr). Mendelian randomization supported causal associations of high blood pressure with basal ganglia and hippocampal PVS, and of basal ganglia PVS and hippocampal PVS with stroke, accounting for blood pressure. Our findings provide insight into the biology of PVS and cerebral small vessel disease, pointing to pathways involving extracellular matrix, membrane transport and developmental processes, and the potential for genetically informed prioritization of drug targets.

Published
2023

36. Brain cortical characteristics of lifetime cognitive ageing

Author

Cox, Simon R., Bastin, Mark E., Ritchie, Stuart J., Dickie, David Alexander, Liewald, Dave C., Muñoz Maniega, Susana, Redmond, Paul, Royle, Natalie A., Pattie, Alison, Valdés Hernández, Maria, Corley, Janie, Aribisala, Benjamin S., McIntosh, Andrew M., Wardlaw, Joanna M., and Deary, Ian J.

Published
2017
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38. sj-pdf-1-jcb-10.1177_0271678X221135658 - Supplemental material for Retinal capillary microvessel morphology changes are associated with vascular damage and dysfunction in cerebral small vessel disease

Author

Wiseman, Stewart J, Zhang, Jun-Fang, Gray, Calum, Hamid, Charlene, Valdés Hernández, Maria del C, Ballerini, Lucia, Thrippleton, Michael J, Manning, Cameron, Stringer, Michael, Sleight, Emilie, Muñoz Maniega, Susana, Morgan, Alasdair, Cheng, Yajun, Arteaga, Carmen, Jaime Garcia, Dany, Clancy, Una, Doubal, Fergus N, Dhillon, Baljean, MacGillivray, Tom, Wu, Yun-Cheng, and Wardlaw, Joanna M

Subjects
110320 Radiology and Organ Imaging, FOS: Clinical medicine, FOS: Biological sciences, Medicine, Cell Biology, 110305 Emergency Medicine, 110306 Endocrinology, Biochemistry, 69999 Biological Sciences not elsewhere classified, 110904 Neurology and Neuromuscular Diseases, Neuroscience
Abstract

Supplemental material, sj-pdf-1-jcb-10.1177_0271678X221135658 for Retinal capillary microvessel morphology changes are associated with vascular damage and dysfunction in cerebral small vessel disease by Stewart J Wiseman, Jun-Fang Zhang, Calum Gray, Charlene Hamid, Maria del C Valdés Hernández, Lucia Ballerini, Michael J Thrippleton, Cameron Manning, Michael Stringer, Emilie Sleight, Susana Muñoz Maniega, Alasdair Morgan, Yajun Cheng, Carmen Arteaga, Dany Jaime Garcia, Una Clancy, Fergus N Doubal, Baljean Dhillon, Tom MacGillivray, Yun-Cheng Wu and Joanna M Wardlaw in Journal of Cerebral Blood Flow & Metabolism

Published
2023
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40. Retinal capillary microvessel morphology changes are associated with vascular damage and dysfunction in cerebral small vessel disease

Author

Wiseman, Stewart J, primary, Zhang, Jun-Fang, additional, Gray, Calum, additional, Hamid, Charlene, additional, Valdés Hernández, Maria del C, additional, Ballerini, Lucia, additional, Thrippleton, Michael J, additional, Manning, Cameron, additional, Stringer, Michael, additional, Sleight, Emilie, additional, Muñoz Maniega, Susana, additional, Morgan, Alasdair, additional, Cheng, Yajun, additional, Arteaga, Carmen, additional, Jaime Garcia, Dany, additional, Clancy, Una, additional, Doubal, Fergus N, additional, Dhillon, Baljean, additional, MacGillivray, Tom, additional, Wu, Yun-Cheng, additional, and Wardlaw, Joanna M, additional

Published
2022
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43. Associations of Peak-Width Skeletonized Mean Diffusivity and Post-Stroke Cognition

Author

Jochems, Angela C. C., primary, Muñoz Maniega, Susana, additional, Clancy, Una, additional, Jaime Garcia, Daniela, additional, Arteaga, Carmen, additional, Hewins, Will, additional, Penman, Rachel, additional, Hamilton, Olivia K. L., additional, Czechoń, Agnieszka, additional, Backhouse, Ellen V., additional, Thrippleton, Michael J., additional, Stringer, Michael S., additional, Bastin, Mark. E., additional, Valdés Hernández, Maria del C., additional, Wiseman, Stewart, additional, Chappell, Francesca M., additional, Doubal, Fergus N., additional, and Wardlaw, Joanna M., additional

Published
2022
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44. Topological relationships between perivascular spaces and progression of white matter hyperintensities: A pilot study in a sample of the Lothian Birth Cohort 1936

Author

Barnes, Abbie, primary, Ballerini, Lucia, additional, Valdés Hernández, Maria del C., additional, Chappell, Francesca M., additional, Muñoz Maniega, Susana, additional, Meijboom, Rozanna, additional, Backhouse, Ellen V., additional, Stringer, Michael S., additional, Duarte Coello, Roberto, additional, Brown, Rosalind, additional, Bastin, Mark E., additional, Cox, Simon R., additional, Deary, Ian J., additional, and Wardlaw, Joanna M., additional

Published
2022
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45. Gene-mapping study of extremes of cerebral small vessel disease reveals TRIM47 as a strong candidate.

Author

Mishra, Aniket, Mishra, Aniket, Duplaà, Cécile, Vojinovic, Dina, Suzuki, Hideaki, Sargurupremraj, Muralidharan, Zilhão, Nuno R, Li, Shuo, Bartz, Traci M, Jian, Xueqiu, Zhao, Wei, Hofer, Edith, Wittfeld, Katharina, Harris, Sarah E, van der Auwera-Palitschka, Sandra, Luciano, Michelle, Bis, Joshua C, Adams, Hieab HH, Satizabal, Claudia L, Gottesman, Rebecca F, Gampawar, Piyush G, Bülow, Robin, Weiss, Stefan, Yu, Miao, Bastin, Mark E, Lopez, Oscar L, Vernooij, Meike W, Beiser, Alexa S, Völker, Uwe, Kacprowski, Tim, Soumare, Aicha, Smith, Jennifer A, Knopman, David S, Morris, Zoe, Zhu, Yicheng, Rotter, Jerome I, Dufouil, Carole, Valdés Hernández, Maria, Muñoz Maniega, Susana, Lathrop, Mark, Boerwinkle, Erik, Schmidt, Reinhold, Ihara, Masafumi, Mazoyer, Bernard, Yang, Qiong, Joutel, Anne, Tournier-Lasserve, Elizabeth, Launer, Lenore J, Deary, Ian J, Mosley, Thomas H, Amouyel, Philippe, DeCarli, Charles S, Psaty, Bruce M, Tzourio, Christophe, Kardia, Sharon LR, Grabe, Hans J, Teumer, Alexander, van Duijn, Cornelia M, Schmidt, Helena, Wardlaw, Joanna M, Ikram, M Arfan, Fornage, Myriam, Gudnason, Vilmundur, Seshadri, Sudha, Matthews, Paul M, Longstreth, William T, Couffinhal, Thierry, Debette, Stephanie, Mishra, Aniket, Mishra, Aniket, Duplaà, Cécile, Vojinovic, Dina, Suzuki, Hideaki, Sargurupremraj, Muralidharan, Zilhão, Nuno R, Li, Shuo, Bartz, Traci M, Jian, Xueqiu, Zhao, Wei, Hofer, Edith, Wittfeld, Katharina, Harris, Sarah E, van der Auwera-Palitschka, Sandra, Luciano, Michelle, Bis, Joshua C, Adams, Hieab HH, Satizabal, Claudia L, Gottesman, Rebecca F, Gampawar, Piyush G, Bülow, Robin, Weiss, Stefan, Yu, Miao, Bastin, Mark E, Lopez, Oscar L, Vernooij, Meike W, Beiser, Alexa S, Völker, Uwe, Kacprowski, Tim, Soumare, Aicha, Smith, Jennifer A, Knopman, David S, Morris, Zoe, Zhu, Yicheng, Rotter, Jerome I, Dufouil, Carole, Valdés Hernández, Maria, Muñoz Maniega, Susana, Lathrop, Mark, Boerwinkle, Erik, Schmidt, Reinhold, Ihara, Masafumi, Mazoyer, Bernard, Yang, Qiong, Joutel, Anne, Tournier-Lasserve, Elizabeth, Launer, Lenore J, Deary, Ian J, Mosley, Thomas H, Amouyel, Philippe, DeCarli, Charles S, Psaty, Bruce M, Tzourio, Christophe, Kardia, Sharon LR, Grabe, Hans J, Teumer, Alexander, van Duijn, Cornelia M, Schmidt, Helena, Wardlaw, Joanna M, Ikram, M Arfan, Fornage, Myriam, Gudnason, Vilmundur, Seshadri, Sudha, Matthews, Paul M, Longstreth, William T, Couffinhal, Thierry, and Debette, Stephanie

Abstract

Cerebral small vessel disease is a leading cause of stroke and a major contributor to cognitive decline and dementia, but our understanding of specific genes underlying the cause of sporadic cerebral small vessel disease is limited. We report a genome-wide association study and a whole-exome association study on a composite extreme phenotype of cerebral small vessel disease derived from its most common MRI features: white matter hyperintensities and lacunes. Seventeen population-based cohorts of older persons with MRI measurements and genome-wide genotyping (n = 41 326), whole-exome sequencing (n = 15 965), or exome chip (n = 5249) data contributed 13 776 and 7079 extreme small vessel disease samples for the genome-wide association study and whole-exome association study, respectively. The genome-wide association study identified significant association of common variants in 11 loci with extreme small vessel disease, of which the chr12q24.11 locus was not previously reported to be associated with any MRI marker of cerebral small vessel disease. The whole-exome association study identified significant associations of extreme small vessel disease with common variants in the 5' UTR region of EFEMP1 (chr2p16.1) and one probably damaging common missense variant in TRIM47 (chr17q25.1). Mendelian randomization supports the causal association of extensive small vessel disease severity with increased risk of stroke and Alzheimer's disease. Combined evidence from summary-based Mendelian randomization studies and profiling of human loss-of-function allele carriers showed an inverse relation between TRIM47 expression in the brain and blood vessels and extensive small vessel disease severity. We observed significant enrichment of Trim47 in isolated brain vessel preparations compared to total brain fraction in mice, in line with the literature showing Trim47 enrichment in brain endothelial cells at single cell level. Functional evaluation of TRIM47 by small interfering RNAs-media

Published
2022

46. Gene-mapping study of extremes of cerebral small vessel disease reveals TRIM47 as a strong candidate

Author

Mishra, Aniket, primary, Duplaà, Cécile, additional, Vojinovic, Dina, additional, Suzuki, Hideaki, additional, Sargurupremraj, Muralidharan, additional, Zilhão, Nuno R, additional, Li, Shuo, additional, Bartz, Traci M, additional, Jian, Xueqiu, additional, Zhao, Wei, additional, Hofer, Edith, additional, Wittfeld, Katharina, additional, Harris, Sarah E, additional, van der Auwera-Palitschka, Sandra, additional, Luciano, Michelle, additional, Bis, Joshua C, additional, Adams, Hieab H H, additional, Satizabal, Claudia L, additional, Gottesman, Rebecca F, additional, Gampawar, Piyush G, additional, Bülow, Robin, additional, Weiss, Stefan, additional, Yu, Miao, additional, Bastin, Mark E, additional, Lopez, Oscar L, additional, Vernooij, Meike W, additional, Beiser, Alexa S, additional, Völker, Uwe, additional, Kacprowski, Tim, additional, Soumare, Aicha, additional, Smith, Jennifer A, additional, Knopman, David S, additional, Morris, Zoe, additional, Zhu, Yicheng, additional, Rotter, Jerome I, additional, Dufouil, Carole, additional, Valdés Hernández, Maria, additional, Muñoz Maniega, Susana, additional, Lathrop, Mark, additional, Boerwinkle, Erik, additional, Schmidt, Reinhold, additional, Ihara, Masafumi, additional, Mazoyer, Bernard, additional, Yang, Qiong, additional, Joutel, Anne, additional, Tournier-Lasserve, Elizabeth, additional, Launer, Lenore J, additional, Deary, Ian J, additional, Mosley, Thomas H, additional, Amouyel, Philippe, additional, DeCarli, Charles S, additional, Psaty, Bruce M, additional, Tzourio, Christophe, additional, Kardia, Sharon L R, additional, Grabe, Hans J, additional, Teumer, Alexander, additional, van Duijn, Cornelia M, additional, Schmidt, Helena, additional, Wardlaw, Joanna M, additional, Ikram, M Arfan, additional, Fornage, Myriam, additional, Gudnason, Vilmundur, additional, Seshadri, Sudha, additional, Matthews, Paul M, additional, Longstreth, William T, additional, Couffinhal, Thierry, additional, and Debette, Stephanie, additional

Published
2022
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48. The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

Author

Thompson, Paul M., Stein, Jason L., Medland, Sarah E., Hibar, Derrek P., Vasquez, Alejandro Arias, Renteria, Miguel E., Toro, Roberto, Jahanshad, Neda, Schumann, Gunter, Franke, Barbara, Wright, Margaret J., Martin, Nicholas G., Agartz, Ingrid, Alda, Martin, Alhusaini, Saud, Almasy, Laura, Almeida, Jorge, Alpert, Kathryn, Andreasen, Nancy C., Andreassen, Ole A., Apostolova, Liana G., Appel, Katja, Armstrong, Nicola J., Aribisala, Benjamin, Bastin, Mark E., Bauer, Michael, Bearden, Carrie E., Bergmann, Ørjan, Binder, Elisabeth B., Blangero, John, Bockholt, Henry J., Bøen, Erlend, Bois, Catherine, Boomsma, Dorret I., Booth, Tom, Bowman, Ian J., Bralten, Janita, Brouwer, Rachel M., Brunner, Han G., Brohawn, David G., Buckner, Randy L., Buitelaar, Jan, Bulayeva, Kazima, Bustillo, Juan R., Calhoun, Vince D., Cannon, Dara M., Cantor, Rita M., Carless, Melanie A., Caseras, Xavier, Cavalleri, Gianpiero L., Chakravarty, M. Mallar, Chang, Kiki D., Ching, Christopher R. K., Christoforou, Andrea, Cichon, Sven, Clark, Vincent P., Conrod, Patricia, Coppola, Giovanni, Crespo-Facorro, Benedicto, Curran, Joanne E., Czisch, Michael, Deary, Ian J., de Geus, Eco J. C., den Braber, Anouk, Delvecchio, Giuseppe, Depondt, Chantal, de Haan, Lieuwe, de Zubicaray, Greig I., Dima, Danai, Dimitrova, Rali, Djurovic, Srdjan, Dong, Hongwei, Donohoe, Gary, Duggirala, Ravindranath, Dyer, Thomas D., Ehrlich, Stefan, Ekman, Carl Johan, Elvsåshagen, Torbjørn, Emsell, Louise, Erk, Susanne, Espeseth, Thomas, Fagerness, Jesen, Fears, Scott, Fedko, Iryna, Fernández, Guillén, Fisher, Simon E., Foroud, Tatiana, Fox, Peter T., Francks, Clyde, Frangou, Sophia, Frey, Eva Maria, Frodl, Thomas, Frouin, Vincent, Garavan, Hugh, Giddaluru, Sudheer, Glahn, David C., Godlewska, Beata, Goldstein, Rita Z., Gollub, Randy L., Grabe, Hans J., Grimm, Oliver, Gruber, Oliver, Guadalupe, Tulio, Gur, Raquel E., Gur, Ruben C., Göring, Harald H. H., Hagenaars, Saskia, Hajek, Tomas, Hall, Geoffrey B., Hall, Jeremy, Hardy, John, Hartman, Catharina A., Hass, Johanna, Hatton, Sean N., Haukvik, Unn K., Hegenscheid, Katrin, Heinz, Andreas, Hickie, Ian B., Ho, Beng-Choon, Hoehn, David, Hoekstra, Pieter J., Hollinshead, Marisa, Holmes, Avram J., Homuth, Georg, Hoogman, Martine, Hong, L. Elliot, Hosten, Norbert, Hottenga, Jouke-Jan, Hulshoff Pol, Hilleke E., Hwang, Kristy S., Jack, Jr, Clifford R., Jenkinson, Mark, Johnston, Caroline, Jönsson, Erik G., Kahn, René S., Kasperaviciute, Dalia, Kelly, Sinead, Kim, Sungeun, Kochunov, Peter, Koenders, Laura, Krämer, Bernd, Kwok, John B. J., Lagopoulos, Jim, Laje, Gonzalo, Landen, Mikael, Landman, Bennett A., Lauriello, John, Lawrie, Stephen M., Lee, Phil H., Le Hellard, Stephanie, Lemaître, Herve, Leonardo, Cassandra D., Li, Chiang-shan, Liberg, Benny, Liewald, David C., Liu, Xinmin, Lopez, Lorna M., Loth, Eva, Lourdusamy, Anbarasu, Luciano, Michelle, Macciardi, Fabio, Machielsen, Marise W. J., MacQueen, Glenda M., Malt, Ulrik F., Mandl, René, Manoach, Dara S., Martinot, Jean-Luc, Matarin, Mar, Mather, Karen A., Mattheisen, Manuel, Mattingsdal, Morten, Meyer-Lindenberg, Andreas, McDonald, Colm, McIntosh, Andrew M., McMahon, Francis J., McMahon, Katie L., Meisenzahl, Eva, Melle, Ingrid, Milaneschi, Yuri, Mohnke, Sebastian, Montgomery, Grant W., Morris, Derek W., Moses, Eric K., Mueller, Bryon A., Muñoz Maniega, Susana, Mühleisen, Thomas W., Müller-Myhsok, Bertram, Mwangi, Benson, Nauck, Matthias, Nho, Kwangsik, Nichols, Thomas E., Nilsson, Lars-Göran, Nugent, Allison C., Nyberg, Lars, Olvera, Rene L., Oosterlaan, Jaap, Ophoff, Roel A., Pandolfo, Massimo, Papalampropoulou-Tsiridou, Melina, Papmeyer, Martina, Paus, Tomas, Pausova, Zdenka, Pearlson, Godfrey D., Penninx, Brenda W., Peterson, Charles P., Pfennig, Andrea, Phillips, Mary, Pike, G. 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2014
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