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  1. Article ; Online: How to assess negative affective reactivity to daily life stress in depressed and nondepressed individuals?

    van der Stouwe, Elisabeth C D / Groenewold, Nynke A / Bos, Elisabeth H / de Jonge, Peter / Wichers, Marieke / Booij, Sanne H

    Psychiatry research

    2019  Volume 279, Page(s) 259–266

    Abstract: Intensive longitudinal data studies on affective reactivity to daily life stress have used various dimensions of stress. Based on an evidence-based conceptual model of stress, the current study included unpredictability, uncontrollability and ... ...

    Abstract Intensive longitudinal data studies on affective reactivity to daily life stress have used various dimensions of stress. Based on an evidence-based conceptual model of stress, the current study included unpredictability, uncontrollability and unpleasantness, and examined whether and how these predict affective reactivity in depressed and non-depressed individuals in daily life. Participants (27 depressed, 27 non-depressed) completed a diary 3 times a day for a period of 30 days. Multilevel analyses were performed to investigate unpleasantness, uncontrollability and unpredictability of daily events as univariate predictors of negative affect (NA). Multivariable models were composed to determine the optimal combination of stress dimensions, and whether the strength of the predictions differed between the depressed and non-depressed groups. Unpleasantness, uncontrollability and unpredictability each predicted subsequent NA independently. However, a combination of all three dimensions, together with an interaction between unpleasantness and uncontrollability, predicted subsequent NA best. The stress dimensions predicted NA more strongly in the depressed than the non-depressed group. This was mostly accounted for by an increased NA response to unpleasantness. Thus, unpleasantness seems to be the most important aspect of daily stress to distinguish depressed from non-depressed individuals. Nevertheless, for a comprehensive assessment of affective reactivity, a multidimensional model of event stressfulness is recommended.
    MeSH term(s) Adult ; Affect/physiology ; Depressive Disorder, Major/diagnosis ; Depressive Disorder, Major/physiopathology ; Depressive Disorder, Major/psychology ; Female ; Humans ; Male ; Medical Records ; Middle Aged ; Monitoring, Ambulatory/methods ; Monitoring, Ambulatory/psychology ; Stress, Psychological/diagnosis ; Stress, Psychological/physiopathology ; Stress, Psychological/psychology ; Young Adult
    Language English
    Publishing date 2019-04-16
    Publishing country Ireland
    Document type Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 445361-x
    ISSN 1872-7123 ; 1872-7506 ; 0925-4927 ; 0165-1781
    ISSN (online) 1872-7123 ; 1872-7506
    ISSN 0925-4927 ; 0165-1781
    DOI 10.1016/j.psychres.2019.03.040
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Topical haemostatic agents for skin wounds: a systematic review.

    Groenewold, Marieke D / Gribnau, Astrid J / Ubbink, Dirk T

    BMC surgery

    2011  Volume 11, Page(s) 15

    Abstract: Background: Various agents and techniques have been introduced to limit intra-operative blood loss from skin lesions. No uniformity regarding the type of haemostasis exists and this is generally based on the surgeon's preference. To study the ... ...

    Abstract Background: Various agents and techniques have been introduced to limit intra-operative blood loss from skin lesions. No uniformity regarding the type of haemostasis exists and this is generally based on the surgeon's preference. To study the effectiveness of haemostatic agents, standardized wounds like donor site wounds after split skin grafting (SSG) appear particularly suitable. Thus, we performed a systematic review to assess the effectiveness of haemostatic agents in donor site wounds.
    Methods: We searched all randomized clinical trials (RCTs) on haemostasis after SSG in Medline, Embase and the Cochrane Library until January 2011. Two reviewers independently assessed trial relevance and quality and performed data analysis. Primary endpoint was effectiveness regarding haemostasis. Secondary endpoints were wound healing, adverse effects, and costs.
    Results: Nine relevant RCTs with a fair methodological quality were found, comparing epinephrine, thrombin, fibrin sealant, alginate dressings, saline, and mineral oil. Epinephrine achieved haemostasis significantly faster than thrombin (difference up to 2.5 minutes), saline or mineral oil (up to 6.5 minutes). Fibrin sealant also resulted in an up to 1 minute quicker haemostasis than thrombin and up to 3 minutes quicker than placebo, but was not directly challenged against epinephrine. Adverse effects appeared negligible. Due to lack of clinical homogeneity, meta-analysis was impossible.
    Conclusion: According to best available evidence, epinephrine and fibrin sealant appear superior to achieve haemostasis when substantial topical blood loss is anticipated, particularly in case of (larger) SSGs and burn debridement.
    MeSH term(s) Administration, Topical ; Hemorrhage/drug therapy ; Hemorrhage/etiology ; Hemostatics/administration & dosage ; Humans ; Skin/injuries ; Wounds and Injuries/complications ; Wounds and Injuries/diagnosis
    Chemical Substances Hemostatics
    Language English
    Publishing date 2011-07-12
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review ; Systematic Review
    ZDB-ID 2050442-1
    ISSN 1471-2482 ; 1471-2482
    ISSN (online) 1471-2482
    ISSN 1471-2482
    DOI 10.1186/1471-2482-11-15
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Topical haemostatic agents for skin wounds

    Ubbink Dirk T / Gribnau Astrid J / Groenewold Marieke D

    BMC Surgery, Vol 11, Iss 1, p

    a systematic review

    2011  Volume 15

    Abstract: Abstract Background Various agents and techniques have been introduced to limit intra-operative blood loss from skin lesions. No uniformity regarding the type of haemostasis exists and this is generally based on the surgeon's preference. To study the ... ...

    Abstract Abstract Background Various agents and techniques have been introduced to limit intra-operative blood loss from skin lesions. No uniformity regarding the type of haemostasis exists and this is generally based on the surgeon's preference. To study the effectiveness of haemostatic agents, standardized wounds like donor site wounds after split skin grafting (SSG) appear particularly suitable. Thus, we performed a systematic review to assess the effectiveness of haemostatic agents in donor site wounds. Methods We searched all randomized clinical trials (RCTs) on haemostasis after SSG in Medline, Embase and the Cochrane Library until January 2011. Two reviewers independently assessed trial relevance and quality and performed data analysis. Primary endpoint was effectiveness regarding haemostasis. Secondary endpoints were wound healing, adverse effects, and costs. Results Nine relevant RCTs with a fair methodological quality were found, comparing epinephrine, thrombin, fibrin sealant, alginate dressings, saline, and mineral oil. Epinephrine achieved haemostasis significantly faster than thrombin (difference up to 2.5 minutes), saline or mineral oil (up to 6.5 minutes). Fibrin sealant also resulted in an up to 1 minute quicker haemostasis than thrombin and up to 3 minutes quicker than placebo, but was not directly challenged against epinephrine. Adverse effects appeared negligible. Due to lack of clinical homogeneity, meta-analysis was impossible. Conclusion According to best available evidence, epinephrine and fibrin sealant appear superior to achieve haemostasis when substantial topical blood loss is anticipated, particularly in case of (larger) SSGs and burn debridement.
    Keywords Surgery ; RD1-811 ; Medicine ; R ; DOAJ:Surgery ; DOAJ:Medicine (General) ; DOAJ:Health Sciences
    Subject code 610
    Language English
    Publishing date 2011-07-01T00:00:00Z
    Publisher BioMed Central
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article ; Online: Subcortical volumes across the lifespan: Data from 18,605 healthy individuals aged 3-90 years.

    Dima, Danai / Modabbernia, Amirhossein / Papachristou, Efstathios / Doucet, Gaelle E / Agartz, Ingrid / Aghajani, Moji / Akudjedu, Theophilus N / Albajes-Eizagirre, Anton / Alnaes, Dag / Alpert, Kathryn I / Andersson, Micael / Andreasen, Nancy C / Andreassen, Ole A / Asherson, Philip / Banaschewski, Tobias / Bargallo, Nuria / Baumeister, Sarah / Baur-Streubel, Ramona / Bertolino, Alessandro /
    Bonvino, Aurora / Boomsma, Dorret I / Borgwardt, Stefan / Bourque, Josiane / Brandeis, Daniel / Breier, Alan / Brodaty, Henry / Brouwer, Rachel M / Buitelaar, Jan K / Busatto, Geraldo F / Buckner, Randy L / Calhoun, Vincent / Canales-Rodríguez, Erick J / Cannon, Dara M / Caseras, Xavier / Castellanos, Francisco X / Cervenka, Simon / Chaim-Avancini, Tiffany M / Ching, Christopher R K / Chubar, Victoria / Clark, Vincent P / Conrod, Patricia / Conzelmann, Annette / Crespo-Facorro, Benedicto / Crivello, Fabrice / Crone, Eveline A / Dannlowski, Udo / Dale, Anders M / Davey, Christopher / de Geus, Eco J C / de Haan, Lieuwe / de Zubicaray, Greig I / den Braber, Anouk / Dickie, Erin W / Di Giorgio, Annabella / Doan, Nhat Trung / Dørum, Erlend S / Ehrlich, Stefan / Erk, Susanne / Espeseth, Thomas / Fatouros-Bergman, Helena / Fisher, Simon E / Fouche, Jean-Paul / Franke, Barbara / Frodl, Thomas / Fuentes-Claramonte, Paola / Glahn, David C / Gotlib, Ian H / Grabe, Hans-Jörgen / Grimm, Oliver / Groenewold, Nynke A / Grotegerd, Dominik / Gruber, Oliver / Gruner, Patricia / Gur, Rachel E / Gur, Ruben C / Hahn, Tim / Harrison, Ben J / Hartman, Catharine A / Hatton, Sean N / Heinz, Andreas / Heslenfeld, Dirk J / Hibar, Derrek P / Hickie, Ian B / Ho, Beng-Choon / Hoekstra, Pieter J / Hohmann, Sarah / Holmes, Avram J / Hoogman, Martine / Hosten, Norbert / Howells, Fleur M / Hulshoff Pol, Hilleke E / Huyser, Chaim / Jahanshad, Neda / James, Anthony / Jernigan, Terry L / Jiang, Jiyang / Jönsson, Erik G / Joska, John A / Kahn, Rene / Kalnin, Andrew / Kanai, Ryota / Klein, Marieke / Klyushnik, Tatyana P / Koenders, Laura / Koops, Sanne / Krämer, Bernd / Kuntsi, Jonna / Lagopoulos, Jim / Lázaro, Luisa / Lebedeva, Irina / Lee, Won Hee / Lesch, Klaus-Peter / Lochner, Christine / Machielsen, Marise W J / Maingault, Sophie / Martin, Nicholas G / Martínez-Zalacaín, Ignacio / Mataix-Cols, David / Mazoyer, Bernard / McDonald, Colm / McDonald, Brenna C / McIntosh, Andrew M / McMahon, Katie L / McPhilemy, Genevieve / Meinert, Susanne / Menchón, José M / Medland, Sarah E / Meyer-Lindenberg, Andreas / Naaijen, Jilly / Najt, Pablo / Nakao, Tomohiro / Nordvik, Jan E / Nyberg, Lars / Oosterlaan, Jaap / de la Foz, Víctor Ortiz-García / Paloyelis, Yannis / Pauli, Paul / Pergola, Giulio / Pomarol-Clotet, Edith / Portella, Maria J / Potkin, Steven G / Radua, Joaquim / Reif, Andreas / Rinker, Daniel A / Roffman, Joshua L / Rosa, Pedro G P / Sacchet, Matthew D / Sachdev, Perminder S / Salvador, Raymond / Sánchez-Juan, Pascual / Sarró, Salvador / Satterthwaite, Theodore D / Saykin, Andrew J / Serpa, Mauricio H / Schmaal, Lianne / Schnell, Knut / Schumann, Gunter / Sim, Kang / Smoller, Jordan W / Sommer, Iris / Soriano-Mas, Carles / Stein, Dan J / Strike, Lachlan T / Swagerman, Suzanne C / Tamnes, Christian K / Temmingh, Henk S / Thomopoulos, Sophia I / Tomyshev, Alexander S / Tordesillas-Gutiérrez, Diana / Trollor, Julian N / Turner, Jessica A / Uhlmann, Anne / van den Heuvel, Odile A / van den Meer, Dennis / van der Wee, Nic J A / van Haren, Neeltje E M / Van't Ent, Dennis / van Erp, Theo G M / Veer, Ilya M / Veltman, Dick J / Voineskos, Aristotle / Völzke, Henry / Walter, Henrik / Walton, Esther / Wang, Lei / Wang, Yang / Wassink, Thomas H / Weber, Bernd / Wen, Wei / West, John D / Westlye, Lars T / Whalley, Heather / Wierenga, Lara M / Williams, Steven C R / Wittfeld, Katharina / Wolf, Daniel H / Worker, Amanda / Wright, Margaret J / Yang, Kun / Yoncheva, Yulyia / Zanetti, Marcus V / Ziegler, Georg C / Thompson, Paul M / Frangou, Sophia

    Human brain mapping

    2021  Volume 43, Issue 1, Page(s) 452–469

    Abstract: Age has a major effect on brain volume. However, the normative studies available are constrained by small sample sizes, restricted age coverage and significant methodological variability. These limitations introduce inconsistencies and may obscure or ... ...

    Abstract Age has a major effect on brain volume. However, the normative studies available are constrained by small sample sizes, restricted age coverage and significant methodological variability. These limitations introduce inconsistencies and may obscure or distort the lifespan trajectories of brain morphometry. In response, we capitalized on the resources of the Enhancing Neuroimaging Genetics through Meta-Analysis (ENIGMA) Consortium to examine age-related trajectories inferred from cross-sectional measures of the ventricles, the basal ganglia (caudate, putamen, pallidum, and nucleus accumbens), the thalamus, hippocampus and amygdala using magnetic resonance imaging data obtained from 18,605 individuals aged 3-90 years. All subcortical structure volumes were at their maximum value early in life. The volume of the basal ganglia showed a monotonic negative association with age thereafter; there was no significant association between age and the volumes of the thalamus, amygdala and the hippocampus (with some degree of decline in thalamus) until the sixth decade of life after which they also showed a steep negative association with age. The lateral ventricles showed continuous enlargement throughout the lifespan. Age was positively associated with inter-individual variability in the hippocampus and amygdala and the lateral ventricles. These results were robust to potential confounders and could be used to examine the functional significance of deviations from typical age-related morphometric patterns.
    MeSH term(s) Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Child, Preschool ; Female ; Humans ; Male ; Middle Aged ; Young Adult ; Amygdala/anatomy & histology ; Amygdala/diagnostic imaging ; Corpus Striatum/anatomy & histology ; Corpus Striatum/diagnostic imaging ; Hippocampus/anatomy & histology ; Hippocampus/diagnostic imaging ; Human Development/physiology ; Neuroimaging ; Thalamus/anatomy & histology ; Thalamus/diagnostic imaging
    Language English
    Publishing date 2021-02-11
    Publishing country United States
    Document type Journal Article ; Multicenter Study ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1197207-5
    ISSN 1097-0193 ; 1065-9471
    ISSN (online) 1097-0193
    ISSN 1065-9471
    DOI 10.1002/hbm.25320
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Cortical thickness across the lifespan: Data from 17,075 healthy individuals aged 3-90 years.

    Frangou, Sophia / Modabbernia, Amirhossein / Williams, Steven C R / Papachristou, Efstathios / Doucet, Gaelle E / Agartz, Ingrid / Aghajani, Moji / Akudjedu, Theophilus N / Albajes-Eizagirre, Anton / Alnaes, Dag / Alpert, Kathryn I / Andersson, Micael / Andreasen, Nancy C / Andreassen, Ole A / Asherson, Philip / Banaschewski, Tobias / Bargallo, Nuria / Baumeister, Sarah / Baur-Streubel, Ramona /
    Bertolino, Alessandro / Bonvino, Aurora / Boomsma, Dorret I / Borgwardt, Stefan / Bourque, Josiane / Brandeis, Daniel / Breier, Alan / Brodaty, Henry / Brouwer, Rachel M / Buitelaar, Jan K / Busatto, Geraldo F / Buckner, Randy L / Calhoun, Vincent / Canales-Rodríguez, Erick J / Cannon, Dara M / Caseras, Xavier / Castellanos, Francisco X / Cervenka, Simon / Chaim-Avancini, Tiffany M / Ching, Christopher R K / Chubar, Victoria / Clark, Vincent P / Conrod, Patricia / Conzelmann, Annette / Crespo-Facorro, Benedicto / Crivello, Fabrice / Crone, Eveline A / Dale, Anders M / Dannlowski, Udo / Davey, Christopher / de Geus, Eco J C / de Haan, Lieuwe / de Zubicaray, Greig I / den Braber, Anouk / Dickie, Erin W / Di Giorgio, Annabella / Doan, Nhat Trung / Dørum, Erlend S / Ehrlich, Stefan / Erk, Susanne / Espeseth, Thomas / Fatouros-Bergman, Helena / Fisher, Simon E / Fouche, Jean-Paul / Franke, Barbara / Frodl, Thomas / Fuentes-Claramonte, Paola / Glahn, David C / Gotlib, Ian H / Grabe, Hans-Jörgen / Grimm, Oliver / Groenewold, Nynke A / Grotegerd, Dominik / Gruber, Oliver / Gruner, Patricia / Gur, Rachel E / Gur, Ruben C / Hahn, Tim / Harrison, Ben J / Hartman, Catharine A / Hatton, Sean N / Heinz, Andreas / Heslenfeld, Dirk J / Hibar, Derrek P / Hickie, Ian B / Ho, Beng-Choon / Hoekstra, Pieter J / Hohmann, Sarah / Holmes, Avram J / Hoogman, Martine / Hosten, Norbert / Howells, Fleur M / Hulshoff Pol, Hilleke E / Huyser, Chaim / Jahanshad, Neda / James, Anthony / Jernigan, Terry L / Jiang, Jiyang / Jönsson, Erik G / Joska, John A / Kahn, Rene / Kalnin, Andrew / Kanai, Ryota / Klein, Marieke / Klyushnik, Tatyana P / Koenders, Laura / Koops, Sanne / Krämer, Bernd / Kuntsi, Jonna / Lagopoulos, Jim / Lázaro, Luisa / Lebedeva, Irina / Lee, Won Hee / Lesch, Klaus-Peter / Lochner, Christine / Machielsen, Marise W J / Maingault, Sophie / Martin, Nicholas G / Martínez-Zalacaín, Ignacio / Mataix-Cols, David / Mazoyer, Bernard / McDonald, Colm / McDonald, Brenna C / McIntosh, Andrew M / McMahon, Katie L / McPhilemy, Genevieve / Meinert, Susanne / Menchón, José M / Medland, Sarah E / Meyer-Lindenberg, Andreas / Naaijen, Jilly / Najt, Pablo / Nakao, Tomohiro / Nordvik, Jan E / Nyberg, Lars / Oosterlaan, Jaap / de la Foz, Víctor Ortiz-García / Paloyelis, Yannis / Pauli, Paul / Pergola, Giulio / Pomarol-Clotet, Edith / Portella, Maria J / Potkin, Steven G / Radua, Joaquim / Reif, Andreas / Rinker, Daniel A / Roffman, Joshua L / Rosa, Pedro G P / Sacchet, Matthew D / Sachdev, Perminder S / Salvador, Raymond / Sánchez-Juan, Pascual / Sarró, Salvador / Satterthwaite, Theodore D / Saykin, Andrew J / Serpa, Mauricio H / Schmaal, Lianne / Schnell, Knut / Schumann, Gunter / Sim, Kang / Smoller, Jordan W / Sommer, Iris / Soriano-Mas, Carles / Stein, Dan J / Strike, Lachlan T / Swagerman, Suzanne C / Tamnes, Christian K / Temmingh, Henk S / Thomopoulos, Sophia I / Tomyshev, Alexander S / Tordesillas-Gutiérrez, Diana / Trollor, Julian N / Turner, Jessica A / Uhlmann, Anne / van den Heuvel, Odile A / van den Meer, Dennis / van der Wee, Nic J A / van Haren, Neeltje E M / van 't Ent, Dennis / van Erp, Theo G M / Veer, Ilya M / Veltman, Dick J / Voineskos, Aristotle / Völzke, Henry / Walter, Henrik / Walton, Esther / Wang, Lei / Wang, Yang / Wassink, Thomas H / Weber, Bernd / Wen, Wei / West, John D / Westlye, Lars T / Whalley, Heather / Wierenga, Lara M / Wittfeld, Katharina / Wolf, Daniel H / Worker, Amanda / Wright, Margaret J / Yang, Kun / Yoncheva, Yulyia / Zanetti, Marcus V / Ziegler, Georg C / Thompson, Paul M / Dima, Danai

    Human brain mapping

    2021  Volume 43, Issue 1, Page(s) 431–451

    Abstract: Delineating the association of age and cortical thickness in healthy individuals is critical given the association of cortical thickness with cognition and behavior. Previous research has shown that robust estimates of the association between age and ... ...

    Abstract Delineating the association of age and cortical thickness in healthy individuals is critical given the association of cortical thickness with cognition and behavior. Previous research has shown that robust estimates of the association between age and brain morphometry require large-scale studies. In response, we used cross-sectional data from 17,075 individuals aged 3-90 years from the Enhancing Neuroimaging Genetics through Meta-Analysis (ENIGMA) Consortium to infer age-related changes in cortical thickness. We used fractional polynomial (FP) regression to quantify the association between age and cortical thickness, and we computed normalized growth centiles using the parametric Lambda, Mu, and Sigma method. Interindividual variability was estimated using meta-analysis and one-way analysis of variance. For most regions, their highest cortical thickness value was observed in childhood. Age and cortical thickness showed a negative association; the slope was steeper up to the third decade of life and more gradual thereafter; notable exceptions to this general pattern were entorhinal, temporopolar, and anterior cingulate cortices. Interindividual variability was largest in temporal and frontal regions across the lifespan. Age and its FP combinations explained up to 59% variance in cortical thickness. These results may form the basis of further investigation on normative deviation in cortical thickness and its significance for behavioral and cognitive outcomes.
    MeSH term(s) Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Child, Preschool ; Female ; Humans ; Male ; Middle Aged ; Young Adult ; Cerebral Cortex/anatomy & histology ; Cerebral Cortex/diagnostic imaging ; Cross-Sectional Studies ; Human Development/physiology ; Neuroimaging
    Language English
    Publishing date 2021-02-17
    Publishing country United States
    Document type Journal Article ; Multicenter Study ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1197207-5
    ISSN 1097-0193 ; 1065-9471
    ISSN (online) 1097-0193
    ISSN 1065-9471
    DOI 10.1002/hbm.25364
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: ENIGMA and global neuroscience: A decade of large-scale studies of the brain in health and disease across more than 40 countries.

    Thompson, Paul M / Jahanshad, Neda / Ching, Christopher R K / Salminen, Lauren E / Thomopoulos, Sophia I / Bright, Joanna / Baune, Bernhard T / Bertolín, Sara / Bralten, Janita / Bruin, Willem B / Bülow, Robin / Chen, Jian / Chye, Yann / Dannlowski, Udo / de Kovel, Carolien G F / Donohoe, Gary / Eyler, Lisa T / Faraone, Stephen V / Favre, Pauline /
    Filippi, Courtney A / Frodl, Thomas / Garijo, Daniel / Gil, Yolanda / Grabe, Hans J / Grasby, Katrina L / Hajek, Tomas / Han, Laura K M / Hatton, Sean N / Hilbert, Kevin / Ho, Tiffany C / Holleran, Laurena / Homuth, Georg / Hosten, Norbert / Houenou, Josselin / Ivanov, Iliyan / Jia, Tianye / Kelly, Sinead / Klein, Marieke / Kwon, Jun Soo / Laansma, Max A / Leerssen, Jeanne / Lueken, Ulrike / Nunes, Abraham / Neill, Joseph O' / Opel, Nils / Piras, Fabrizio / Piras, Federica / Postema, Merel C / Pozzi, Elena / Shatokhina, Natalia / Soriano-Mas, Carles / Spalletta, Gianfranco / Sun, Daqiang / Teumer, Alexander / Tilot, Amanda K / Tozzi, Leonardo / van der Merwe, Celia / Van Someren, Eus J W / van Wingen, Guido A / Völzke, Henry / Walton, Esther / Wang, Lei / Winkler, Anderson M / Wittfeld, Katharina / Wright, Margaret J / Yun, Je-Yeon / Zhang, Guohao / Zhang-James, Yanli / Adhikari, Bhim M / Agartz, Ingrid / Aghajani, Moji / Aleman, André / Althoff, Robert R / Altmann, Andre / Andreassen, Ole A / Baron, David A / Bartnik-Olson, Brenda L / Marie Bas-Hoogendam, Janna / Baskin-Sommers, Arielle R / Bearden, Carrie E / Berner, Laura A / Boedhoe, Premika S W / Brouwer, Rachel M / Buitelaar, Jan K / Caeyenberghs, Karen / Cecil, Charlotte A M / Cohen, Ronald A / Cole, James H / Conrod, Patricia J / De Brito, Stephane A / de Zwarte, Sonja M C / Dennis, Emily L / Desrivieres, Sylvane / Dima, Danai / Ehrlich, Stefan / Esopenko, Carrie / Fairchild, Graeme / Fisher, Simon E / Fouche, Jean-Paul / Francks, Clyde / Frangou, Sophia / Franke, Barbara / Garavan, Hugh P / Glahn, David C / Groenewold, Nynke A / Gurholt, Tiril P / Gutman, Boris A / Hahn, Tim / Harding, Ian H / Hernaus, Dennis / Hibar, Derrek P / Hillary, Frank G / Hoogman, Martine / Hulshoff Pol, Hilleke E / Jalbrzikowski, Maria / Karkashadze, George A / Klapwijk, Eduard T / Knickmeyer, Rebecca C / Kochunov, Peter / Koerte, Inga K / Kong, Xiang-Zhen / Liew, Sook-Lei / Lin, Alexander P / Logue, Mark W / Luders, Eileen / Macciardi, Fabio / Mackey, Scott / Mayer, Andrew R / McDonald, Carrie R / McMahon, Agnes B / Medland, Sarah E / Modinos, Gemma / Morey, Rajendra A / Mueller, Sven C / Mukherjee, Pratik / Namazova-Baranova, Leyla / Nir, Talia M / Olsen, Alexander / Paschou, Peristera / Pine, Daniel S / Pizzagalli, Fabrizio / Rentería, Miguel E / Rohrer, Jonathan D / Sämann, Philipp G / Schmaal, Lianne / Schumann, Gunter / Shiroishi, Mark S / Sisodiya, Sanjay M / Smit, Dirk J A / Sønderby, Ida E / Stein, Dan J / Stein, Jason L / Tahmasian, Masoud / Tate, David F / Turner, Jessica A / van den Heuvel, Odile A / van der Wee, Nic J A / van der Werf, Ysbrand D / van Erp, Theo G M / van Haren, Neeltje E M / van Rooij, Daan / van Velzen, Laura S / Veer, Ilya M / Veltman, Dick J / Villalon-Reina, Julio E / Walter, Henrik / Whelan, Christopher D / Wilde, Elisabeth A / Zarei, Mojtaba / Zelman, Vladimir

    Translational psychiatry

    2020  Volume 10, Issue 1, Page(s) 100

    Abstract: This review summarizes the last decade of work by the ENIGMA (Enhancing NeuroImaging Genetics through Meta Analysis) Consortium, a global alliance of over 1400 scientists across 43 countries, studying the human brain in health and disease. Building on ... ...

    Abstract This review summarizes the last decade of work by the ENIGMA (Enhancing NeuroImaging Genetics through Meta Analysis) Consortium, a global alliance of over 1400 scientists across 43 countries, studying the human brain in health and disease. Building on large-scale genetic studies that discovered the first robustly replicated genetic loci associated with brain metrics, ENIGMA has diversified into over 50 working groups (WGs), pooling worldwide data and expertise to answer fundamental questions in neuroscience, psychiatry, neurology, and genetics. Most ENIGMA WGs focus on specific psychiatric and neurological conditions, other WGs study normal variation due to sex and gender differences, or development and aging; still other WGs develop methodological pipelines and tools to facilitate harmonized analyses of "big data" (i.e., genetic and epigenetic data, multimodal MRI, and electroencephalography data). These international efforts have yielded the largest neuroimaging studies to date in schizophrenia, bipolar disorder, major depressive disorder, post-traumatic stress disorder, substance use disorders, obsessive-compulsive disorder, attention-deficit/hyperactivity disorder, autism spectrum disorders, epilepsy, and 22q11.2 deletion syndrome. More recent ENIGMA WGs have formed to study anxiety disorders, suicidal thoughts and behavior, sleep and insomnia, eating disorders, irritability, brain injury, antisocial personality and conduct disorder, and dissociative identity disorder. Here, we summarize the first decade of ENIGMA's activities and ongoing projects, and describe the successes and challenges encountered along the way. We highlight the advantages of collaborative large-scale coordinated data analyses for testing reproducibility and robustness of findings, offering the opportunity to identify brain systems involved in clinical syndromes across diverse samples and associated genetic, environmental, demographic, cognitive, and psychosocial factors.
    MeSH term(s) Brain/diagnostic imaging ; Depressive Disorder, Major/genetics ; Humans ; Magnetic Resonance Imaging ; Neuroimaging ; Reproducibility of Results
    Language English
    Publishing date 2020-03-20
    Publishing country United States
    Document type Journal Article ; Meta-Analysis ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2609311-X
    ISSN 2158-3188 ; 2158-3188
    ISSN (online) 2158-3188
    ISSN 2158-3188
    DOI 10.1038/s41398-020-0705-1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: The genetic architecture of the human cerebral cortex.

    Grasby, Katrina L / Jahanshad, Neda / Painter, Jodie N / Colodro-Conde, Lucía / Bralten, Janita / Hibar, Derrek P / Lind, Penelope A / Pizzagalli, Fabrizio / Ching, Christopher R K / McMahon, Mary Agnes B / Shatokhina, Natalia / Zsembik, Leo C P / Thomopoulos, Sophia I / Zhu, Alyssa H / Strike, Lachlan T / Agartz, Ingrid / Alhusaini, Saud / Almeida, Marcio A A / Alnæs, Dag /
    Amlien, Inge K / Andersson, Micael / Ard, Tyler / Armstrong, Nicola J / Ashley-Koch, Allison / Atkins, Joshua R / Bernard, Manon / Brouwer, Rachel M / Buimer, Elizabeth E L / Bülow, Robin / Bürger, Christian / Cannon, Dara M / Chakravarty, Mallar / Chen, Qiang / Cheung, Joshua W / Couvy-Duchesne, Baptiste / Dale, Anders M / Dalvie, Shareefa / de Araujo, Tânia K / de Zubicaray, Greig I / de Zwarte, Sonja M C / den Braber, Anouk / Doan, Nhat Trung / Dohm, Katharina / Ehrlich, Stefan / Engelbrecht, Hannah-Ruth / Erk, Susanne / Fan, Chun Chieh / Fedko, Iryna O / Foley, Sonya F / Ford, Judith M / Fukunaga, Masaki / Garrett, Melanie E / Ge, Tian / Giddaluru, Sudheer / Goldman, Aaron L / Green, Melissa J / Groenewold, Nynke A / Grotegerd, Dominik / Gurholt, Tiril P / Gutman, Boris A / Hansell, Narelle K / Harris, Mathew A / Harrison, Marc B / Haswell, Courtney C / Hauser, Michael / Herms, Stefan / Heslenfeld, Dirk J / Ho, New Fei / Hoehn, David / Hoffmann, Per / Holleran, Laurena / Hoogman, Martine / Hottenga, Jouke-Jan / Ikeda, Masashi / Janowitz, Deborah / Jansen, Iris E / Jia, Tianye / Jockwitz, Christiane / Kanai, Ryota / Karama, Sherif / Kasperaviciute, Dalia / Kaufmann, Tobias / Kelly, Sinead / Kikuchi, Masataka / Klein, Marieke / Knapp, Michael / Knodt, Annchen R / Krämer, Bernd / Lam, Max / Lancaster, Thomas M / Lee, Phil H / Lett, Tristram A / Lewis, Lindsay B / Lopes-Cendes, Iscia / Luciano, Michelle / Macciardi, Fabio / Marquand, Andre F / Mathias, Samuel R / Melzer, Tracy R / Milaneschi, Yuri / Mirza-Schreiber, Nazanin / Moreira, Jose C V / Mühleisen, Thomas W / Müller-Myhsok, Bertram / Najt, Pablo / Nakahara, Soichiro / Nho, Kwangsik / Olde Loohuis, Loes M / Orfanos, Dimitri Papadopoulos / Pearson, John F / Pitcher, Toni L / Pütz, Benno / Quidé, Yann / Ragothaman, Anjanibhargavi / Rashid, Faisal M / Reay, William R / Redlich, Ronny / Reinbold, Céline S / Repple, Jonathan / Richard, Geneviève / Riedel, Brandalyn C / Risacher, Shannon L / Rocha, Cristiane S / Mota, Nina Roth / Salminen, Lauren / Saremi, Arvin / Saykin, Andrew J / Schlag, Fenja / Schmaal, Lianne / Schofield, Peter R / Secolin, Rodrigo / Shapland, Chin Yang / Shen, Li / Shin, Jean / Shumskaya, Elena / Sønderby, Ida E / Sprooten, Emma / Tansey, Katherine E / Teumer, Alexander / Thalamuthu, Anbupalam / Tordesillas-Gutiérrez, Diana / Turner, Jessica A / Uhlmann, Anne / Vallerga, Costanza Ludovica / van der Meer, Dennis / van Donkelaar, Marjolein M J / van Eijk, Liza / van Erp, Theo G M / van Haren, Neeltje E M / van Rooij, Daan / van Tol, Marie-José / Veldink, Jan H / Verhoef, Ellen / Walton, Esther / Wang, Mingyuan / Wang, Yunpeng / Wardlaw, Joanna M / Wen, Wei / Westlye, Lars T / Whelan, Christopher D / Witt, Stephanie H / Wittfeld, Katharina / Wolf, Christiane / Wolfers, Thomas / Wu, Jing Qin / Yasuda, Clarissa L / Zaremba, Dario / Zhang, Zuo / Zwiers, Marcel P / Artiges, Eric / Assareh, Amelia A / Ayesa-Arriola, Rosa / Belger, Aysenil / Brandt, Christine L / Brown, Gregory G / Cichon, Sven / Curran, Joanne E / Davies, Gareth E / Degenhardt, Franziska / Dennis, Michelle F / Dietsche, Bruno / Djurovic, Srdjan / Doherty, Colin P / Espiritu, Ryan / Garijo, Daniel / Gil, Yolanda / Gowland, Penny A / Green, Robert C / Häusler, Alexander N / Heindel, Walter / Ho, Beng-Choon / Hoffmann, Wolfgang U / Holsboer, Florian / Homuth, Georg / Hosten, Norbert / Jack, Clifford R / Jang, MiHyun / Jansen, Andreas / Kimbrel, Nathan A / Kolskår, Knut / Koops, Sanne / Krug, Axel / Lim, Kelvin O / Luykx, Jurjen J / Mathalon, Daniel H / Mather, Karen A / Mattay, Venkata S / Matthews, Sarah / Mayoral Van Son, Jaqueline / McEwen, Sarah C / Melle, Ingrid / Morris, Derek W / Mueller, Bryon A / Nauck, Matthias / Nordvik, Jan E / Nöthen, Markus M / O'Leary, Daniel S / Opel, Nils / Martinot, Marie-Laure Paillère / Pike, G Bruce / Preda, Adrian / Quinlan, Erin B / Rasser, Paul E / Ratnakar, Varun / Reppermund, Simone / Steen, Vidar M / Tooney, Paul A / Torres, Fábio R / Veltman, Dick J / Voyvodic, James T / Whelan, Robert / White, Tonya / Yamamori, Hidenaga / Adams, Hieab H H / Bis, Joshua C / Debette, Stephanie / Decarli, Charles / Fornage, Myriam / Gudnason, Vilmundur / Hofer, Edith / Ikram, M Arfan / Launer, Lenore / Longstreth, W T / Lopez, Oscar L / Mazoyer, Bernard / Mosley, Thomas H / Roshchupkin, Gennady V / Satizabal, Claudia L / Schmidt, Reinhold / Seshadri, Sudha / Yang, Qiong / Alvim, Marina K M / Ames, David / Anderson, Tim J / Andreassen, Ole A / Arias-Vasquez, Alejandro / Bastin, Mark E / Baune, Bernhard T / Beckham, Jean C / Blangero, John / Boomsma, Dorret I / Brodaty, Henry / Brunner, Han G / Buckner, Randy L / Buitelaar, Jan K / Bustillo, Juan R / Cahn, Wiepke / Cairns, Murray J / Calhoun, Vince / Carr, Vaughan J / Caseras, Xavier / Caspers, Svenja / Cavalleri, Gianpiero L / Cendes, Fernando / Corvin, Aiden / Crespo-Facorro, Benedicto / Dalrymple-Alford, John C / Dannlowski, Udo / de Geus, Eco J C / Deary, Ian J / Delanty, Norman / Depondt, Chantal / Desrivières, Sylvane / Donohoe, Gary / Espeseth, Thomas / Fernández, Guillén / Fisher, Simon E / Flor, Herta / Forstner, Andreas J / Francks, Clyde / Franke, Barbara / Glahn, David C / Gollub, Randy L / Grabe, Hans J / Gruber, Oliver / Håberg, Asta K / Hariri, Ahmad R / Hartman, Catharina A / Hashimoto, Ryota / Heinz, Andreas / Henskens, Frans A / Hillegers, Manon H J / Hoekstra, Pieter J / Holmes, Avram J / Hong, L Elliot / Hopkins, William D / Hulshoff Pol, Hilleke E / Jernigan, Terry L / Jönsson, Erik G / Kahn, René S / Kennedy, Martin A / Kircher, Tilo T J / Kochunov, Peter / Kwok, John B J / Le Hellard, Stephanie / Loughland, Carmel M / Martin, Nicholas G / Martinot, Jean-Luc / McDonald, Colm / McMahon, Katie L / Meyer-Lindenberg, Andreas / Michie, Patricia T / Morey, Rajendra A / Mowry, Bryan / Nyberg, Lars / Oosterlaan, Jaap / Ophoff, Roel A / Pantelis, Christos / Paus, Tomas / Pausova, Zdenka / Penninx, Brenda W J H / Polderman, Tinca J C / Posthuma, Danielle / Rietschel, Marcella / Roffman, Joshua L / Rowland, Laura M / Sachdev, Perminder S / Sämann, Philipp G / Schall, Ulrich / Schumann, Gunter / Scott, Rodney J / Sim, Kang / Sisodiya, Sanjay M / Smoller, Jordan W / Sommer, Iris E / St Pourcain, Beate / Stein, Dan J / Toga, Arthur W / Trollor, Julian N / Van der Wee, Nic J A / van 't Ent, Dennis / Völzke, Henry / Walter, Henrik / Weber, Bernd / Weinberger, Daniel R / Wright, Margaret J / Zhou, Juan / Stein, Jason L / Thompson, Paul M / Medland, Sarah E

    Science (New York, N.Y.)

    2020  Volume 367, Issue 6484

    Abstract: The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide ... ...

    Abstract The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson's disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder.
    MeSH term(s) Attention Deficit Disorder with Hyperactivity/genetics ; Brain Mapping ; Cerebral Cortex/anatomy & histology ; Cognition ; Genetic Loci ; Genetic Variation ; Genome-Wide Association Study ; Humans ; Magnetic Resonance Imaging ; Organ Size/genetics ; Parkinson Disease/genetics
    Language English
    Publishing date 2020-03-19
    Publishing country United States
    Document type Journal Article ; Meta-Analysis ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
    ZDB-ID 128410-1
    ISSN 1095-9203 ; 0036-8075
    ISSN (online) 1095-9203
    ISSN 0036-8075
    DOI 10.1126/science.aay6690
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Genetic architecture of subcortical brain structures in 38,851 individuals.

    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 / 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 / Schmidt, Helena / Strike, Lachlan T / Cheng, Ching-Yu / Risacher, Shannon L / Pütz, 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 / Kharabian Masouleh, Shahrzad / 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 / Sämann, 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 / Valdés Hernández, Maria C / Hansell, Narelle K / van Erp, Theo G M / Wolf, Christiane / Kwok, John B J / Vellas, Bruno / Heinz, Andreas / Olde Loohuis, Loes M / 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 / Hulshoff Pol, Hilleke E / Lin, Honghuang / Jack, Clifford R / Schofield, Peter R / Mühleisen, Thomas W / Maillard, Pauline / Potkin, Steven G / Wen, Wei / Fletcher, Evan / Toga, Arthur W / Gruber, Oliver / Huentelman, Matthew / Davey Smith, George / Launer, Lenore J / Nyberg, Lars / Jönsson, Erik G / Crespo-Facorro, Benedicto / Koen, Nastassja / Greve, Douglas N / Uitterlinden, André G / Weinberger, Daniel R / Steen, Vidar M / Fedko, Iryna O / Groenewold, Nynke A / Niessen, Wiro J / Toro, Roberto / Tzourio, Christophe / Longstreth, William T / Ikram, M Kamran / Smoller, Jordan W / van Tol, Marie-Jose / Sussmann, Jessika E / Paus, Tomas / Lemaître, Hervé / 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 / Müller-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, René S / Sisodiya, Sanjay M / White, Tonya / Saremi, Arvin / van Bokhoven, Hans / Brunner, Han G / Völzke, Henry / Wright, Margaret J / van 't Ent, Dennis / Nöthen, Markus M / Ophoff, Roel A / Buitelaar, Jan K / Fernández, Guillén / 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, Stéphanie / Gudnason, Vilmundur / Medland, Sarah E / Shulman, Joshua M / Thompson, Paul M / Seshadri, Sudha / Ikram, M Arfan

    Nature genetics

    2019  Volume 51, Issue 11, Page(s) 1624–1636

    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, ...

    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.
    MeSH term(s) Adult ; Aged ; Animals ; Brain/anatomy & histology ; Brain/metabolism ; Cohort Studies ; Drosophila melanogaster/genetics ; Drosophila melanogaster/growth & development ; Drosophila melanogaster/metabolism ; Genetic Variation ; Genome-Wide Association Study ; Humans ; Magnetic Resonance Imaging ; Middle Aged ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/pathology ; Organ Size
    Language English
    Publishing date 2019-10-21
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1108734-1
    ISSN 1546-1718 ; 1061-4036
    ISSN (online) 1546-1718
    ISSN 1061-4036
    DOI 10.1038/s41588-019-0511-y
    Database MEDical Literature Analysis and Retrieval System OnLINE

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