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1. Genetic variants for head size share genes and pathways with cancer

Author

Knol, Maria J, Poot, Raymond A, Evans, Tavia E, Satizabal, Claudia L, Mishra, Aniket, Sargurupremraj, Muralidharan, van der Auwera, Sandra, Duperron, Marie-Gabrielle, Jian, Xueqiu, Hostettler, Isabel C, van Dam-Nolen, Dianne HK, Lamballais, Sander, Pawlak, Mikolaj A, Lewis, Cora E, Carrion-Castillo, Amaia, van Erp, Theo GM, Reinbold, Céline S, Shin, Jean, Scholz, Markus, Håberg, Asta K, Kämpe, Anders, Li, Gloria HY, Avinun, Reut, Atkins, Joshua R, Hsu, Fang-Chi, Amod, Alyssa R, Lam, Max, Tsuchida, Ami, Teunissen, Mariël WA, Aygün, Nil, Patel, Yash, Liang, Dan, Beiser, Alexa S, Beyer, Frauke, Bis, Joshua C, Bos, Daniel, Bryan, R Nick, Bülow, Robin, Caspers, Svenja, Catheline, Gwenaëlle, Cecil, Charlotte AM, Dalvie, Shareefa, Dartigues, Jean-François, DeCarli, Charles, Enlund-Cerullo, Maria, Ford, Judith M, Franke, Barbara, Freedman, Barry I, Friedrich, Nele, Green, Melissa J, Haworth, Simon, Helmer, Catherine, Hoffmann, Per, Homuth, Georg, Ikram, M Kamran, Jack, Clifford R, Jahanshad, Neda, Jockwitz, Christiane, Kamatani, Yoichiro, Knodt, Annchen R, Li, Shuo, Lim, Keane, Longstreth, WT, Macciardi, Fabio, Consortium, The Cohorts for Heart and Aging Research in Genomic Epidemiology, Amouyel, Philippe, Arfanakis, Konstantinos, Aribisala, Benjamin S, Bastin, Mark E, Chauhan, Ganesh, Chen, Christopher, Cheng, Ching-Yu, de Jager, Philip L, Deary, Ian J, Fleischman, Debra A, Gottesman, Rebecca F, Gudnason, Vilmundur, Hilal, Saima, Hofer, Edith, Janowitz, Deborah, Jukema, J Wouter, Liewald, David CM, Lopez, Lorna M, Lopez, Oscar, Luciano, Michelle, Martinez, Oliver, Niessen, Wiro J, Nyquist, Paul, Rotter, Jerome I, Rundek, Tatjana, Sacco, Ralph L, Schmidt, Helena, Tiemeier, Henning, Trompet, Stella, van der Grond, Jeroen, Völzke, Henry, Wardlaw, Joanna M, Yanek, Lisa, Yang, Jingyun, and Consortium, The Enhancing NeuroImaging Genetics through Meta-Analysis

Subjects
Biomedical and Clinical Sciences, Neurosciences, Biotechnology, Genetics, Cancer, Stem Cell Research, Human Genome, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Neurological, Humans, Genome-Wide Association Study, Head, Neoplasms, Female, Male, Polymorphism, Single Nucleotide, Genetic Variation, Organ Size, Signal Transduction, Adult, Genetic Predisposition to Disease, Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium, Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium, cancer, genetics, genome-wide association study, head circumference, head size, intracranial volume, meta-analysis, Biomedical and clinical sciences
Abstract

The size of the human head is highly heritable, but genetic drivers of its variation within the general population remain unmapped. We perform a genome-wide association study on head size (N = 80,890) and identify 67 genetic loci, of which 50 are novel. Neuroimaging studies show that 17 variants affect specific brain areas, but most have widespread effects. Gene set enrichment is observed for various cancers and the p53, Wnt, and ErbB signaling pathways. Genes harboring lead variants are enriched for macrocephaly syndrome genes (37-fold) and high-fidelity cancer genes (9-fold), which is not seen for human height variants. Head size variants are also near genes preferentially expressed in intermediate progenitor cells, neural cells linked to evolutionary brain expansion. Our results indicate that genes regulating early brain and cranial growth incline to neoplasia later in life, irrespective of height. This warrants investigation of clinical implications of the link between head size and cancer.

Published
2024

3. 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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5. Genetic architecture of subcortical brain structures in 38,851 individuals

Author

Satizabal, Claudia L, Adams, Hieab HH, Hibar, Derrek P, White, Charles C, Knol, Maria J, Stein, Jason L, Scholz, Markus, Sargurupremraj, Muralidharan, Jahanshad, Neda, Roshchupkin, Gennady V, Smith, Albert V, Bis, Joshua C, Jian, Xueqiu, Luciano, Michelle, Hofer, Edith, Teumer, Alexander, van der Lee, Sven J, Yang, Jingyun, Yanek, Lisa R, Lee, Tom V, Li, Shuo, Hu, Yanhui, Koh, Jia Yu, Eicher, John D, Desrivières, Sylvane, Arias-Vasquez, Alejandro, Chauhan, Ganesh, Athanasiu, Lavinia, Rentería, Miguel E, Kim, Sungeun, Hoehn, David, Armstrong, Nicola J, Chen, Qiang, Holmes, Avram J, den Braber, Anouk, Kloszewska, Iwona, Andersson, Micael, Espeseth, Thomas, Grimm, Oliver, Abramovic, Lucija, Alhusaini, Saud, Milaneschi, Yuri, Papmeyer, Martina, Axelsson, Tomas, Ehrlich, Stefan, Roiz-Santiañez, Roberto, Kraemer, Bernd, Håberg, Asta K, Jones, Hannah J, Pike, G Bruce, Stein, Dan J, Stevens, Allison, Bralten, Janita, Vernooij, Meike W, Harris, Tamara B, Filippi, Irina, Witte, A Veronica, Guadalupe, Tulio, Wittfeld, Katharina, Mosley, Thomas H, Becker, James T, Doan, Nhat Trung, Hagenaars, Saskia P, Saba, Yasaman, Cuellar-Partida, Gabriel, Amin, Najaf, Hilal, Saima, Nho, Kwangsik, Mirza-Schreiber, Nazanin, Arfanakis, Konstantinos, Becker, Diane M, Ames, David, Goldman, Aaron L, Lee, Phil H, Boomsma, Dorret I, Lovestone, Simon, Giddaluru, Sudheer, Le Hellard, Stephanie, Mattheisen, Manuel, Bohlken, Marc M, Kasperaviciute, Dalia, Schmaal, Lianne, Lawrie, Stephen M, Agartz, Ingrid, Walton, Esther, Tordesillas-Gutierrez, Diana, Davies, Gareth E, Shin, Jean, Ipser, Jonathan C, Vinke, Louis N, Hoogman, Martine, Jia, Tianye, Burkhardt, Ralph, Klein, Marieke, Crivello, Fabrice, Janowitz, Deborah, Carmichael, Owen, Haukvik, Unn K, Aribisala, Benjamin S, and Schmidt, Helena

Subjects
Biological Sciences, Genetics, Brain Disorders, Mental Health, Neurosciences, Human Genome, 2.1 Biological and endogenous factors, Neurological, Adult, Aged, Animals, Brain, Cohort Studies, Drosophila melanogaster, Genetic Variation, Genome-Wide Association Study, Humans, Magnetic Resonance Imaging, Middle Aged, Neurodevelopmental Disorders, Organ Size, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Subcortical brain structures are integral to motion, consciousness, emotions and learning. We identified common genetic variation related to the volumes of the nucleus accumbens, amygdala, brainstem, caudate nucleus, globus pallidus, putamen and thalamus, using genome-wide association analyses in almost 40,000 individuals from CHARGE, ENIGMA and UK Biobank. We show that variability in subcortical volumes is heritable, and identify 48 significantly associated loci (40 novel at the time of analysis). Annotation of these loci by utilizing gene expression, methylation and neuropathological data identified 199 genes putatively implicated in neurodevelopment, synaptic signaling, axonal transport, apoptosis, inflammation/infection and susceptibility to neurological disorders. This set of genes is significantly enriched for Drosophila orthologs associated with neurodevelopmental phenotypes, suggesting evolutionarily conserved mechanisms. Our findings uncover novel biology and potential drug targets underlying brain development and disease.

Published
2019

6. Human subcortical brain asymmetries in 15,847 people worldwide reveal effects of age and sex.

Author

Guadalupe, Tulio, Mathias, Samuel R, vanErp, Theo GM, Whelan, Christopher D, Zwiers, Marcel P, Abe, Yoshinari, Abramovic, Lucija, Agartz, Ingrid, Andreassen, Ole A, Arias-Vásquez, Alejandro, Aribisala, Benjamin S, Armstrong, Nicola J, Arolt, Volker, Artiges, Eric, Ayesa-Arriola, Rosa, Baboyan, Vatche G, Banaschewski, Tobias, Barker, Gareth, Bastin, Mark E, Baune, Bernhard T, Blangero, John, Bokde, Arun LW, Boedhoe, Premika SW, Bose, Anushree, Brem, Silvia, Brodaty, Henry, Bromberg, Uli, Brooks, Samantha, Büchel, Christian, Buitelaar, Jan, Calhoun, Vince D, Cannon, Dara M, Cattrell, Anna, Cheng, Yuqi, Conrod, Patricia J, Conzelmann, Annette, Corvin, Aiden, Crespo-Facorro, Benedicto, Crivello, Fabrice, Dannlowski, Udo, de Zubicaray, Greig I, de Zwarte, Sonja MC, Deary, Ian J, Desrivières, Sylvane, Doan, Nhat Trung, Donohoe, Gary, Dørum, Erlend S, Ehrlich, Stefan, Espeseth, Thomas, Fernández, Guillén, Flor, Herta, Fouche, Jean-Paul, Frouin, Vincent, Fukunaga, Masaki, Gallinat, Jürgen, Garavan, Hugh, Gill, Michael, Suarez, Andrea Gonzalez, Gowland, Penny, Grabe, Hans J, Grotegerd, Dominik, Gruber, Oliver, Hagenaars, Saskia, Hashimoto, Ryota, Hauser, Tobias U, Heinz, Andreas, Hibar, Derrek P, Hoekstra, Pieter J, Hoogman, Martine, Howells, Fleur M, Hu, Hao, Hulshoff Pol, Hilleke E, Huyser, Chaim, Ittermann, Bernd, Jahanshad, Neda, Jönsson, Erik G, Jurk, Sarah, Kahn, Rene S, Kelly, Sinead, Kraemer, Bernd, Kugel, Harald, Kwon, Jun Soo, Lemaitre, Herve, Lesch, Klaus-Peter, Lochner, Christine, Luciano, Michelle, Marquand, Andre F, Martin, Nicholas G, Martínez-Zalacaín, Ignacio, Martinot, Jean-Luc, Mataix-Cols, David, Mather, Karen, McDonald, Colm, McMahon, Katie L, Medland, Sarah E, Menchón, José M, Morris, Derek W, Mothersill, Omar, Maniega, Susana Munoz, and Mwangi, Benson

Subjects
Brain, Humans, Magnetic Resonance Imaging, Organ Size, Aging, Sex Characteristics, Quantitative Trait, Heritable, Adolescent, Adult, Aged, Middle Aged, Female, Male, Functional Laterality, Meta-Analysis as Topic, Young Adult, Age, Enigma, Handedness, Heritability, Meta-analysis, Sex, Subcortical brain asymmetry, Quantitative Trait, Heritable, Medical and Health Sciences, Psychology and Cognitive Sciences, Experimental Psychology
Abstract

The two hemispheres of the human brain differ functionally and structurally. Despite over a century of research, the extent to which brain asymmetry is influenced by sex, handedness, age, and genetic factors is still controversial. Here we present the largest ever analysis of subcortical brain asymmetries, in a harmonized multi-site study using meta-analysis methods. Volumetric asymmetry of seven subcortical structures was assessed in 15,847 MRI scans from 52 datasets worldwide. There were sex differences in the asymmetry of the globus pallidus and putamen. Heritability estimates, derived from 1170 subjects belonging to 71 extended pedigrees, revealed that additive genetic factors influenced the asymmetry of these two structures and that of the hippocampus and thalamus. Handedness had no detectable effect on subcortical asymmetries, even in this unprecedented sample size, but the asymmetry of the putamen varied with age. Genetic drivers of asymmetry in the hippocampus, thalamus and basal ganglia may affect variability in human cognition, including susceptibility to psychiatric disorders.

Published
2017

7. 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

8. Novel genetic loci underlying human intracranial volume identified through genome-wide association

Author

Adams, Hieab HH, Hibar, Derrek P, Chouraki, Vincent, Stein, Jason L, Nyquist, Paul A, Rentería, Miguel E, Trompet, Stella, Arias-Vasquez, Alejandro, Seshadri, Sudha, Desrivières, Sylvane, Beecham, Ashley H, Jahanshad, Neda, Wittfeld, Katharina, Van der Lee, Sven J, Abramovic, Lucija, Alhusaini, Saud, Amin, Najaf, Andersson, Micael, Arfanakis, Konstantinos, Aribisala, Benjamin S, Armstrong, Nicola J, Athanasiu, Lavinia, Axelsson, Tomas, Beiser, Alexa, Bernard, Manon, Bis, Joshua C, Blanken, Laura ME, Blanton, Susan H, Bohlken, Marc M, Boks, Marco P, Bralten, Janita, Brickman, Adam M, Carmichael, Owen, Chakravarty, M Mallar, Chauhan, Ganesh, Chen, Qiang, Ching, Christopher RK, Cuellar-Partida, Gabriel, Braber, Anouk Den, Doan, Nhat Trung, Ehrlich, Stefan, Filippi, Irina, Ge, Tian, Giddaluru, Sudheer, Goldman, Aaron L, Gottesman, Rebecca F, Greven, Corina U, Grimm, Oliver, Griswold, Michael E, Guadalupe, Tulio, Hass, Johanna, Haukvik, Unn K, Hilal, Saima, Hofer, Edith, Hoehn, David, Holmes, Avram J, Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Kasperaviciute, Dalia, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H, Liao, Jiemin, Liewald, David CM, Lopez, Lorna M, Luciano, Michelle, Macare, Christine, Marquand, Andre, Matarin, Mar, Mather, Karen A, Mattheisen, Manuel, Mazoyer, Bernard, McKay, David R, McWhirter, Rebekah, Milaneschi, Yuri, Mirza-Schreiber, Nazanin, Muetzel, Ryan L, Maniega, Susana Muñoz, Nho, Kwangsik, Nugent, Allison C, Loohuis, Loes M Olde, Oosterlaan, Jaap, Papmeyer, Martina, Pappa, Irene, Pirpamer, Lukas, Pudas, Sara, Pütz, Benno, Rajan, Kumar B, Ramasamy, Adaikalavan, Richards, Jennifer S, Risacher, Shannon L, Roiz-Santiañez, Roberto, Rommelse, Nanda, Rose, Emma J, Royle, Natalie A, Rundek, Tatjana, Sämann, Philipp G, and Satizabal, Claudia L

Subjects
Biological Psychology, Biomedical and Clinical Sciences, Neurosciences, Psychology, Human Genome, Biotechnology, Brain Disorders, Clinical Research, Aging, Prevention, Neurodegenerative, Genetics, 2.1 Biological and endogenous factors, Brain, Cognition, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Oncogene Protein v-akt, Parkinson Disease, Phenotype, Phosphatidylinositol 3-Kinases, Polymorphism, Single Nucleotide, White People, Cognitive Sciences, Neurology & Neurosurgery, Biological psychology
Abstract

Intracranial volume reflects the maximally attained brain size during development, and remains stable with loss of tissue in late life. It is highly heritable, but the underlying genes remain largely undetermined. In a genome-wide association study of 32,438 adults, we discovered five previously unknown loci for intracranial volume and confirmed two known signals. Four of the loci were also associated with adult human stature, but these remained associated with intracranial volume after adjusting for height. We found a high genetic correlation with child head circumference (ρgenetic = 0.748), which indicates a similar genetic background and allowed us to identify four additional loci through meta-analysis (Ncombined = 37,345). Variants for intracranial volume were also related to childhood and adult cognitive function, and Parkinson's disease, and were enriched near genes involved in growth pathways, including PI3K-AKT signaling. These findings identify the biological underpinnings of intracranial volume and their link to physiological and pathological traits.

Published
2016

10. Common genetic variants influence human subcortical brain structures

Author

Hibar, Derrek P, Stein, Jason L, Renteria, Miguel E, Arias-Vasquez, Alejandro, Desrivières, Sylvane, Jahanshad, Neda, Toro, Roberto, Wittfeld, Katharina, Abramovic, Lucija, Andersson, Micael, Aribisala, Benjamin S, Armstrong, Nicola J, Bernard, Manon, Bohlken, Marc M, Boks, Marco P, Bralten, Janita, Brown, Andrew A, Mallar Chakravarty, M, Chen, Qiang, Ching, Christopher RK, Cuellar-Partida, Gabriel, den Braber, Anouk, Giddaluru, Sudheer, Goldman, Aaron L, Grimm, Oliver, Guadalupe, Tulio, Hass, Johanna, Woldehawariat, Girma, Holmes, Avram J, Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H, Olde Loohuis, Loes M, Luciano, Michelle, Macare, Christine, Mather, Karen A, Mattheisen, Manuel, Milaneschi, Yuri, Nho, Kwangsik, Papmeyer, Martina, Ramasamy, Adaikalavan, Risacher, Shannon L, Roiz-Santiañez, Roberto, Rose, Emma J, Salami, Alireza, Sämann, Philipp G, Schmaal, Lianne, Schork, Andrew J, Shin, Jean, Strike, Lachlan T, Teumer, Alexander, van Donkelaar, Marjolein MJ, van Eijk, Kristel R, Walters, Raymond K, Westlye, Lars T, Whelan, Christopher D, Winkler, Anderson M, Zwiers, Marcel P, Alhusaini, Saud, Athanasiu, Lavinia, Ehrlich, Stefan, Hakobjan, Marina MH, Hartberg, Cecilie B, Haukvik, Unn K, Heister, Angelien JGAM, Hoehn, David, Kasperaviciute, Dalia, Liewald, David CM, Lopez, Lorna M, Makkinje, Remco RR, Matarin, Mar, Naber, Marlies AM, Reese McKay, D, Needham, Margaret, Nugent, Allison C, Pütz, Benno, Royle, Natalie A, Shen, Li, Sprooten, Emma, Trabzuni, Daniah, van der Marel, Saskia SL, van Hulzen, Kimm JE, Walton, Esther, Wolf, Christiane, Almasy, Laura, Ames, David, Arepalli, Sampath, Assareh, Amelia A, Bastin, Mark E, Brodaty, Henry, Bulayeva, Kazima B, Carless, Melanie A, Cichon, Sven, Corvin, Aiden, Curran, Joanne E, and Czisch, Michael

Subjects
Biological Psychology, Biological Sciences, Genetics, Psychology, Brain Disorders, Human Genome, Mental Health, Neurosciences, 2.1 Biological and endogenous factors, 1.1 Normal biological development and functioning, Neurological, Mental health, Adolescent, Adult, Aged, Aged, 80 and over, Aging, Apoptosis, Brain, Caudate Nucleus, Child, Female, Gene Expression Regulation, Developmental, Genetic Loci, Genetic Variation, Genome-Wide Association Study, Hippocampus, Humans, Magnetic Resonance Imaging, Male, Membrane Proteins, Middle Aged, Organ Size, Putamen, Sex Characteristics, Skull, Young Adult, Alzheimer’s Disease Neuroimaging Initiative, CHARGE Consortium, EPIGEN, IMAGEN, SYS, General Science & Technology
Abstract

The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal behaviour and disease. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume and intracranial volume. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 × 10(-33); 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability in human brain development, and may help to determine mechanisms of neuropsychiatric dysfunction.

Published
2015

12. External Evaluation of a Mammography-based Deep Learning Model for Predicting Breast Cancer in an Ethnically Diverse Population

Author

Omoleye, Olasubomi J., primary, Woodard, Anna E., additional, Howard, Frederick M., additional, Zhao, Fangyuan, additional, Yoshimatsu, Toshio F., additional, Zheng, Yonglan, additional, Pearson, Alexander T., additional, Levental, Maksim, additional, Aribisala, Benjamin S., additional, Kulkarni, Kirti, additional, Karczmar, Gregory S., additional, Olopade, Olufunmilayo I., additional, Abe, Hiroyuki, additional, and Huo, Dezheng, additional

Published
2023
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13. Benign breast disease and breast cancer risk in African women: A case-control study

Author

Omoleye, Olasubomi J., primary, Freeman, Jincong Q., additional, Oluwasanu, Mojisola, additional, Adeniji-Sofoluwe, Adenike, additional, Woodard, Anna E., additional, Aribisala, Benjamin S., additional, Adejumo, Prisca O., additional, Ntekim, Atara, additional, Makumbi, Timothy, additional, Ndom, Paul, additional, Ajayi, IkeOluwapo O., additional, Olopade, Olufunmilayo I., additional, and Huo, Dezheng, additional

Published
2023
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16. Genetic variants for head size share genes and pathways with cancer

Author

Amouyel, Philippe, Arfanakis, Konstantinos, Aribisala, Benjamin S., Bastin, Mark E., Chauhan, Ganesh, Chen, Christopher, Cheng, Ching-Yu, de Jager, Philip L., Deary, Ian J., Fleischman, Debra A., Gottesman, Rebecca F., Gudnason, Vilmundur, Hilal, Saima, Hofer, Edith, Janowitz, Deborah, Jukema, J. Wouter, Liewald, David C.M., Lopez, Lorna M., Lopez, Oscar, Luciano, Michelle, Martinez, Oliver, Niessen, Wiro J., Nyquist, Paul, Rotter, Jerome I., Rundek, Tatjana, Sacco, Ralph L., Schmidt, Helena, Tiemeier, Henning, Trompet, Stella, van der Grond, Jeroen, Völzke, Henry, Wardlaw, Joanna M., Yanek, Lisa, Yang, Jingyun, Agartz, Ingrid, Alhusaini, Saud, Almasy, Laura, Ames, David, Amunts, Katrin, Andreassen, Ole A., Armstrong, Nicola, Bernard, Manon, Blangero, John, Blanken, Laura M.E., Boks, Marco P., Boomsma, Dorret I., Brickman, Adam M., Brodaty, Henry, Buckner, Randy L., Buitelaar, Jan K., Cannon, Dara M., Carr, Vaughan J., Catts, Stanley V., Chakravarty, M. Mallar, Chen, Qiang, Ching, Christopher R.K., Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E., Davies, Gareth E., de Geus, Eco J.C., de Zubicaray, Greig I., den Braber, Anouk, Desrivières, Sylvane, Dillman, Allissa, Djurovic, Srdjan, Drevets, Wayne C., Duggirala, Ravi, Ehrlich, Stefan, Erk, Susanne, Espeseth, Thomas, Fedko, Iryna O., Fernández, Guillén, Fisher, Simon E., Foroud, Tatiana M., Ge, Tian, Giddaluru, Sudheer, Glahn, David C., Goldman, Aaron L., Green, Robert C., Greven, Corina U., Grimm, Oliver, Hansell, Narelle K., Hartman, Catharina A., Hashimoto, Ryota, Heinz, Andreas, Henskens, Frans, Hibar, Derrek P., Ho, Beng-Choon, Hoekstra, Pieter J., Holmes, Avram J., Hoogman, Martine, Hottenga, Jouke-Jan, Hulshoff Pol, Hilleke E., Jablensky, Assen, Jenkinson, Mark, Jia, Tianye, Jöckel, Karl-Heinz, Jönsson, Erik G., Kim, Sungeun, Klein, Marieke, Kochunov, Peter, Kwok, John B., Lawrie, Stephen M., Le Hellard, Stephanie, Lemaître, Hervé, Loughland, Carmel, Marquand, Andre F., Martin, Nicholas G., Martinot, Jean-Luc, Matarin, Mar, Mathalon, Daniel H., Mather, Karen A., Mattay, Venkata S., McDonald, Colm, McMahon, Francis J., McMahon, Katie L., E, Rebekah, McWhirter, Mecocci, Patrizia, Melle, Ingrid, Meyer-Lindenberg, Andreas, Michie, Patricia T., Milaneschi, Yuri, Morris, Derek W., Mowry, Bryan, Nho, Kwangsik, Nichols, Thomas E., Nöthen, Markus N., Olvera, Rene L., Oosterlaan, Jaap, Ophoff, Roel A., Pandolfo, Massimo, Pantelis, Christos, Pappa, Irene, Penninx, Brenda, Pike, G. Bruce, Rasser, Paul E., Rentería, Miguel E., Reppermund, Simone, Rietschel, Marcella, Risacher, Shannon L., Romanczuk-Seiferth, Nina, Rose, Emma Jane, Sachdev, Perminder S., Sämann, Philipp G., Saykin, Andrew J., Schall, Ulrich, Schofield, Peter R., Schramm, Sara, Schumann, Gunter, Scott, Rodney, Shen, Li, Sisodiya, Sanjay M., Soininen, Hilkka, Sprooten, Emma, Srikanth, Velandai, Steen, Vidar M., Strike, Lachlan T., Thalamuthu, Anbupalam, Toga, Arthur W., Tooney, Paul, Tordesillas-Gutiérrez, Diana, Turner, Jessica A., Valdés Hernández, Maria del C., van der Meer, Dennis, Van der Wee, Nic J.A., Van Haren, Neeltje E.M., van 't Ent, Dennis, Veltman, Dick J., Walter, Henrik, Weinberger, Daniel R., Weiner, Michael W., Wen, Wei, Westlye, Lars T., Westman, Eric, Winkler, Anderson M., Woldehawariat, Girma, Wright, Margaret J., Wu, Jingqin, Knol, Maria J., Poot, Raymond A., Evans, Tavia E., Satizabal, Claudia L., Mishra, Aniket, Sargurupremraj, Muralidharan, van der Auwera, Sandra, Duperron, Marie-Gabrielle, Jian, Xueqiu, Hostettler, Isabel C., van Dam-Nolen, Dianne H.K., Lamballais, Sander, Pawlak, Mikolaj A., Lewis, Cora E., Carrion-Castillo, Amaia, van Erp, Theo G.M., Reinbold, Céline S., Shin, Jean, Scholz, Markus, Håberg, Asta K., Kämpe, Anders, Li, Gloria H.Y., Avinun, Reut, Atkins, Joshua R., Hsu, Fang-Chi, Amod, Alyssa R., Lam, Max, Tsuchida, Ami, Teunissen, Mariël W.A., Aygün, Nil, Patel, Yash, Liang, Dan, Beiser, Alexa S., Beyer, Frauke, Bis, Joshua C., Bos, Daniel, Bryan, R. Nick, Bülow, Robin, Caspers, Svenja, Catheline, Gwenaëlle, Cecil, Charlotte A.M., Dalvie, Shareefa, Dartigues, Jean-François, DeCarli, Charles, Enlund-Cerullo, Maria, Ford, Judith M., Franke, Barbara, Freedman, Barry I., Friedrich, Nele, Green, Melissa J., Haworth, Simon, Helmer, Catherine, Hoffmann, Per, Homuth, Georg, Ikram, M. Kamran, Jack, Clifford R., Jr., Jahanshad, Neda, Jockwitz, Christiane, Kamatani, Yoichiro, Knodt, Annchen R., Li, Shuo, Lim, Keane, Longstreth, W.T., Macciardi, Fabio, Mäkitie, Outi, Mazoyer, Bernard, Medland, Sarah E., Miyamoto, Susumu, Moebus, Susanne, Mosley, Thomas H., Muetzel, Ryan, Mühleisen, Thomas W., Nagata, Manabu, Nakahara, Soichiro, Palmer, Nicholette D., Pausova, Zdenka, Preda, Adrian, Quidé, Yann, Reay, William R., Roshchupkin, Gennady V., Schmidt, Reinhold, Schreiner, Pamela J., Setoh, Kazuya, Shapland, Chin Yang, Sidney, Stephen, St Pourcain, Beate, Stein, Jason L., Tabara, Yasuharu, Teumer, Alexander, Uhlmann, Anne, van der Lugt, Aad, Vernooij, Meike W., Werring, David J., Windham, B. Gwen, Witte, A. Veronica, Wittfeld, Katharina, Yang, Qiong, Yoshida, Kazumichi, Brunner, Han G., Le Grand, Quentin, Sim, Kang, Stein, Dan J., Bowden, Donald W., Cairns, Murray J., Hariri, Ahmad R., Cheung, Ching-Lung, Andersson, Sture, Villringer, Arno, Paus, Tomas, Cichon, Sven, Calhoun, Vince D., Crivello, Fabrice, Launer, Lenore J., White, Tonya, Koudstaal, Peter J., Houlden, Henry, Fornage, Myriam, Matsuda, Fumihiko, Grabe, Hans J., Ikram, M. Arfan, Debette, Stéphanie, Thompson, Paul M., Seshadri, Sudha, and Adams, Hieab H.H.

Published
2024
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22. 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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25. Multi-parametric Classification of Traumatic Brain Injury Patients Using Automatic Analysis of Quantitative MRI Scans

Author

Aribisala, Benjamin S., Cowie, Christopher J. A., He, Jiabao, Wood, Joshua, Mendelow, A. David, Mitchell, Patrick, Blamire, Andrew M., Hutchison, David, Kanade, Takeo, Kittler, Josef, Kleinberg, Jon M., Mattern, Friedemann, Mitchell, John C., Naor, Moni, Nierstrasz, Oscar, Pandu Rangan, C., Steffen, Bernhard, Sudan, Madhu, Terzopoulos, Demetri, Tygar, Doug, Vardi, Moshe Y., Weikum, Gerhard, Liao, Hongen, editor, Edwards, P. J. 'Eddie", editor, Pan, Xiaochuan, editor, Fan, Yong, editor, and Yang, Guang-Zhong, editor

Published
2010
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28. Human subcortical brain asymmetries in 15,847 people worldwide reveal effects of age and sex

Author

Guadalupe, Tulio, Mathias, Samuel R., vanErp, Theo G. M., Whelan, Christopher D., Zwiers, Marcel P., Abe, Yoshinari, Abramovic, Lucija, Agartz, Ingrid, Andreassen, Ole A., Arias-Vásquez, Alejandro, Aribisala, Benjamin S., Armstrong, Nicola J., Arolt, Volker, Artiges, Eric, Ayesa-Arriola, Rosa, Baboyan, Vatche G., Banaschewski, Tobias, Barker, Gareth, Bastin, Mark E., Baune, Bernhard T., Blangero, John, Bokde, Arun L.W., Boedhoe, Premika S.W., Bose, Anushree, Brem, Silvia, Brodaty, Henry, Bromberg, Uli, Brooks, Samantha, Büchel, Christian, Buitelaar, Jan, Calhoun, Vince D., Cannon, Dara M., Cattrell, Anna, Cheng, Yuqi, Conrod, Patricia J., Conzelmann, Annette, Corvin, Aiden, Crespo-Facorro, Benedicto, Crivello, Fabrice, Dannlowski, Udo, de Zubicaray, Greig I., de Zwarte, Sonja M.C., Deary, Ian J., Desrivières, Sylvane, Doan, Nhat Trung, Donohoe, Gary, Dørum, Erlend S., Ehrlich, Stefan, Espeseth, Thomas, Fernández, Guillén, Flor, Herta, Fouche, Jean-Paul, Frouin, Vincent, Fukunaga, Masaki, Gallinat, Jürgen, Garavan, Hugh, Gill, Michael, Suarez, Andrea Gonzalez, Gowland, Penny, Grabe, Hans J., Grotegerd, Dominik, Gruber, Oliver, Hagenaars, Saskia, Hashimoto, Ryota, Hauser, Tobias U., Heinz, Andreas, Hibar, Derrek P., Hoekstra, Pieter J., Hoogman, Martine, Howells, Fleur M., Hu, Hao, Hulshoff Pol, Hilleke E., Huyser, Chaim, Ittermann, Bernd, Jahanshad, Neda, Jönsson, Erik G., Jurk, Sarah, Kahn, Rene S., Kelly, Sinead, Kraemer, Bernd, Kugel, Harald, Kwon, Jun Soo, Lemaitre, Herve, Lesch, Klaus-Peter, Lochner, Christine, Luciano, Michelle, Marquand, Andre F., Martin, Nicholas G., Martínez-Zalacaín, Ignacio, Martinot, Jean-Luc, Mataix-Cols, David, Mather, Karen, McDonald, Colm, McMahon, Katie L., Medland, Sarah E., Menchón, José M., Morris, Derek W., Mothersill, Omar, Maniega, Susana Munoz, Mwangi, Benson, Nakamae, Takashi, Nakao, Tomohiro, Narayanaswaamy, Janardhanan C., Nees, Frauke, Nordvik, Jan E., Onnink, A. Marten H., Opel, Nils, Ophoff, Roel, Paillère Martinot, Marie-Laure, Papadopoulos Orfanos, Dimitri, Pauli, Paul, Paus, Tomáš, Poustka, Luise, Reddy, Janardhan YC., Renteria, Miguel E., Roiz-Santiáñez, Roberto, Roos, Annerine, Royle, Natalie A., Sachdev, Perminder, Sánchez-Juan, Pascual, Schmaal, Lianne, Schumann, Gunter, Shumskaya, Elena, Smolka, Michael N., Soares, Jair C., Soriano-Mas, Carles, Stein, Dan J., Strike, Lachlan T., Toro, Roberto, Turner, Jessica A., Tzourio-Mazoyer, Nathalie, Uhlmann, Anne, Hernández, Maria Valdés, van den Heuvel, Odile A., van der Meer, Dennis, van Haren, Neeltje E.M ., Veltman, Dick J., Venkatasubramanian, Ganesan, Vetter, Nora C., Vuletic, Daniella, Walitza, Susanne, Walter, Henrik, Walton, Esther, Wang, Zhen, Wardlaw, Joanna, Wen, Wei, Westlye, Lars T., Whelan, Robert, Wittfeld, Katharina, Wolfers, Thomas, Wright, Margaret J., Xu, Jian, Xu, Xiufeng, Yun, Je-Yeon, Zhao, JingJing, Franke, Barbara, Thompson, Paul M., Glahn, David C., Mazoyer, Bernard, Fisher, Simon E., and Francks, Clyde

Published
2016
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29. A Border Irregularity Measure Using a Modified Conditional Entropy Method as a Malignant Melanoma Predictor

Author

Aribisala, Benjamin S., Claridge, Ela, Hutchison, David, editor, Kanade, Takeo, editor, Kittler, Josef, editor, Kleinberg, Jon M., editor, Mattern, Friedemann, editor, Mitchell, John C., editor, Naor, Moni, editor, Nierstrasz, Oscar, editor, Pandu Rangan, C., editor, Steffen, Bernhard, editor, Sudan, Madhu, editor, Terzopoulos, Demetri, editor, Tygar, Dough, editor, Vardi, Moshe Y., editor, Weikum, Gerhard, editor, Kamel, Mohamed, editor, and Campilho, Aurélio, editor

Published
2005
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39. Sleep and brain morphological changes in the eighth decade of life

Author

Aribisala, Benjamin S., primary, Riha, Renata L., additional, Valdes Hernandez, Maria, additional, Muñoz Maniega, Susana, additional, Cox, Simon, additional, Radakovic, Ratko, additional, Taylor, Adele, additional, Pattie, Alison, additional, Corley, Janie, additional, Redmond, Paul, additional, Bastin, Mark E., additional, Starr, John, additional, Deary, Ian, additional, and Wardlaw, Joanna M., additional

Published
2020
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42. Exploration of Shared Genetic Architecture Between Subcortical Brain Volumes and Anorexia Nervosa

Author

Walton, E, Hibar, D, Yilmaz, Z, Jahanshad, N, Cheung, J, Batury, V-L, Seitz, J, Bulik, CM, Thompson, PM, Ehrlich, Stefan, Hibar, Derrek P, Stein, Jason L, Renteria, Miguel E, Arias-Vasquez, Alejandro, Desrivieres, Sylvane, Jahanshad, Neda, Toro, Roberto, Wittfeld, Katharina, Abramovic, Lucija, Andersson, Micael, Aribisala, Benjamin S, Armstrong, Nicola J, Bernard, Manon, Bohlken, Marc M, Boks, Marco P, Bralten, Janita, Brown, Andrew A, Chakravarty, M Mallar, Chen, Qiang, Ching, Christopher RK, Cuellar-Partida, Gabriel, Den Braber, Anouk, Giddaluru, Sudheer, Goldman, Aaron L, Grimm, Oliver, Guadalupe, Tulio, Hass, Johanna, Woldehawariat, Girma, Holmes, Avram J, Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H, Loohuis, Loes M Olde, Luciano, Michelle, Macare, Christine, Mather, Karen A, Mattheisen, Manuel, Milaneschi, Yuri, Nho, Kwangsik, Papmeyer, Martina, Ramasamy, Adaikalavan, Risacher, Shannon L, Roiz-Santianez, Roberto, Rose, Emma J, Salami, Alireza, Samann, Philipp G, Schmaal, Lianne, Schork, Andrew J, Shin, Jean, Strike, Lachlan T, Teumer, Alexander, van Donkelaar, Marjolein MJ, van Eijk, Kristel R, Walters, Raymond K, Westlye, Lars T, Whelan, Christopher D, Winkler, Anderson M, Zwiers, Marcel P, Alhusaini, Saud, Athanasiu, Lavinia, Hakobjan, Marina MH, Hartberg, Cecilie B, Haukvik, Unn K, Heister, Angelien JGAM, Hohn, David, Kasperaviciute, Dalia, Liewald, David CM, Lopez, Lorna M, Makkinje, Remco RR, Matarin, Mar, Naber, Marlies AM, Mckay, David R, Needham, Margaret, Nugent, Allison C, Putz, Benno, Shen, Li, Sprooten, Emma, Trabzuni, Daniah, van der Marel, Saskia SL, van Hulzen, Kimm JE, Walton, Esther, Wolf, Christiane, Almasy, Laura, Ames, David, Arepalli, Sampath, Assareh, Amelia A, Bastin, Mark E, Brodaty, Henry, Bulayeva, Kazima B, Carless, Melanie A, Cichon, Sven, Corvin, Aiden, Curran, Joanne E, Czisch, Michael, de Zubicaray, Greig I, Dillman, Allissa, Duggirala, Ravi, Dyer, Thomas D, Erk, Susanne, Fedko, Iryna O, Ferrucci, Luigi, Foroud, Tatiana M, Fox, Peter T, Fukunaga, Masaki, Gibbs, J Raphael, Goring, Harald HH, Green, Robert C, Guelfi, Sebastian, Hansell, Narelle K, Hartman, Catharina A, Hegenscheid, Katrin, Heinz, Andreas, Hernandez, Dena G, Heslenfeld, Dirk J, Hoekstra, Pieter J, Holsboer, Florian, Homuth, Georg, Hottenga, Jouke-Jan, Ikeda, Masashi, Jr, Jack Clifford R, Jenkinson, Mark, Johnson, Robert, Kanai, Ryota, Keil, Maria, Jr, Kent Jack W, Kochunov, Peter, Kwok, John B, Lawrie, Stephen M, Liu, Xinmin, Longo, Dan L, McMahon, Katie L, Meisenzahl, Eva, Melle, Ingrid, Mohnke, Sebastian, Montgomery, Grant W, Mostert, Jeanette C, Muhleisen, Thomas W, Nalls, Michael A, Nichols, Thomas E, Nilsson, Lars G, Nothen, Markus M, Ohi, Kazutaka, Olvera, Rene L, Perez-Iglesias, Rocio, Pike, G Bruce, Potkin, Steven G, Reinvang, Ivar, Reppermund, Simone, Rietschel, Marcella, Romanczuk-Seiferth, Nina, Rosen, Glenn D, Rujescu, Dan, Schnell, Knut, Schofield, Peter R, Smith, Colin, Steen, Vidar M, Sussmann, Jessika E, Thalamuthu, Anbupalam, Toga, Arthur W, Traynor, Bryan J, Troncoso, Juan, Turner, Jessica A, Hernandez, Maria C Valdes, van't Ent, Dennis, van der Brug, Marcel, van der Wee, Nic JA, van Tol, Marie-Jose, Veltman, Dick J, Wassink, Thomas H, Westman, Eric, Zielke, Ronald H, Zonderman, Alan B, Ashbrook, David G, Hager, Reinmar, Lu, Lu, McMahon, Francis J, Morris, Derek W, Williams, Robert W, Brunner, Han G, Buckner, Randy L, Buitelaar, Jan K, Cahn, Wiepke, Calhoun, Vince D, Cavalleri, Gianpiero L, Crespo-Facorro, Benedicto, Dale, Anders M, Davies, Gareth E, Delanty, Norman, Depondt, Chantal, Djurovic, Srdjan, Drevets, Wayne C, Espeseth, Thomas, Gollub, Randy L, Ho, Beng-Choon, Hoffmann, Wolfgang, Hosten, Norbert, Kahn, Rene S, Le Hellard, Stephanie, Meyer-Lindenberg, Andreas, Mueller-Myhsok, Bertram, Nauck, Matthias, Nyberg, Lars, Pandolfo, Massimo, Penninx, Brenda WJH, Roffman, Joshua L, Sisodiya, Sanjay M, Smoller, Jordan W, van Bokhoven, Hans, van Haren, Neeltje EM, Volzke, Henry, Walter, Henrik, Weiner, Michael W, Wen, Wei, White, Tonya, Agartz, Ingrid, Andreassen, Ole A, Blangero, John, Boomsma, Dorret I, Brouwer, Rachel M, Cannon, Dara M, Cookson, Mark R, de Geus, Eco JC, Deary, Ian J, Donohoe, Gary, Fernandez, Guillen, Fisher, Simon E, Francks, Clyde, Glahn, David C, Grabe, Hans J, Gruber, Oliver, Hardy, John, Hashimoto, Ryota, Pol, Hilleke E Hulshoff, Jonsson, Erik G, Kloszewska, Iwona, Lovestone, Simon, Mattay, Venkata S, Mecocci, Patrizia, McDonald, Colm, McIntosh, Andrew M, Ophoff, Roel A, Paus, Tomas, Pausova, Zdenka, Ryten, Mina, Sachdev, Perminder S, Saykin, Andrew J, Simmons, Andrew, Singleton, Andrew, Soininen, Hilkka, Wardlaw, Joanna M, Weale, Michael E, Weinberger, Daniel R, Adams, Hieab HH, Launer, Lenore J, Seiler, Stephan, Schmidt, Reinhold, Chauhan, Ganesh, Satizabal, Claudia L, Becker, James T, Yanek, Lisa R, van der Lee, Sven J, Ebling, Maritza, Fischl, Bruce, Longstreth, WT, Greve, Douglas, Schmidt, Helena, Nyquist, Paul, Vinke, Louis N, van Duijn, Cornelia M, Luting, Xue, Mazoyer, Bernard, Bis, Joshua C, Gudnason, Vilmundur, Seshadri, Sudha, Ikram, M Arfan, Martin, Nicholas G, Wright, Margaret J, Schumann, Gunter, Franke, Barbara, Thompson, Paul M, Medland, Sarah E, Duncan, Laramie, Yilmaz, Zeynep, Walters, Raymond, Goldstein, Jackie, Anttila, Verneri, Bulik-Sullivan, Brendan, Ripke, Stephan, Adan, Roger, Alfredsson, Lars, Ando, Tetsuya, Andreassen, Ole, Aschauer, Harald, Baker, Jessica, Barrett, Jeffrey, Bencko, Vladimir, Bergen, Andrew, Berrettini, Wade, Birgegard, Andreas, Boni, Claudette, Perica, Vesna Boraska, Brandt, Harry, Burghardt, Roland, Carlberg, Laura, Cassina, Matteo, Cichon, Carolyn Cesta Sven, Clementi, Maurizio, Cohen-Woods, Sarah, Coleman, Joni, Cone, Roger, Courtet, Philippe, Crawford, Steven, Crow, Scott, Crowley, Jim, Danner, Unna, Davis, Oliver, de Zwaan, Martina, Dedoussis, George, Degortes, Daniela, DeSocio, Janiece, Dick, Danielle, Dikeos, Dimitris, Dina, Christian, Ding, Bo, Dmitrzak-Weglarz, Monika, Docampo, Elisa, Egberts, Karin, Escaramis, Georgia, Esko, Tonu, Estivill, Xavier, Favaro, Angela, Fernandez-Aranda, Fernando, Fichter, Manfred, Finan, Chris, Fischer, Krista, Floyd, James, Focker, Manuel, Foretova, Lenka, Forzan, Monica, Fox, Caroline, Franklin, Christopher, Gallinger, Valerie Gaborieau Steven, Gambaro, Giovanni, Gaspar, Helena, Giegling, Ina, Gonidakis, Fragiskos, Gorwood, Philip, Gratacos, Monica, Guillaume, Sebastien, Guo, Yiran, Hakonarson, Hakon, Halmi, Katherine, Harrison, Rebecca, Hatzikotoulas, Konstantinos, Hauser, Joanna, Hebebrand, Johannes, Helder, Sietske, Hendriks, Judith, Herms, Stefan, Herpertz-Dahlmann, Beate, Herzog, Wolfgang, Hilliard, Christopher, Huckins, Laura, Hudson, James, Huemer, Julia, Imgart, Hartmut, Inoko, Hidetoshi, Jamain, Sigrid Jall Stephane, Janout, Vladimir, Jimenez-Murcia, Susana, Johnson, Craig, Jordan, Jenny, Julia, Antonio, Jureus, Anders, Kalsi, Gursharan, Kaplan, Allan, Kaprio, Jaakko, Karhunen, Leila, Karwautz, Andreas, Kas, Martien, Kaye, Walter, Kennedy, Martin, Kennedy, James, Keski-Rahkonen, Anna, Kiezebrink, Kirsty, Kim, Youl-Ri, Klareskog, Lars, Klump, Kelly, Knudsen, Gun Peggy, Koeleman, Bobby, Koubek, Doris, La Via, Maria, Landen, Mikael, Leboyer, Marion, Levitan, Robert, Li, Dong, Lichtenstein, Paul, Lilenfeld, Lisa, Lissowska, Jolanta, Lundervold, Astri, Magistretti, Pierre, Maj, Mario, Mannik, Katrin, Marsal, Sara, Kaminska, Debora, Martin, Nicholas, Mattingsdal, Morten, McDevitt, Sara, McGuffin, Peter, Merl, Elisabeth, Metspalu, Andres, Meulenbelt, Ingrid, Micali, Nadia, Mitchell, James, Mitchell, Karen, Monteleone, Palmiero, Monteleone, Alessio Maria, Montgomery, Grant, Mortensen, Preben, Munn-Chernoff, Melissa, Mueller, Timo, Nacmias, Benedetta, Navratilova, Marie, Nilsson, Ida, Norring, Claes, Ntalla, Ioanna, Ophoff, Roel, O'Toole, Julie, Palotie, Aarno, Pantel, Jacques, Papezova, Hana, Pinto, Richard Parker Dalila, Rabionet, Raquel, Raevuori, Anu, Rajewski, Andrzej, Ramoz, Nicolas, Rayner, N William, Reichborn-Kjennerud, Ted, Ricca, Valdo, Ripatti, Samuli, Ritschel, Franziska, Roberts, Marion, Rotondo, Alessandro, Rybakowski, Filip, Santonastaso, Paolo, Scherag, Andre, Scherer, Stephen, Schmidt, Ulrike, Schork, Nicholas, Schosser, Alexandra, Scott, Laura, Seitz, Jochen, Slachtova, Lenka, Sladek, Robert, Slagboom, P Eline, Slof-Op't Landt, Margarita, Slopien, Agnieszka, Smith, Tosha, Soranzo, Nicole, Sorbi, Sandro, Southam, Lorraine, Steen, Vidar, Strengman, Eric, Strober, Michael, Szatkiewicz, Jin, Szeszenia-Dabrowska, Neonila, Tachmazidou, Ioanna, Tenconi, Elena, Tortorella, Alfonso, Tozzi, Federica, Treasure, Janet, Tschop, Matthias, Tsitsika, Artemis, Tziouvas, Konstantinos, van Elburg, Annemarie, van Furth, Eric, Wade, Tracey, Wagner, Gudrun, Watson, Hunna, Wichmann, H-Erich, Widen, Elisabeth, Woodside, D Blake, Yanovski, Jack, Yao, Shuyang, Zerwas, Stephanie, Zipfel, Stephan, Thornton, Laura, Hinney, Anke, Breen, Gerome, Bulik, Cynthia M, PGC-ED, Grp, ENIGMA Genetics Working, Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Kas lab, Clinical Cognitive Neuropsychiatry Research Program (CCNP), Psychiatry, Amsterdam Neuroscience - Complex Trait Genetics, and APH - Mental Health

Subjects
0301 basic medicine, Anorexia Nervosa, Eating Disorders, REWARD CIRCUITRY, Genome-wide association study, ADOLESCENT, PGC-ED, Bioinformatics, Linkage Disequilibrium, 0302 clinical medicine, Anorexia nervosa, Brain structure, Genetic correlation, SCHIZOPHRENIA, ENIGMA Genetics Working Group, 2.1 Biological and endogenous factors, Psychology, Aetiology, Cervell, RISK, ABNORMALITIES, Anorèxia nerviosa, Brain, FUNCTIONAL CONNECTIVITY, Organ Size, Single Nucleotide, Serious Mental Illness, Magnetic Resonance Imaging, 3. Good health, Anorexia, Mental Health, Neurology, Anorexia nervosa (differential diagnoses), Brain size, MENDELIAN RANDOMIZATION, Biomedical Imaging, Cognitive Sciences, RESPONSE-INHIBITION, Neuroscience (miscellaneous), Biology, Polymorphism, Single Nucleotide, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, Mendelian randomization, Journal Article, Genetics, Humans, Genetic Testing, GENOME-WIDE ASSOCIATION, Polymorphism, POLYMORPHISMS, Genetic association, Neurology & Neurosurgery, Prevention, Human Genome, Neurosciences, Mendelian Randomization Analysis, Genetic architecture, Brain Disorders, 030104 developmental biology, Genetic marker, Case-Control Studies, 030217 neurology & neurosurgery, Genètica, Genome-Wide Association Study
Abstract

Molecular neurobiology 56(7), 5146-5156 (2019). doi:10.1007/s12035-018-1439-4, Published by Humana Press, Totowa, NJ

Published
2019

43. Genetic architecture of subcortical brain structures in 38,851 individuals

Author

Satizabal, Claudia L., Adams, Hieab H. H., Hibar, Derrek P., White, Charles C., Knol, Maria J., Stein, Jason L., Scholz, Markus, Sargurupremraj, Muralidharan, Jahanshad, Neda, Roshchupkin, Gennady, V, Smith, Albert, V, Bis, Joshua C., Jian, Xueqiu, Luciano, Michelle, Hofer, Edith, Teumer, Alexander, van der Lee, Sven J., Yang, Jingyun, Yanek, Lisa R., Lee, Tom, V, Li, Shuo, Hu, Yanhui, Koh, Jia Yu, Eicher, John D., Desrivieres, Sylvane, Arias-Vasquez, Alejandro, Chauhan, Ganesh, Athanasiu, Lavinia, Rentera, Miguel E., Kim, Sungeun, Hoehn, David, Armstrong, Nicola J., Chen, Qiang, Holmes, Avram J., den Braber, Anouk, Kloszewska, Iwona, Andersson, Micael, Espeseth, Thomas, Grimm, Oliver, Abramovic, Lucija, Alhusaini, Saud, Milaneschi, Yuri, Papmeyer, Martina, Axelsson, Tomas, Ehrlich, Stefan, Roiz-Santianez, Roberto, Kraemer, Bernd, Haberg, Asta K., Jones, Hannah J., Pike, G. Bruce, Stein, Dan J., Stevens, Allison, Bralten, Janita, Vernooij, Meike W., Harris, Tamara B., Filippi, Irina, Witte, A. Veronica, Guadalupe, Tulio, Wittfeld, Katharina, Mosley, Thomas H., Becker, James T., Doan, Nhat Trung, Hagenaars, Saskia P., Saba, Yasaman, Cuellar-Partida, Gabriel, Amin, Najaf, Hilal, Saima, Nho, Kwangsik, Mirza-Schreiber, Nazanin, Arfanakis, Konstantinos, Becker, Diane M., Ames, David, Goldman, Aaron L., Lee, Phil H., Boomsma, Dorret, I, Lovestone, Simon, Giddaluru, Sudheer, Le Hellard, Stephanie, Mattheisen, Manuel, Bohlken, Marc M., Kasperaviciute, Dalia, Schmaal, Lianne, Lawrie, Stephen M., Agartz, Ingrid, Walton, Esther, Tordesillas-Gutierrez, Diana, Davies, Gareth E., Shin, Jean, Ipser, Jonathan C., Vinke, Louis N., Hoogman, Martine, Jia, Tianye, Burkhardt, Ralph, Klein, Marieke, Crivello, Fabrice, Janowitz, Deborah, Carmichael, Owen, Haukvik, Unn K., Aribisala, Benjamin S., Schmidt, Helena, Strike, Lachlan T., Cheng, Ching-Yu, Risacher, Shannon L., Puetz, Benno, Fleischman, Debra A., Assareh, Amelia A., Mattay, Venkata S., Buckner, Randy L., Mecocci, Patrizia, Dale, Anders M., Cichon, Sven, Boks, Marco P., Matarin, Mar, Penninx, Brenda W. J. H., Calhoun, Vince D., Chakravarty, M. Mallar, Marquand, Andre F., Macare, Christine, Masouleh, Shahrzad Kharabian, Oosterlaan, Jaap, Amouyel, Philippe, Hegenscheid, Katrin, Rotter, Jerome, I, Schork, Andrew J., Liewald, David C. M., de Zubicaray, Greig, I, Wong, Tien Yin, Shen, Li, Saemann, Philipp G., Brodaty, Henry, Roffman, Joshua L., de Geus, Eco J. C., Tsolaki, Magda, Erk, Susanne, van Eijk, Kristel R., Cavalleri, Gianpiero L., van der Wee, Nic J. A., McIntosh, Andrew M., Gollub, Randy L., Bulayeva, Kazima B., Bernard, Manon, Richards, Jennifer S., Himali, Jayandra J., Loeffler, Markus, Rommelse, Nanda, Hoffmann, Wolfgang, Westlye, Lars T., Hernandez, Maria C. Valdes, Hansell, Narelle K., van Erp, Theo G. M., Wolf, Christiane, Kwok, John B. J., Vellas, Bruno, Heinz, Andreas, Loohuis, Loes M. Olde, Delanty, Norman, Ho, Beng-Choon, Ching, Christopher R. K., Shumskaya, Elena, Singh, Baljeet, Hofman, Albert, van der Meer, Dennis, Homuth, Georg, Psaty, Bruce M., Bastin, Mark E., Montgomery, Grant W., Foroud, Tatiana M., Reppermund, Simone, Hottenga, Jouke-Jan, Simmons, Andrew, Meyer-Lindenberg, Andreas, Cahn, Wiepke, Whelan, Christopher D., van Donkelaar, Marjolein M. J., Yang, Qiong, Hosten, Norbert, Green, Robert C., Thalamuthu, Anbupalam, Mohnke, Sebastian, Pol, Hilleke E. Hulshoff, Lin, Honghuang, Jack, Clifford R., Jr., Schofield, Peter R., Muehleisen, Thomas W., Maillard, Pauline, Potkin, Steven G., Wen, Wei, Fletcher, Evan, Toga, Arthur W., Gruber, Oliver, Huentelman, Matthew, Smith, George Davey, Launer, Lenore J., Nyberg, Lars, Jonsson, Erik G., Crespo-Facorro, Benedicto, Koen, Nastassja, Greve, Douglas N., Uitterlinden, Andre G., Weinberger, Daniel R., Steen, Vidar M., Fedko, Iryna O., Groenewold, Nynke A., Niessen, Wiro J., Toro, Roberto, Tzourio, Christophe, Longstreth, William T., Jr., Ikram, M. Kamran, Smoller, Jordan W., van Tol, Marie-Jose, Sussmann, Jessika E., Paus, Tomas, Lemaitre, Herve, Schroeter, Matthias L., Mazoyer, Bernard, Andreassen, Ole A., Holsboer, Florian, Depondt, Chantal, Veltman, Dick J., Turner, Jessica A., Pausova, Zdenka, Schumann, Gunter, van Rooij, Daan, Djurovic, Srdjan, Deary, Ian J., McMahon, Katie L., Mueller-Myhsok, Bertram, Brouwer, Rachel M., Soininen, Hilkka, Pandolfo, Massimo, Wassink, Thomas H., Cheung, Joshua W., Wolfers, Thomas, Martinot, Jean-Luc, Zwiers, Marcel P., Nauck, Matthias, Melle, Ingrid, Martin, Nicholas G., Kanai, Ryota, Westman, Eric, Kahn, Rene S., Sisodiya, Sanjay M., White, Tonya, Saremi, Arvin, van Bokhoven, Hans, Brunner, Han G., Voelzke, Henry, Wright, Margaret J., van't Ent, Dennis, Noethen, Markus M., Ophoff, Roel A., Buitelaar, Jan K., Fernandez, Guilln, Sachdev, Perminder S., Rietschel, Marcella, van Haren, Neeltje E. M., Fisher, Simon E., Beiser, Alexa S., Francks, Clyde, Saykin, Andrew J., Mather, Karen A., Romanczuk-Seiferth, Nina, Hartman, Catharina A., DeStefano, Anita L., Heslenfeld, Dirk J., Weiner, Michael W., Walter, Henrik, Hoekstra, Pieter J., Nyquist, Paul A., Franke, Barbara, Bennett, David A., Grabe, Hans J., Johnson, Andrew D., Chen, Christopher, van Duijn, Cornelia M., Lopez, Oscar L., Fornage, Myriam, Wardlaw, Joanna M., Schmidt, Reinhold, DeCarli, Charles, De Jager, Philip L., Villringer, Arno, Debette, Stephanie, Gudnason, Vilmundur, Medland, Sarah E., Shulman, Joshua M., Thompson, Paul M., Seshadri, Sudha, Ikram, M. Arfan, Satizabal, Claudia L., Adams, Hieab H. H., Hibar, Derrek P., White, Charles C., Knol, Maria J., Stein, Jason L., Scholz, Markus, Sargurupremraj, Muralidharan, Jahanshad, Neda, Roshchupkin, Gennady, V, Smith, Albert, V, Bis, Joshua C., Jian, Xueqiu, Luciano, Michelle, Hofer, Edith, Teumer, Alexander, van der Lee, Sven J., Yang, Jingyun, Yanek, Lisa R., Lee, Tom, V, Li, Shuo, Hu, Yanhui, Koh, Jia Yu, Eicher, John D., Desrivieres, Sylvane, Arias-Vasquez, Alejandro, Chauhan, Ganesh, Athanasiu, Lavinia, Rentera, Miguel E., Kim, Sungeun, Hoehn, David, Armstrong, Nicola J., Chen, Qiang, Holmes, Avram J., den Braber, Anouk, Kloszewska, Iwona, Andersson, Micael, Espeseth, Thomas, Grimm, Oliver, Abramovic, Lucija, Alhusaini, Saud, Milaneschi, Yuri, Papmeyer, Martina, Axelsson, Tomas, Ehrlich, Stefan, Roiz-Santianez, Roberto, Kraemer, Bernd, Haberg, Asta K., Jones, Hannah J., Pike, G. Bruce, Stein, Dan J., Stevens, Allison, Bralten, Janita, Vernooij, Meike W., Harris, Tamara B., Filippi, Irina, Witte, A. Veronica, Guadalupe, Tulio, Wittfeld, Katharina, Mosley, Thomas H., Becker, James T., Doan, Nhat Trung, Hagenaars, Saskia P., Saba, Yasaman, Cuellar-Partida, Gabriel, Amin, Najaf, Hilal, Saima, Nho, Kwangsik, Mirza-Schreiber, Nazanin, Arfanakis, Konstantinos, Becker, Diane M., Ames, David, Goldman, Aaron L., Lee, Phil H., Boomsma, Dorret, I, Lovestone, Simon, Giddaluru, Sudheer, Le Hellard, Stephanie, Mattheisen, Manuel, Bohlken, Marc M., Kasperaviciute, Dalia, Schmaal, Lianne, Lawrie, Stephen M., Agartz, Ingrid, Walton, Esther, Tordesillas-Gutierrez, Diana, Davies, Gareth E., Shin, Jean, Ipser, Jonathan C., Vinke, Louis N., Hoogman, Martine, Jia, Tianye, Burkhardt, Ralph, Klein, Marieke, Crivello, Fabrice, Janowitz, Deborah, Carmichael, Owen, Haukvik, Unn K., Aribisala, Benjamin S., Schmidt, Helena, Strike, Lachlan T., Cheng, Ching-Yu, Risacher, Shannon L., Puetz, Benno, Fleischman, Debra A., Assareh, Amelia A., Mattay, Venkata S., Buckner, Randy L., Mecocci, Patrizia, Dale, Anders M., Cichon, Sven, Boks, Marco P., Matarin, Mar, Penninx, Brenda W. J. H., Calhoun, Vince D., Chakravarty, M. Mallar, Marquand, Andre F., Macare, Christine, Masouleh, Shahrzad Kharabian, Oosterlaan, Jaap, Amouyel, Philippe, Hegenscheid, Katrin, Rotter, Jerome, I, Schork, Andrew J., Liewald, David C. M., de Zubicaray, Greig, I, Wong, Tien Yin, Shen, Li, Saemann, Philipp G., Brodaty, Henry, Roffman, Joshua L., de Geus, Eco J. C., Tsolaki, Magda, Erk, Susanne, van Eijk, Kristel R., Cavalleri, Gianpiero L., van der Wee, Nic J. A., McIntosh, Andrew M., Gollub, Randy L., Bulayeva, Kazima B., Bernard, Manon, Richards, Jennifer S., Himali, Jayandra J., Loeffler, Markus, Rommelse, Nanda, Hoffmann, Wolfgang, Westlye, Lars T., Hernandez, Maria C. Valdes, Hansell, Narelle K., van Erp, Theo G. M., Wolf, Christiane, Kwok, John B. J., Vellas, Bruno, Heinz, Andreas, Loohuis, Loes M. Olde, Delanty, Norman, Ho, Beng-Choon, Ching, Christopher R. K., Shumskaya, Elena, Singh, Baljeet, Hofman, Albert, van der Meer, Dennis, Homuth, Georg, Psaty, Bruce M., Bastin, Mark E., Montgomery, Grant W., Foroud, Tatiana M., Reppermund, Simone, Hottenga, Jouke-Jan, Simmons, Andrew, Meyer-Lindenberg, Andreas, Cahn, Wiepke, Whelan, Christopher D., van Donkelaar, Marjolein M. J., Yang, Qiong, Hosten, Norbert, Green, Robert C., Thalamuthu, Anbupalam, Mohnke, Sebastian, Pol, Hilleke E. Hulshoff, Lin, Honghuang, Jack, Clifford R., Jr., Schofield, Peter R., Muehleisen, Thomas W., Maillard, Pauline, Potkin, Steven G., Wen, Wei, Fletcher, Evan, Toga, Arthur W., Gruber, Oliver, Huentelman, Matthew, Smith, George Davey, Launer, Lenore J., Nyberg, Lars, Jonsson, Erik G., Crespo-Facorro, Benedicto, Koen, Nastassja, Greve, Douglas N., Uitterlinden, Andre G., Weinberger, Daniel R., Steen, Vidar M., Fedko, Iryna O., Groenewold, Nynke A., Niessen, Wiro J., Toro, Roberto, Tzourio, Christophe, Longstreth, William T., Jr., Ikram, M. Kamran, Smoller, Jordan W., van Tol, Marie-Jose, Sussmann, Jessika E., Paus, Tomas, Lemaitre, Herve, Schroeter, Matthias L., Mazoyer, Bernard, Andreassen, Ole A., Holsboer, Florian, Depondt, Chantal, Veltman, Dick J., Turner, Jessica A., Pausova, Zdenka, Schumann, Gunter, van Rooij, Daan, Djurovic, Srdjan, Deary, Ian J., McMahon, Katie L., Mueller-Myhsok, Bertram, Brouwer, Rachel M., Soininen, Hilkka, Pandolfo, Massimo, Wassink, Thomas H., Cheung, Joshua W., Wolfers, Thomas, Martinot, Jean-Luc, Zwiers, Marcel P., Nauck, Matthias, Melle, Ingrid, Martin, Nicholas G., Kanai, Ryota, Westman, Eric, Kahn, Rene S., Sisodiya, Sanjay M., White, Tonya, Saremi, Arvin, van Bokhoven, Hans, Brunner, Han G., Voelzke, Henry, Wright, Margaret J., van't Ent, Dennis, Noethen, Markus M., Ophoff, Roel A., Buitelaar, Jan K., Fernandez, Guilln, Sachdev, Perminder S., Rietschel, Marcella, van Haren, Neeltje E. M., Fisher, Simon E., Beiser, Alexa S., Francks, Clyde, Saykin, Andrew J., Mather, Karen A., Romanczuk-Seiferth, Nina, Hartman, Catharina A., DeStefano, Anita L., Heslenfeld, Dirk J., Weiner, Michael W., Walter, Henrik, Hoekstra, Pieter J., Nyquist, Paul A., Franke, Barbara, Bennett, David A., Grabe, Hans J., Johnson, Andrew D., Chen, Christopher, van Duijn, Cornelia M., Lopez, Oscar L., Fornage, Myriam, Wardlaw, Joanna M., Schmidt, Reinhold, DeCarli, Charles, De Jager, Philip L., Villringer, Arno, Debette, Stephanie, Gudnason, Vilmundur, Medland, Sarah E., Shulman, Joshua M., Thompson, Paul M., Seshadri, Sudha, and Ikram, M. Arfan

Abstract

Subcortical brain structures are integral to motion, consciousness, emotions and learning. We identified common genetic variation related to the volumes of the nucleus accumbens, amygdala, brainstem, caudate nucleus, globus pallidus, putamen and thalamus, using genome-wide association analyses in almost 40,000 individuals from CHARGE, ENIGMA and UK Biobank. We show that variability in subcortical volumes is heritable, and identify 48 significantly associated loci (40 novel at the time of analysis). Annotation of these loci by utilizing gene expression, methylation and neuropathological data identified 199 genes putatively implicated in neurodevelopment, synaptic signaling, axonal transport, apoptosis, inflammation/infection and susceptibility to neurological disorders. This set of genes is significantly enriched for Drosophila orthologs associated with neurodevelopmental phenotypes, suggesting evolutionarily conserved mechanisms. Our findings uncover novel biology and potential drug targets underlying brain development and disease.

Published
2019
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44. Identification of the presence of ischaemic stroke lesions by means of texture analysis on brain magnetic resonance images

Author

Ingenieria de Sistemas y Automatica, Ortiz Ramón, Rafael, Valdés Hernández, María del C., González Castro, Víctor, Makin, Stephen, Armitage, Paul A., Aribisala, Benjamin S., Bastin, Mark E., Deary, Ian J., Wardlaw, Joanna M., Moratal, David, Ingenieria de Sistemas y Automatica, Ortiz Ramón, Rafael, Valdés Hernández, María del C., González Castro, Víctor, Makin, Stephen, Armitage, Paul A., Aribisala, Benjamin S., Bastin, Mark E., Deary, Ian J., Wardlaw, Joanna M., and Moratal, David

Abstract

La cuantificación diferencial de la atrofia cerebral, hiperintensidades de materia blanca (WMH) y lesiones de accidente cerebrovascular es importante en estudios de accidente cerebrovascular y demencia. Sin embargo, la presencia de lesiones de accidente cerebrovascular, generalmente se pasa por alto por los métodos de procesamiento automático de la neuroimagen y los sistemas de aprendizaje profundo de última generación, que carecen de suficientes datos anotados. Exploramos el uso de la radiómica para identificar si una resonancia magnética (RMN) del cerebro pertenece a un individuo que tuvo un derrame cerebral o no. Las características de textura en los tejidos segmentados automática y convencionalmente, pueden ayudar a identificar la presencia de lesiones previas de accidente cerebrovascular en una resonancia magnética, y deben tenerse en cuenta en las estrategias de aprendizaje de transferencia de los sistemas de aprendizaje profundo de vanguardia.

Published
2019

45. Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept

Author

Franke, Barbara, Stein, Jason L, McIntosh, Andrew M, Eichhammer, Peter, Eriksson, Johan, Escott-Price, Valentina, Essioux, Laurent, Fanous, Ayman H, Farrell, Martilias S, Frank, Josef, Franke, Lude, Freedman, Robert, Freimer, Nelson B, Lee, Phil, Friedman, Joseph I, Fromer, Menachem, Genovese, Giulio, Georgieva, Lyudmila, Gershon, Elliot S, Giegling, Ina, Giusti-Rodríguez, Paola, Godard, Stephanie, Goldstein, Jacqueline I, Gopal, Srihari, McMahon, Francis J, Gratten, Jacob, de Haan, Lieuwe, Hammer, Christian, Hamshere, Marian L, Hansen, Mark, Hansen, Thomas, Haroutunian, Vahram, Hartmann, Annette M, Henskens, Frans A, Herms, Stefan L, Meyer-Lindenberg, Andreas, Hirschhorn, Joel N, Hoffmann, Per, Hofman, Andrea, Hollegaard, Mads V, Hougaard, David M, Ikeda, Masashi, Joa, Inge, Julià, Antonio, Kähler, Anna K, Kahn, René S, Mattheisen, Manuel, Kalaydjieva, Luba, Karachanak-Yankova, Sena, Karjalainen, Juha, Kavanagh, David, Keller, Matthew C, Kelly, Brian J, Kennedy, James L, Khrunin, Andrey, Kim, Yunjung, Klovins, Janis, Andreassen, Ole A, Knowles, James A, Konte, Bettina, Kucinskas, Vaidutis, Kucinskiene, Zita Ausrele, Kuzelova-Ptackova, Hana, Laurent, Claudine, Lee, S Hong, Keong, Jimmy Lee Chee, Legge, Sophie E, Lerer, Bernard, Gruber, Oliver, Li, Miaoxin, Li, Tao, Liang, Kung-Yee, Lieberman, Jeffrey, Limborska, Svetlana, Lönnqvist, Jouko, Loughland, Carmel M, Lubinski, Jan, Macek, Milan, Magnusson, Patrik K E, Sachdev, Perminder S, Maher, Brion S, Maier, Wolfgang, Mallet, Jacques, Marsal, Sara, Mattingsdal, Morten, McCarley, Robert W, McDonald, Colm, Meier, Sandra, Roiz-Santiañez, Roberto, Meijer, Carin J, Melegh, Bela, Melle, Ingrid, Mesholam-Gately, Raquelle I, Metspalu, Andres, Michie, Patricia T, Milani, Lili, Milanova, Vihra, Mokrab, Younes, Morris, Derek W, Saykin, Andrew J, Mors, Ole, Müller-Myhsok, Bertram, Murphy, Kieran C, Murray, Robin M, Myin-Germeys, Inez, Nelis, Mari, Nenadic, Igor, Nertney, Deborah A, Nestadt, Gerald, Nicodemus, Kristin K, Ripke, Stephan, Ehrlich, Stefan, Nikitina-Zake, Liene, Nisenbaum, Laura, Nordin, Annelie, O'Callaghan, Eadbhard, O'Dushlaine, Colm, O'Neill, F Anthony, Oh, Sang-Yun, Olincy, Ann, Olsen, Line, Van Os, Jim, Mather, Karen A, Pantelis, Christos, Papadimitriou, George N, Papiol, Sergi, Parkhomenko, Elena, Pato, Michele T, Paunio, Tiina, Perkins, Diana O, Pietiläinen, Olli, Pimm, Jonathan, Pocklington, Andrew J, Turner, Jessica A, Powell, John, Price, Alkes, Pulver, Ann E, Purcell, Shaun M, Quested, Digby, Rasmussen, Henrik B, Reichenberg, Abraham, Reimers, Mark A, Richards, Alexander L, Roffman, Joshua L, Schwarz, Emanuel, Roussos, Panos, Ruderfer, Douglas M, Salomaa, Veikko, Sanders, Alan R, Schall, Ulrich, Schubert, Christian R, Schulze, Thomas G, Schwab, Sibylle G, Scolnick, Edward M, Scott, Rodney J, Thalamuthu, Anbupalam, Seidman, Larry J, Shi, Jianxin, Silverman, Jeremy M, Sim, Kang, Slominsky, Petr, Smoller, Jordan W, So, Hon-Cheong, Söderman, Erik, Spencer, Chris C A, Stahl, Eli A, Shugart, Yin Yao, Stogmann, Elisabeth, Straub, Richard E, Strengman, Eric, Strohmaier, Jana, Stroup, T Scott, Subramaniam, Mythily, Suvisaari, Jaana, Svrakic, Dragan M, Szatkiewicz, Jin P, Thirumalai, Srinivas, Ho, Yvonne Yw, Toncheva, Draga, Tooney, Paul A, Veijola, Juha, Waddington, John, Walsh, Dermot, Wang, Dai, Wang, Qiang, Webb, Bradley T, Weiser, Mark, Wildenauer, Dieter B, Martin, Nicholas G, Williams, Nigel M, Williams, Stephanie, Witt, Stephanie H, Wolen, Aaron R, Wong, Emily H M, Wormley, Brandon K, Wu, Jing Qin, Xi, Hualin Simon, Zai, Clement C, Zheng, Xuebin, Wright, Margaret J, Zimprich, Fritz, Wray, Naomi R, Visscher, Peter M, Adolfsson, Rolf, Blackwood, Douglas H R, Børglum, Anders D, Bramon, Elvira, Buxbaum, Joseph D, Cichon, Sven, Consortium, Schizophrenia Working Group of the Psychiatric Genomics, Darvasi, Ariel, Domenici, Enrico, Ehrenreich, Hannelore, Esko, Tõnu, Gejman, Pablo V, Gill, Michael, Gurling, Hugh, Hultman, Christina M, Iwata, Nakao, Jablensky, Assen V, Anttila, Verneri, Consortium, ENIGMA, Jönsson, Erik G, Kendler, Kenneth S, Kirov, George, Knight, Jo, Lencz, Todd, Levinson, Douglas F, Li, Qingqin S, Liu, Jianjun, Malhotra, Anil K, McCarroll, Steven A, O'Donovan, Michael C, McQuillin, Andrew, Moran, Jennifer L, Mortensen, Preben B, Mowry, Bryan J, Nöthen, Markus M, Ophoff, Roel A, Owen, Michael J, Palotie, Aarno, Pato, Carlos N, Petryshen, Tracey L, Thompson, Paul M, Posthuma, Danielle, Rietschel, Marcella, Riley, Brien P, Rujescu, Dan, Sham, Pak C, Sklar, Pamela, Clair, David St, Weinberger, Daniel R, Wendland, Jens R, Werge, Thomas, Neale, Benjamin M, Daly, Mark J, Sullivan, Patrick F, Hibar, Derrek P, Renteria, Miguel E, Arias-Vasquez, Alejandro, Desrivières, Sylvane, Jahanshad, Neda, Toro, Roberto, Medland, Sarah E, Wittfeld, Katharina, Abramovic, Lucija, Andersson, Micael, Aribisala, Benjamin S, Armstrong, Nicola J, Bernard, Manon, Bohlken, Marc M, Boks, Marco P, Bralten, Janita, Brown, Andrew A, Chakravarty, M Mallar, Chen, Qiang, Ching, Christopher R K, Cuellar-Partida, Gabriel, den Braber, Anouk, Giddaluru, Sudheer, Goldman, Aaron L, Grimm, Oliver, Guadalupe, Tulio, Hass, Johanna, Woldehawariat, Girma, Holmes, Avram J, Hoogman, Martine, Janowitz, Deborah, Jia, Tianye, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Loohuis, Loes M Olde, Luciano, Michelle, Macare, Christine, Milaneschi, Yuri, Nho, Kwangsik, Papmeyer, Martina, Ramasamy, Adaikalavan, Risacher, Shannon L, Corvin, Aiden, Rose, Emma J, Salami, Alireza, Sämann, Philipp G, Schmaal, Lianne, Schork, Andrew J, Shin, Jean, Strike, Lachlan T, Teumer, Alexander, van Donkelaar, Marjolein M J, van Eijk, Kristel R, Walters, James T R, Walters, Raymond K, Westlye, Lars T, Whelan, Christopher D, Winkler, Anderson M, Zwiers, Marcel P, Alhusaini, Saud, Athanasiu, Lavinia, Hakobjan, Marina M H, Hartberg, Cecilie B, Farh, Kai-How, Haukvik, Unn, Heister, Angelien J G A M, Höhn, David, Kasperaviciute, Dalia, Liewald, David C M, Lopez, Lorna M, Makkinje, Remco R R, Matarin, Mar, Naber, Marlies A M, McKay, David R, Holmans, Peter A, Needham, Margaret, Nugent, Allison C, Pütz, Benno, Royle, Natalie A, Shen, Li, Sprooten, Emma, Trabzuni, Daniah, van der Marel, Saskia S L, van Hulzen, Kimm J E, Walton, Esther, Wolf, Christiane, Almasy, Laura, Ames, David, Arepalli, Sampath, Assareh, Amelia A, Bastin, Mark E, Brodaty, Henry, Bulayeva, Kazima B, Carless, Melanie A, Bulik-Sullivan, Brendan, Curran, Joanne E, Czisch, Michael, de Zubicaray, Greig I, Dillman, Allissa, Duggirala, Ravi, Dyer, Thomas D, Erk, Susanne, Fedko, Iryna O, Ferrucci, Luigi, Collier, David A, Foroud, Tatiana M, Fox, Peter T, Fukunaga, Masaki, Gibbs, Raphael, Göring, Harald H H, Green, Robert C, Guelfi, Sebastian, Hansell, Narelle K, Hartman, Catharina A, Hegenscheid, Katrin, Huang, Hailiang, Heinz, Andreas, Hernandez, Dena G, Heslenfeld, Dirk J, Hoekstra, Pieter J, Holsboer, Florian, Homuth, Georg, Hottenga, Jouke-Jan, Jack, Clifford R, Jenkinson, Mark, Pers, Tune H, Johnson, Robert, Kanai, Ryota, Keil, Maria, Kent, Jack W, Kochunov, Peter, Kwok, John B, Lawrie, Stephen M, Liu, Xinmin, Longo, Dan L, McMahon, Katie L, Agartz, Ingrid, Meisenzahl, Eva, Mohnke, Sebastian, Montgomery, Grant W, Mostert, Jeanette C, Mühleisen, Thomas W, Nalls, Michael A, Nichols, Thomas E, Nilsson, Lars G, Agerbo, Esben, Ohi, Kazutaka, Olvera, Rene L, Perez-Iglesias, Rocio, Pike, G Bruce, Potkin, Steven G, Reinvang, Ivar, Reppermund, Simone, Romanczuk-Seiferth, Nina, Rosen, Glenn D, Albus, Margot, Schnell, Knut, Schofield, Peter R, Smith, Colin, Steen, Vidar M, Sussmann, Jessika E, Toga, Arthur W, Traynor, Bryan, Troncoso, Juan, Alexander, Madeline, Hernández, Maria C Valdés, van 't Ent, Dennis, van der Brug, Marcel, van der Wee, Nic J A, van Tol, Marie-Jose, Veltman, Dick J, Wassink, Thomas H, Westman, Eric, Zielke, Ronald H, Amin, Farooq, Zonderman, Alan, Ashbrook, David G, Hager, Reinmar, Lu, Lu, Williams, Robert W, Brunner, Han G, Buckner, Randy L, Buitelaar, Jan K, Bacanu, Silviu A, Cahn, Wiepke, Calhoun, Vince D, Cavalleri, Gianpiero L, Crespo-Facorro, Benedicto, Dale, Anders M, Davies, Gareth E, Delanty, Norman, Depondt, Chantal, Djurovic, Srdjan, Drevets, Wayne C, Begemann, Martin, Espeseth, Thomas, Gollub, Randy L, Ho, Beng-Choon, Hoffmann, Wolfgang, Hosten, Norbert, LeHellard, Stephanie, Nauck, Matthias, Belliveau, Richard A, Nyberg, Lars, Pandolfo, Massimo, Penninx, Brenda W J H, Sisodiya, Sanjay M, van Bokhoven, Hans, van Haren, Neeltje E M, Völzke, Henry, Walter, Henrik, Bene, Judit, Weiner, Michael W, Wen, Wei, White, Tonya, Blangero, John, Boomsma, Dorret I, Brouwer, Rachel M, Cannon, Dara M, Cookson, Mark R, Bergen, Sarah E, de Geus, Eco J C, Deary, Ian J, Donohoe, Gary, Fernández, Guillén, Fisher, Simon E, Francks, Clyde, Glahn, David C, Grabe, Hans J, Hardy, John, Bevilacqua, Elizabeth, Hashimoto, Ryota, Hulshoff Pol, Hilleke E, Kloszewska, Iwona, Lovestone, Simon, Mattay, Venkata S, Mecocci, Patrizia, Bigdeli, Tim B, Paus, Tomas, Pausova, Zdenka, Ryten, Mina, Simmons, Andy, Singleton, Andrew, Soininen, Hilkka, Wardlaw, Joanna M, Weale, Michael E, Black, Donald W, Adams, Hieab H H, Launer, Lenore J, Seiler, Stephan, Schmidt, Reinhold, Chauhan, Ganesh, Satizabal, Claudia L, Becker, James T, Yanek, Lisa, van der Lee, Sven J, Bruggeman, Richard, Ebling, Maritza, Fischl, Bruce, Longstreth, W. T., Greve, Douglas, Schmidt, Helena, Nyquist, Paul, Vinke, Louis N, van Duijn, Cornelia M, Luting, Xue, Mazoyer, Bernard, Buccola, Nancy G, Bis, Joshua C, Gudnason, Vilmundur, Seshadri, Sudha, Ikram, M Arfan, Schumann, Gunter, Byerley, William F, Cai, Guiqing, Cairns, Murray J, Campion, Dominique, Cantor, Rita M, Carr, Vaughan J, Carrera, Noa, Catts, Stanley V, Chambert, Kimberley D, Chan, Raymond C K, Chen, Eric Y H, Chen, Ronald Y L, Cheng, Wei, Cheung, Eric F C, Chong, Siow Ann, Cloninger, C Robert, Cohen, David, Cohen, Nadine, Cormican, Paul, Craddock, Nick, Crowley, James J, Curtis, David, Davidson, Michael, Davis, Kenneth L, Degenhardt, Franziska, Neale, Michael C, Del Favero, Jurgen, DeLisi, Lynn E, Demontis, Ditte, Dikeos, Dimitris, Dinan, Timothy, Drapeau, Elodie, Duan, Jubao, Dudbridge, Frank, Franke, Barbara, Stein, Jason L, Ripke, Stephan, Anttila, Verneri, Hong Lee, S, Ikram, M Arfan, Schizophrenia Working Group of the Psychiatric Genomics Consortium, ENIGMA Consortium, Radboud University Medical Center [Nijmegen], University of Southern California (USC), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], Massachusetts General Hospital [Boston], University of Warwick [Coventry], University of Oxford [Oxford], Virginia Commonwealth University (VCU), University of Edinburgh, National Institutes of Health [Bethesda] (NIH), Chinese PLA General Hospital, University of Missouri [Columbia], University of Missouri System, Cardiff University, Aarhus University [Aarhus], Stanford University [Stanford], Max-Planck-Institut, University of Iowa [Iowa City], Icahn School of Medicine at Mount Sinai [New York] (MSSM), Schizophrenia Research Institute [Sydney], Génétique du cancer et des maladies neuropsychiatriques (GMFC), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Mathematics [CUHK], The Chinese University of Hong Kong [Hong Kong], The University of Hong Kong (HKU), University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), Castle Peak Hospital [Hong Kong], Institute of Mental Health [Singapore], Service de psychiatrie des enfants et adultes [CHU Pitié-Salpêtrière ], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Queen Mary University of London (QMUL), Open University of Israël, University of Antwerp (UA), Harvard Medical School [Boston] (HMS), University of Athens Medical School [Athens], University College Cork (UCC), University of Oslo (UiO), London School of Hygiene and Tropical Medicine (LSHTM), Universität Regensburg (UR), Biomedicum Helsinki, Roche Pharma Research and Early Development [Basel] (pRED), F. Hoffmann-La Roche [Basel], Universität Heidelberg [Heidelberg], University Medical Center Groningen [Groningen] (UMCG), Haverford College, Service de Pharmacologie, toxicologie et pharmacovigilance [CHU Limoges], CHU Limoges, University of Queensland [Brisbane], James J. Peters VA Medical Center [New York], Martin-Luther-University Halle-Wittenberg, University of Newcastle [Australia] (UoN), University of Basel (Unibas), Division of Medical Genetics [Seattle], University of Washington [Seattle], Statens Serum Institut [Copenhagen], Tohoku University [Sendai], University of Stavanger, Institut de biologie structurale (IBS - UMR 5075), Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Grenoble Alpes (UGA)-Centre National de la Recherche Scientifique (CNRS), University of Sofia, Physiologie de la reproduction et des comportements [Nouzilly] (PRC), Centre National de la Recherche Scientifique (CNRS)-Université de Tours-Institut Français du Cheval et de l'Equitation [Saumur]-Institut National de la Recherche Agronomique (INRA), Universität Stuttgart [Stuttgart], Russian Academy of Sciences [Moscow] (RAS), Latvian Biomedical Research and Study Centre [Rīga], Vilnius University [Vilnius], University Hospital Motol [Prague], Centre de Recherches en Cancérologie de Toulouse (CRCT), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Hadassah Hebrew University Medical Center [Jerusalem], Karolinska Institutet [Stockholm], University of Bonn, Génétique moléculaire de la neurotransmission et des processus neurodégénératifs (LGMNPN), Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), Vall d'Hebron University Hospital [Barcelona], Department of Life Sciences, Imperial College London, Deutscher Wetterdienst [Offenbach] (DWD), Eli Lilly and Company Limited [Windlesham], Trinity College Dublin, Royal College of Surgeons in Ireland (RCSI), Université de Lausanne (UNIL), University of Tartu, Johns Hopkins University School of Medicine [Baltimore], Stockholm University, Queen's University [Belfast] (QUB), Lawrence Berkeley National Laboratory [Berkeley] (LBNL), Universidade de São Paulo (USP), Department of Mathematics [Nanticoke], Luzerne County Community College, National Institute for Health and Welfare [Helsinki], King‘s College London, University of Chicago, Fraunhofer Heinrich Hertz Institute [Berlin] (HHI), Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), National Cancer Institute [Bethesda] (NCI-NIH), The Wellcome Trust Centre for Human Genetics [Oxford], Department of Genetic Epidemiology in Psychiatry [Mannhein], Universität Heidelberg [Heidelberg]-Central Institute of Mental Health Mannheim, The Natural History Museum [London] (NHM), University of Calgary, Department of Medical Epidemiology and Biostatistics (MEB), The University of Western Australia (UWA), Rheinische Friedrich-Wilhelms-Universität Bonn, Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris]-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Montreal Neurological Institute and Hospital, McGill University, Universidade do Algarve (UAlg), Beijing Normal University, Structure et Réactivité des Systèmes Moléculaires Complexes (SRSMC), Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Dpt of Psychiatry [New Haven], Yale University School of Medicine, Centre épigénétique et destin cellulaire (EDC (UMR_7216)), Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Bijvoet Center of Biomolecular Research, Utrecht University [Utrecht], School of Psychology, University of Queensland, Charité - Universitätsmedizin Berlin / Charite - University Medicine Berlin, Department of Mathematics, University of Colorado, University of Colorado [Boulder], VU University Amsterdam, Athinoula A. Martinos Center for Biomedical Imaging, Harvard Medical School [Boston] (HMS)-Massachusetts General Hospital [Boston], Department of Health and Human Services, McConnell Brain Imaging Centre (MNI), McGill University-McGill University, Institut Gilbert-Laustriat : Biomolécules, Biotechnologie, Innovation Thérapeutique, Université Louis Pasteur - Strasbourg I-Centre National de la Recherche Scientifique (CNRS), Computer Science and Artificial Intelligence Laboratory [Cambridge] (CSAIL), Massachusetts Institute of Technology (MIT), Clinical Cognitive Neuropsychiatry Research Program (CCNP), Del-Favero, Jurgen, Enigma Consortium, School of Medicine / Clinical Medicine, University of Oxford, University of Missouri [Columbia] (Mizzou), Stanford University, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Universität Heidelberg [Heidelberg] = Heidelberg University, University of Newcastle [Callaghan, Australia] (UoN), Institut de biologie structurale (IBS - UMR 5075 ), Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Софийски университет = Sofia University, Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Universität Bonn = University of Bonn, Université de Lausanne = University of Lausanne (UNIL), Universidade de São Paulo = University of São Paulo (USP), Fraunhofer Institute for Telecommunications - Heinrich Hertz Institute (Fraunhofer HHI), Fraunhofer (Fraunhofer-Gesellschaft), Universität Heidelberg [Heidelberg] = Heidelberg University-Central Institute of Mental Health Mannheim, Institut Pasteur [Paris] (IP)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), McGill University = Université McGill [Montréal, Canada], Beijing Normal University (BNU), Institut de Chimie du CNRS (INC)-Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Yale School of Medicine [New Haven, Connecticut] (YSM), Centre épigénétique et destin cellulaire (EDC), Bijvoet Center of Biomolecular Research [Utrecht], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Vrije Universiteit Amsterdam [Amsterdam] (VU), McGill University = Université McGill [Montréal, Canada]-McGill University = Université McGill [Montréal, Canada], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Recherche Agronomique (INRA)-Institut Français du Cheval et de l'Equitation [Saumur]-Université de Tours-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université Paris Diderot - Paris 7 (UPD7), Massachusetts General Hospital [Boston]-Harvard Medical School [Boston] (HMS), Institut National de la Recherche Agronomique (INRA)-Institut Français du Cheval et de l'Equitation [Saumur]-Université de Tours (UT)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC), Vrije universiteit = Free university of Amsterdam [Amsterdam] (VU), Biological Psychology, EMGO+ - Mental Health, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, Other departments, ANS - Mood, Anxiety, Psychosis, Stress & Sleep, Adult Psychiatry, Psychiatrie & Neuropsychologie, RS: MHeNs - R2 - Mental Health, MUMC+: MA Psychiatrie (3), and MUMC+: Hersen en Zenuw Centrum (3)

Subjects
0301 basic medicine, Netherlands Twin Register (NTR), genetic association, Genome-wide association study, brain imaging, VARIANTS, Genome-wide association studies, Linkage Disequilibrium, 0302 clinical medicine, pathology [Brain], 2.1 Biological and endogenous factors, Psychology, GWAS, genetics [Schizophrenia], genetics, genetics [Genetic Predisposition to Disease], Aetiology, Non-U.S. Gov't, PERSPECTIVE, humans, Schizophrenia Working Group of the Psychiatric Genomics Consortium, neuroimaging, General Neuroscience, Research Support, Non-U.S. Gov't, Brain, Single Nucleotide, Organ Size, Endophenotypes, Genetic Predisposition to Disease, Humans, Magnetic Resonance Imaging, Neuroimaging, Polymorphism, Single Nucleotide, Schizophrenia, Genome-Wide Association Study, Neuroscience (all), Serious Mental Illness, ENIGMA Consortium, 3. Good health, endophenotype, Mental Health, Meta-analysis, Neurological, genetics [Polymorphism, Single Nucleotide], Cognitive Sciences, MRI, Neuroinformatics, DISORDERS, heredity, Schizophrenia (object-oriented programming), brain, Non-P.H.S, Brain Structure and Function, RELATIVES, PHENOTYPES, Research Support, N.I.H, 03 medical and health sciences, Magnetic resonance imaging, ENDOPHENOTYPE, Research Support, N.I.H., Extramural, ddc:570, Journal Article, Polymorphism, GENOME-WIDE ASSOCIATION, pathology [Schizophrenia], METAANALYSIS, genetic predisposition to disease, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Neurology & Neurosurgery, genome-wide association study, [SCCO.NEUR]Cognitive science/Neuroscience, Human Genome, Neurosciences, Extramural, Genetic architecture, Brain Disorders, meta-analysis, schizophrenia, INDIVIDUALS, 030104 developmental biology, Genetic marker, Endophenotype, DISCOVERY, Genetic markers, U.S. Gov't, Human medicine, Neuroscience, genetic predisposition, 030217 neurology & neurosurgery, Research Support, U.S. Gov't, Non-P.H.S, Meta-Analysis
Abstract

Article, Schizophrenia is a devastating psychiatric illness with high heritability. Brain structure and function differ, on average, between people with schizophrenia and healthy individuals. As common genetic associations are emerging for both schizophrenia and brain imaging phenotypes, we can now use genome-wide data to investigate genetic overlap. Here we integrated results from common variant studies of schizophrenia (33,636 cases, 43,008 controls) and volumes of several (mainly subcortical) brain structures (11,840 subjects). We did not find evidence of genetic overlap between schizophrenia risk and subcortical volume measures either at the level of common variant genetic architecture or for single genetic markers. These results provide a proof of concept (albeit based on a limited set of structural brain measures) and define a roadmap for future studies investigating the genetic covariance between structural or functional brain phenotypes and risk for psychiatric disorders., final draft, peerReviewed

Published
2016

46. Remission of human type 2 diabetes requires decrease in liver and pancreas fat content but is dependent upon capacity for beta cell recovery

Author

Taylor, Roy, Al-Mrabeh, Ahmad, Zhyzhneuskaya, Sviatlana, Peters, Carl, Barnes, Alison C., Aribisala, Benjamin S., Hollingsworth, Kieren G., Mathers, John, Sattar, Naveed, and Lean, Michael E.J.

Abstract

The Diabetes Remission Clinical Trial reported return and persistence of non-diabetic blood glucose control in 46% of people with type 2 diabetes of up to 6 years duration. Detailed metabolic studies were performed on a subgroup (intervention, n = 64; control, n = 26). In the intervention group, liver fat content decreased (16.0% ± 1.3% to 3.1% ± 0.5%, p < 0.0001) immediately after weight loss. Similarly, plasma triglyceride and pancreas fat content decreased whether or not glucose control normalized. Recovery of first-phase insulin response (0.04[−0.05–0.32] to 0.11[0.0005–0.51] nmol/min/m2, p < 0.0001) defined those who returned to non-diabetic glucose control and this was durable at 12 months (0.11[0.005–0.81] nmol/min/m2, p = 0.0001). Responders were similar to non-responders at baseline but had shorter diabetes duration (2.7 ± 0.3 versus 3.8 ± 0.4 years; p = 0.02). This study demonstrates that β cell ability to recover long-term function persists after diagnosis, changing the previous paradigm of irreversible loss of β cell function in type 2 diabetes.

Published
2018

47. Polygenic Architecture of Human Neuroanatomical Diversity.

Author

Biton, Anne, Traut, Nicolas, Poline, Jean-Baptiste, Aribisala, Benjamin S, Bastin, Mark E, Bülow, Robin, Cox, Simon R, Deary, Ian J, Fukunaga, Masaki, Grabe, Hans J, Hagenaars, Saskia, Hashimoto, Ryota, Kikuchi, Masataka, Maniega, Susana Muñoz, Nauck, Matthias, Royle, Natalie A, Teumer, Alexander, Hernández, Maria Valdés, Völker, Uwe, and Wardlaw, Joanna M

Published
2020
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48. Coupled changes in hippocampal structure and cognitive ability in later life

Author

Anblagan, Devasuda, primary, Valdés Hernández, Maria C., additional, Ritchie, Stuart J., additional, Aribisala, Benjamin S., additional, Royle, Natalie A., additional, Hamilton, Iona F., additional, Cox, Simon R., additional, Gow, Alan J., additional, Pattie, Alison, additional, Corley, Janie, additional, Starr, John M., additional, Muñoz Maniega, Susana, additional, Bastin, Mark E., additional, Deary, Ian J., additional, and Wardlaw, Joanna M., additional

Published
2018
Full Text
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49. Novel genetic loci associated with hippocampal volume

Author

Hibar, Derrek P., Adams, Hieab H. H., Jahanshad, Neda, Chauhan, Ganesh, Stein, Jason L., Hofer, Edith, Renteria, Miguel E., Bis, Joshua C., Arias-Vasquez, Alejandro, Ikram, M. Kamran, Desrivieres, 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 R. K., 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, Jorgensen, Kjetil N., Karbalai, Nazanin, Kasperaviciute, Dalia, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H., Liewald, David C. M., Lopez, Lorna M., Luciano, Michelle, Macare, Christine, Marquand, Andre F., Matarin, Mar, Mather, Karen A., Mattheisen, Manuel, McKay, David R., Milaneschi, Yuri, Maniega, Susana Munoz, Nho, Kwangsik, Nugent, Allison C., Nyquist, Paul, Loohuis, Loes M. Olde, Oosterlaan, Jaap, Papmeyer, Martina, Pirpamer, Lukas, Puetz, Benno, Ramasamy, Adaikalavan, Richards, Jennifer S., Risacher, Shannon L., Roiz-Santianez, Roberto, Rommelse, Nanda, Ropele, Stefan, Rose, Emma J., Royle, Natalie A., Rundek, Tatjana, Saemann, 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., Teumer, Alexander, Tordesillas-Gutierrez, Diana, Toro, Roberto, Trabzuni, Daniah, Trompet, Stella, Vaidya, Dhananjay, Van der Grond, Jeroen, Van der Lee, Sven J., van der Meer, Dennis, Van Donkelaar, Marjolein M. J., Van Eijk, Kristel R., Van Erp, Theo G. M., Van Rooij, Daan, Walton, Esther, Westlye, Lars T., Whelan, Christopher D., Windham, Beverly G., Winkler, Anderson M., Wittfeld, Katharina, Woldehawariat, Girma, Wolf, Christiane, Wolfers, Thomas, Yanek, Lisa R., Yang, Jingyun, Zijdenbos, Alex, Zwiers, Marcel P., Agartz, Ingrid, Almasy, Laura, Ames, David, Amouyel, Philippe, Andreassen, Ole A., Arepalli, Sampath, Assareh, Amelia A., Barral, Sandra, Bastin, Mark E., Becker, Diane M., Becker, James T., Bennett, David A., Blangero, John, van Bokhoven, Hans, Boomsma, Dorret I., Brodaty, Henry, Brouwer, Rachel M., Brunner, Han G., Buckner, Randy L., Buitelaar, Jan K., Bulayeva, Kazima B., Cahn, Wiepke, Calhoun, Vince D., Cannon, Dara M., Cavalleri, Gianpiero L., Cheng, Ching-Yu, Cichon, Sven, Cookson, Mark R., Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E., Czisch, Michael, Dale, Anders M., Davies, Gareth E., De Craen, Anton J. M., De Geus, Eco J. C., De Jager, Philip L., De Zubicaray, Greig I., Deary, Ian J., Debette, Stephanie, DeCarli, Charles, Delanty, Norman, Depondt, Chantal, DeStefano, Anita, Dillman, Allissa, Djurovic, Srdjan, Donohoe, Gary, Drevets, Wayne C., Duggirala, Ravi, Dyer, Thomas D., Enzinger, Christian, Erk, Susanne, Espeseth, Thomas, Fedko, Iryna O., Fernandez, Guillen, Ferrucci, Luigi, Fisher, Simon E., Fleischman, Debra A., Ford, Ian, Fornage, Myriam, Foroud, Tatiana M., Fox, Peter T., Francks, Clyde, Fukunaga, Masaki, Gibbs, J. Raphael, Glahn, David C., Gollub, Randy L., Goring, Harald H. H., Green, Robert C., Gruber, Oliver, Gudnason, Vilmundur, Guelfi, Sebastian, Haberg, Asta K., Hansell, Narelle K., Hardy, John, Hartman, Catharina A., Hashimoto, Ryota, Hegenscheid, Katrin, Heinz, Andreas, Le Hellard, Stephanie, Hernandez, Dena G., Heslenfeld, Dirk J., Ho, Beng-Choon, Hoekstra, Pieter J., Hoffmann, Wolfgang, Hofman, Albert, Holsboer, Florian, Homuth, Georg, Hosten, Norbert, Hottenga, Jouke-Jan, Huentelman, Matthew, Pol, Hilleke E. Hulshoff, Ikeda, Masashi, Jack, Clifford R., Jr., Jenkinson, Mark, Johnson, Robert, Joensson, Erik G., Jukema, J. Wouter, Kahn, Rene S., Kanai, Ryota, Kloszewska, Iwona, Knopman, David S., Kochunov, Peter, Kwok, John B., Lawrie, Stephen M., Lemaitre, Herve, Liu, Xinmin, Longo, Dan L., Lopez, Oscar L., Lovestone, Simon, Martinez, Oliver, Martinot, Jean-Luc, Mattay, Venkata S., McDonald, Colm, McIntosh, Andrew M., McMahon, Francis J., McMahon, Katie L., Mecocci, Patrizia, Melle, Ingrid, Meyer-Lindenberg, Andreas, Mohnke, Sebastian, Montgomery, Grant W., Morris, Derek W., Mosley, Thomas H., Muhleisen, Thomas W., Mueller-Myhsok, Bertram, Nalls, Michael A., Nauck, Matthias, Nichols, Thomas E., Niessen, Wiro J., Nothen, Markus M., Nyberg, Lars, Ohi, Kazutaka, Olvera, Rene L., Ophoff, Roel A., Pandolfo, Massimo, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda W. J. H., Pike, G. Bruce, Potkin, Steven G., Psaty, Bruce M., Reppermund, Simone, Rietschel, Marcella, Roffman, Joshua L., Romanczuk-Seiferth, Nina, Rotter, Jerome I., Ryten, Mina, Sacco, Ralph L., Sachdev, Perminder S., Saykin, Andrew J., Schmidt, Reinhold, Schmidt, Helena, Schofield, Peter R., Sigursson, Sigurdur, Simmons, Andrew, Singleton, Andrew, Sisodiya, Sanjay M., Smith, Colin, Smoller, Jordan W., Soininen, Hilkka, Steen, Vidar M., Stott, David J., Sussmann, Jessika E., Thalamuthu, Anbupalam, Toga, Arthur W., Traynor, Bryan J., Troncoso, Juan, Tsolaki, Magda, Tzourio, Christophe, Uitterlinden, Andre G., Hernandez, Maria C. Valdes, Van der Brug, Marcel, van der Lugt, Aad, van der Wee, Nic J. A., Van Haren, Neeltje E. M., van't Ent, Dennis, Van Tol, Marie-Jose, Vardarajan, Badri N., Vellas, Bruno, Veltman, Dick J., Voelzke, Henry, Walter, Henrik, Wardlaw, Joanna M., Wassink, Thomas H., Weale, Michael E., Weinberger, Daniel R., Weiner, Michael W., Wen, Wei, Westman, Eric, White, Tonya, Wong, Tien Y., Wright, Clinton B., Zielke, Ronald H., Zonderman, Alan B., Martin, Nicholas G., Van Duijn, Cornelia M., Wright, Margaret J., Longstreth, W. T., Schumann, Gunter, Grabe, Hans J., Franke, Barbara, Launer, Lenore J., Medland, Sarah E., Seshadri, Sudha, Thompson, Paul M., Ikram, M. Arfan, Hibar, Derrek P., Adams, Hieab H. H., Jahanshad, Neda, Chauhan, Ganesh, Stein, Jason L., Hofer, Edith, Renteria, Miguel E., Bis, Joshua C., Arias-Vasquez, Alejandro, Ikram, M. Kamran, Desrivieres, 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 R. K., 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, Jorgensen, Kjetil N., Karbalai, Nazanin, Kasperaviciute, Dalia, Kim, Sungeun, Klein, Marieke, Kraemer, Bernd, Lee, Phil H., Liewald, David C. M., Lopez, Lorna M., Luciano, Michelle, Macare, Christine, Marquand, Andre F., Matarin, Mar, Mather, Karen A., Mattheisen, Manuel, McKay, David R., Milaneschi, Yuri, Maniega, Susana Munoz, Nho, Kwangsik, Nugent, Allison C., Nyquist, Paul, Loohuis, Loes M. Olde, Oosterlaan, Jaap, Papmeyer, Martina, Pirpamer, Lukas, Puetz, Benno, Ramasamy, Adaikalavan, Richards, Jennifer S., Risacher, Shannon L., Roiz-Santianez, Roberto, Rommelse, Nanda, Ropele, Stefan, Rose, Emma J., Royle, Natalie A., Rundek, Tatjana, Saemann, 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., Teumer, Alexander, Tordesillas-Gutierrez, Diana, Toro, Roberto, Trabzuni, Daniah, Trompet, Stella, Vaidya, Dhananjay, Van der Grond, Jeroen, Van der Lee, Sven J., van der Meer, Dennis, Van Donkelaar, Marjolein M. J., Van Eijk, Kristel R., Van Erp, Theo G. M., Van Rooij, Daan, Walton, Esther, Westlye, Lars T., Whelan, Christopher D., Windham, Beverly G., Winkler, Anderson M., Wittfeld, Katharina, Woldehawariat, Girma, Wolf, Christiane, Wolfers, Thomas, Yanek, Lisa R., Yang, Jingyun, Zijdenbos, Alex, Zwiers, Marcel P., Agartz, Ingrid, Almasy, Laura, Ames, David, Amouyel, Philippe, Andreassen, Ole A., Arepalli, Sampath, Assareh, Amelia A., Barral, Sandra, Bastin, Mark E., Becker, Diane M., Becker, James T., Bennett, David A., Blangero, John, van Bokhoven, Hans, Boomsma, Dorret I., Brodaty, Henry, Brouwer, Rachel M., Brunner, Han G., Buckner, Randy L., Buitelaar, Jan K., Bulayeva, Kazima B., Cahn, Wiepke, Calhoun, Vince D., Cannon, Dara M., Cavalleri, Gianpiero L., Cheng, Ching-Yu, Cichon, Sven, Cookson, Mark R., Corvin, Aiden, Crespo-Facorro, Benedicto, Curran, Joanne E., Czisch, Michael, Dale, Anders M., Davies, Gareth E., De Craen, Anton J. M., De Geus, Eco J. C., De Jager, Philip L., De Zubicaray, Greig I., Deary, Ian J., Debette, Stephanie, DeCarli, Charles, Delanty, Norman, Depondt, Chantal, DeStefano, Anita, Dillman, Allissa, Djurovic, Srdjan, Donohoe, Gary, Drevets, Wayne C., Duggirala, Ravi, Dyer, Thomas D., Enzinger, Christian, Erk, Susanne, Espeseth, Thomas, Fedko, Iryna O., Fernandez, Guillen, Ferrucci, Luigi, Fisher, Simon E., Fleischman, Debra A., Ford, Ian, Fornage, Myriam, Foroud, Tatiana M., Fox, Peter T., Francks, Clyde, Fukunaga, Masaki, Gibbs, J. Raphael, Glahn, David C., Gollub, Randy L., Goring, Harald H. H., Green, Robert C., Gruber, Oliver, Gudnason, Vilmundur, Guelfi, Sebastian, Haberg, Asta K., Hansell, Narelle K., Hardy, John, Hartman, Catharina A., Hashimoto, Ryota, Hegenscheid, Katrin, Heinz, Andreas, Le Hellard, Stephanie, Hernandez, Dena G., Heslenfeld, Dirk J., Ho, Beng-Choon, Hoekstra, Pieter J., Hoffmann, Wolfgang, Hofman, Albert, Holsboer, Florian, Homuth, Georg, Hosten, Norbert, Hottenga, Jouke-Jan, Huentelman, Matthew, Pol, Hilleke E. Hulshoff, Ikeda, Masashi, Jack, Clifford R., Jr., Jenkinson, Mark, Johnson, Robert, Joensson, Erik G., Jukema, J. Wouter, Kahn, Rene S., Kanai, Ryota, Kloszewska, Iwona, Knopman, David S., Kochunov, Peter, Kwok, John B., Lawrie, Stephen M., Lemaitre, Herve, Liu, Xinmin, Longo, Dan L., Lopez, Oscar L., Lovestone, Simon, Martinez, Oliver, Martinot, Jean-Luc, Mattay, Venkata S., McDonald, Colm, McIntosh, Andrew M., McMahon, Francis J., McMahon, Katie L., Mecocci, Patrizia, Melle, Ingrid, Meyer-Lindenberg, Andreas, Mohnke, Sebastian, Montgomery, Grant W., Morris, Derek W., Mosley, Thomas H., Muhleisen, Thomas W., Mueller-Myhsok, Bertram, Nalls, Michael A., Nauck, Matthias, Nichols, Thomas E., Niessen, Wiro J., Nothen, Markus M., Nyberg, Lars, Ohi, Kazutaka, Olvera, Rene L., Ophoff, Roel A., Pandolfo, Massimo, Paus, Tomas, Pausova, Zdenka, Penninx, Brenda W. J. H., Pike, G. Bruce, Potkin, Steven G., Psaty, Bruce M., Reppermund, Simone, Rietschel, Marcella, Roffman, Joshua L., Romanczuk-Seiferth, Nina, Rotter, Jerome I., Ryten, Mina, Sacco, Ralph L., Sachdev, Perminder S., Saykin, Andrew J., Schmidt, Reinhold, Schmidt, Helena, Schofield, Peter R., Sigursson, Sigurdur, Simmons, Andrew, Singleton, Andrew, Sisodiya, Sanjay M., Smith, Colin, Smoller, Jordan W., Soininen, Hilkka, Steen, Vidar M., Stott, David J., Sussmann, Jessika E., Thalamuthu, Anbupalam, Toga, Arthur W., Traynor, Bryan J., Troncoso, Juan, Tsolaki, Magda, Tzourio, Christophe, Uitterlinden, Andre G., Hernandez, Maria C. Valdes, Van der Brug, Marcel, van der Lugt, Aad, van der Wee, Nic J. A., Van Haren, Neeltje E. M., van't Ent, Dennis, Van Tol, Marie-Jose, Vardarajan, Badri N., Vellas, Bruno, Veltman, Dick J., Voelzke, Henry, Walter, Henrik, Wardlaw, Joanna M., Wassink, Thomas H., Weale, Michael E., Weinberger, Daniel R., Weiner, Michael W., Wen, Wei, Westman, Eric, White, Tonya, Wong, Tien Y., Wright, Clinton B., Zielke, Ronald H., Zonderman, Alan B., Martin, Nicholas G., Van Duijn, Cornelia M., Wright, Margaret J., Longstreth, W. T., Schumann, Gunter, Grabe, Hans J., Franke, Barbara, Launer, Lenore J., Medland, Sarah E., Seshadri, Sudha, Thompson, Paul M., and Ikram, M. Arfan

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 (r(g) = -0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness.

Published
2017
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50. Human subcortical brain asymmetries in 15,847 people worldwide reveal effects of age and sex

Author

Onderzoeksgroep 4, Brain, Onderzoeksgroep 1, Onderzoeksgroep 11, Onderzoek, Circulatory Health, Guadalupe, Tulio, Mathias, Samuel R., vanErp, Theo G.M., Whelan, Christopher D., Zwiers, Marcel P., Abe, Yoshinari, Abramovic, Lucija, Agartz, Ingrid, Andreassen, Ole A., Arias-Vásquez, Alejandro, Aribisala, Benjamin S., Armstrong, Nicola J., Arolt, Volker, Artiges, Eric, Ayesa-Arriola, Rosa, Baboyan, Vatche G., Banaschewski, Tobias, Barker, Gareth, Bastin, Mark E., Baune, Bernhard T., Blangero, John, Bokde, Arun L.W., Boedhoe, Premika S.W., Bose, Anushree, Brem, Silvia, Brodaty, Henry, Bromberg, Uli, Brooks, Samantha, Büchel, Christian, Buitelaar, Jan, Calhoun, Vince D., Cannon, Dara M., Cattrell, Anna, Cheng, Yuqi, Conrod, Patricia J., Conzelmann, Annette, Corvin, Aiden, Crespo-Facorro, Benedicto, Crivello, Fabrice, Dannlowski, Udo, de Zubicaray, Greig I., de Zwarte, Sonja M.C., Deary, Ian J., Desrivières, Sylvane, Doan, Nhat Trung, Donohoe, Gary, Dørum, Erlend S., Ehrlich, Stefan, Espeseth, Thomas, Fernández, Guillén, Flor, Herta, Fouche, Jean Paul, Frouin, Vincent, Fukunaga, Masaki, Gallinat, Jürgen, Garavan, Hugh, Gill, Michael, Suarez, Andrea Gonzalez, Gowland, Penny, Grabe, Hans J., Grotegerd, Dominik, Gruber, Oliver, Hagenaars, Saskia, Hashimoto, Ryota, Hauser, Tobias U., Heinz, Andreas, Hibar, Derrek P., Hoekstra, Pieter J., Hoogman, Martine, Howells, Fleur M., Hu, Hao, Hulshoff Pol, Hilleke E., Huyser, Chaim, Ittermann, Bernd, Jahanshad, Neda, Jönsson, Erik G., Jurk, Sarah, Kahn, Rene S., Kelly, Sinead, Kraemer, Bernd, Kugel, Harald, Kwon, Jun Soo, Lemaitre, Herve, Lesch, Klaus Peter, Lochner, Christine, Luciano, Michelle, Marquand, Andre F., Martin, Nicholas G., Martínez-Zalacaín, Ignacio, Martinot, Jean Luc, Mataix-Cols, David, Mather, Karen, McDonald, Colm, McMahon, Katie L., Medland, Sarah E., Menchón, José M., Morris, Derek W., Mothersill, Omar, Maniega, Susana Munoz, Mwangi, Benson, Nakamae, Takashi, Nakao, Tomohiro, Narayanaswaamy, Janardhanan C., Nees, Frauke, Nordvik, Jan E., Onnink, A. Marten H., Opel, Nils, Ophoff, Roel, Paillère Martinot, Marie Laure, Papadopoulos Orfanos, Dimitri, Pauli, Paul, Paus, Tomáš, Poustka, Luise, Reddy, Janardhan Yc, Renteria, Miguel E., Roiz-Santiáñez, Roberto, Roos, Annerine, Royle, Natalie A., Sachdev, Perminder, Sánchez-Juan, Pascual, Schmaal, Lianne, Schumann, Gunter, Shumskaya, Elena, Smolka, Michael N., Soares, Jair C., Soriano-Mas, Carles, Stein, Dan J., Strike, Lachlan T., Toro, Roberto, Turner, Jessica A., Tzourio-Mazoyer, Nathalie, Uhlmann, Anne, Hernández, Maria Valdés, van den Heuvel, Odile A., van der Meer, Dennis, van Haren, Neeltje E.M., Veltman, Dick J., Venkatasubramanian, Ganesan, Vetter, Nora C., Vuletic, Daniella, Walitza, Susanne, Walter, Henrik, Walton, Esther, Wang, Zhen, Wardlaw, Joanna, Wen, Wei, Westlye, Lars T., Whelan, Robert, Wittfeld, Katharina, Wolfers, Thomas, Wright, Margaret J., Xu, Jian, Xu, Xiufeng, Yun, Je Yeon, Zhao, Jing Jing, Franke, Barbara, Thompson, Paul M., Glahn, David C., Mazoyer, Bernard, Fisher, Simon E., Francks, Clyde, Onderzoeksgroep 4, Brain, Onderzoeksgroep 1, Onderzoeksgroep 11, Onderzoek, Circulatory Health, Guadalupe, Tulio, Mathias, Samuel R., vanErp, Theo G.M., Whelan, Christopher D., Zwiers, Marcel P., Abe, Yoshinari, Abramovic, Lucija, Agartz, Ingrid, Andreassen, Ole A., Arias-Vásquez, Alejandro, Aribisala, Benjamin S., Armstrong, Nicola J., Arolt, Volker, Artiges, Eric, Ayesa-Arriola, Rosa, Baboyan, Vatche G., Banaschewski, Tobias, Barker, Gareth, Bastin, Mark E., Baune, Bernhard T., Blangero, John, Bokde, Arun L.W., Boedhoe, Premika S.W., Bose, Anushree, Brem, Silvia, Brodaty, Henry, Bromberg, Uli, Brooks, Samantha, Büchel, Christian, Buitelaar, Jan, Calhoun, Vince D., Cannon, Dara M., Cattrell, Anna, Cheng, Yuqi, Conrod, Patricia J., Conzelmann, Annette, Corvin, Aiden, Crespo-Facorro, Benedicto, Crivello, Fabrice, Dannlowski, Udo, de Zubicaray, Greig I., de Zwarte, Sonja M.C., Deary, Ian J., Desrivières, Sylvane, Doan, Nhat Trung, Donohoe, Gary, Dørum, Erlend S., Ehrlich, Stefan, Espeseth, Thomas, Fernández, Guillén, Flor, Herta, Fouche, Jean Paul, Frouin, Vincent, Fukunaga, Masaki, Gallinat, Jürgen, Garavan, Hugh, Gill, Michael, Suarez, Andrea Gonzalez, Gowland, Penny, Grabe, Hans J., Grotegerd, Dominik, Gruber, Oliver, Hagenaars, Saskia, Hashimoto, Ryota, Hauser, Tobias U., Heinz, Andreas, Hibar, Derrek P., Hoekstra, Pieter J., Hoogman, Martine, Howells, Fleur M., Hu, Hao, Hulshoff Pol, Hilleke E., Huyser, Chaim, Ittermann, Bernd, Jahanshad, Neda, Jönsson, Erik G., Jurk, Sarah, Kahn, Rene S., Kelly, Sinead, Kraemer, Bernd, Kugel, Harald, Kwon, Jun Soo, Lemaitre, Herve, Lesch, Klaus Peter, Lochner, Christine, Luciano, Michelle, Marquand, Andre F., Martin, Nicholas G., Martínez-Zalacaín, Ignacio, Martinot, Jean Luc, Mataix-Cols, David, Mather, Karen, McDonald, Colm, McMahon, Katie L., Medland, Sarah E., Menchón, José M., Morris, Derek W., Mothersill, Omar, Maniega, Susana Munoz, Mwangi, Benson, Nakamae, Takashi, Nakao, Tomohiro, Narayanaswaamy, Janardhanan C., Nees, Frauke, Nordvik, Jan E., Onnink, A. Marten H., Opel, Nils, Ophoff, Roel, Paillère Martinot, Marie Laure, Papadopoulos Orfanos, Dimitri, Pauli, Paul, Paus, Tomáš, Poustka, Luise, Reddy, Janardhan Yc, Renteria, Miguel E., Roiz-Santiáñez, Roberto, Roos, Annerine, Royle, Natalie A., Sachdev, Perminder, Sánchez-Juan, Pascual, Schmaal, Lianne, Schumann, Gunter, Shumskaya, Elena, Smolka, Michael N., Soares, Jair C., Soriano-Mas, Carles, Stein, Dan J., Strike, Lachlan T., Toro, Roberto, Turner, Jessica A., Tzourio-Mazoyer, Nathalie, Uhlmann, Anne, Hernández, Maria Valdés, van den Heuvel, Odile A., van der Meer, Dennis, van Haren, Neeltje E.M., Veltman, Dick J., Venkatasubramanian, Ganesan, Vetter, Nora C., Vuletic, Daniella, Walitza, Susanne, Walter, Henrik, Walton, Esther, Wang, Zhen, Wardlaw, Joanna, Wen, Wei, Westlye, Lars T., Whelan, Robert, Wittfeld, Katharina, Wolfers, Thomas, Wright, Margaret J., Xu, Jian, Xu, Xiufeng, Yun, Je Yeon, Zhao, Jing Jing, Franke, Barbara, Thompson, Paul M., Glahn, David C., Mazoyer, Bernard, Fisher, Simon E., and Francks, Clyde

Published
2017

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