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1. A compact approach to higher-resolution resonant inelastic X-ray scattering detection using photoelectrons

Author

Schunck, Jan O., Buck, Jens, Engel, Robin Y., Kruse, Simon R., Marotzke, Simon, Scholz, Markus, Mahatha, Sanjoy K., Huang, Meng-Jie, Rønnow, Henrik M., Dakovski, Georgi, Hoesch, Moritz, Kalläne, Matthias, Rossnagel, Kai, and Beye, Martin

Subjects
Condensed Matter - Materials Science, Condensed Matter - Superconductivity
Abstract

The detection of inelastically scattered soft X-rays with high energy resolution usually requires large grating spectrometers. Recently, photoelectron spectrometry for analysis of X-rays (PAX) has been rediscovered for modern spectroscopy experiments at synchrotron light sources. By converting scattered photons to electrons and using an electron energy analyser, the energy resolution for resonant inelastic X-ray scattering (RIXS) becomes decoupled from the X-ray spot size and instrument length. In this work, we develop PAX towards high energy resolution using a modern photoemission spectroscopy setup studying Ba2Cu3O4Cl2 at the Cu L3-edge. We measure a momentum transfer range of 24% of the first Brillouin zone simultaneously. Our results hint at the observation of a magnon excitation below 100 meV energy transfer and show intensity variations related to the dispersion of dd-excitations. With dedicated setups, PAX can become an alternative to the best and largest RIXS instruments, while at the same time opening new opportunities to acquire RIXS at a range of momentum transfers simultaneously and combine it with angle-resolved photoemission spectroscopy in a single instrument.

Published
2024
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2. 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, Biotechnology, Genetics, Stem Cell Research, Neurosciences, Human Genome, Cancer, 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. Operationalizing Assurance Cases for Data Scientists: A Showcase of Concepts and Tooling in the Context of Test Data Quality for Machine Learning

Author

Jöckel, Lisa, Kläs, Michael, Groß, Janek, Gerber, Pascal, Scholz, Markus, Eberle, Jonathan, Teschner, Marc, Seifert, Daniel, Hawkins, Richard, Molloy, John, and Ottnad, Jens

Subjects
Computer Science - Software Engineering, Computer Science - Artificial Intelligence, Computer Science - Machine Learning
Abstract

Assurance Cases (ACs) are an established approach in safety engineering to argue quality claims in a structured way. In the context of quality assurance for Machine Learning (ML)-based software components, ACs are also being discussed and appear promising. Tools for operationalizing ACs do exist, yet mainly focus on supporting safety engineers on the system level. However, assuring the quality of an ML component within the system is commonly the responsibility of data scientists, who are usually less familiar with these tools. To address this gap, we propose a framework to support the operationalization of ACs for ML components based on technologies that data scientists use on a daily basis: Python and Jupyter Notebook. Our aim is to make the process of creating ML-related evidence in ACs more effective. Results from the application of the framework, documented through notebooks, can be integrated into existing AC tools. We illustrate the application of the framework on an example excerpt concerned with the quality of the test data., Comment: Accepted for publication at International Conference on Product-Focused Software Process Improvement (Profes 2023), https://conf.researchr.org/home/profes-2023

Published
2023
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4. X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements.

Author

Scholz, Markus, Horn, Katrin, Pott, Janne, Wuttke, Matthias, Kühnapfel, Andreas, Nasr, M, Kirsten, Holger, Li, Yong, Hoppmann, Anselm, Gorski, Mathias, Ghasemi, Sahar, Li, Man, Tin, Adrienne, Chai, Jin-Fang, Cocca, Massimiliano, Wang, Judy, Nutile, Teresa, Akiyama, Masato, Åsvold, Bjørn, Bansal, Nisha, Biggs, Mary, Boutin, Thibaud, Brenner, Hermann, Brumpton, Ben, Burkhardt, Ralph, Cai, Jianwen, Campbell, Archie, Campbell, Harry, Chalmers, John, Chasman, Daniel, Chee, Miao, Chen, Xu, Cheng, Ching-Yu, Cifkova, Renata, Daviglus, Martha, Delgado, Graciela, Dittrich, Katalin, Edwards, Todd, Endlich, Karlhans, Michael Gaziano, J, Giri, Ayush, Giulianini, Franco, Gordon, Scott, Gudbjartsson, Daniel, Hallan, Stein, Hamet, Pavel, Hartman, Catharina, Hayward, Caroline, Heid, Iris, Hellwege, Jacklyn, Holleczek, Bernd, Holm, Hilma, Hutri-Kähönen, Nina, Hveem, Kristian, Isermann, Berend, Jonas, Jost, Joshi, Peter, Kamatani, Yoichiro, Kanai, Masahiro, Kastarinen, Mika, Khor, Chiea, Kiess, Wieland, Kleber, Marcus, Körner, Antje, Kovacs, Peter, Krajcoviechova, Alena, Kramer, Holly, Krämer, Bernhard, Kuokkanen, Mikko, Kähönen, Mika, Lange, Leslie, Lash, James, Lehtimäki, Terho, Li, Hengtong, Lin, Bridget, Liu, Jianjun, Loeffler, Markus, Lyytikäinen, Leo-Pekka, Magnusson, Patrik, Martin, Nicholas, Matsuda, Koichi, Milaneschi, Yuri, Mishra, Pashupati, Mononen, Nina, Montgomery, Grant, Mook-Kanamori, Dennis, Mychaleckyj, Josyf, März, Winfried, Nauck, Matthias, Nikus, Kjell, Nolte, Ilja, Noordam, Raymond, Okada, Yukinori, Olafsson, Isleifur, Oldehinkel, Albertine, Penninx, Brenda, Perola, Markus, Pirastu, Nicola, and Polasek, Ozren

Subjects
Humans, Male, Female, Androgens, Genome-Wide Association Study, Kidney, Chromosomes, Human, X, Response Elements, Polymorphism, Single Nucleotide, Genetic Predisposition to Disease, Tetraspanins
Abstract

X-chromosomal genetic variants are understudied but can yield valuable insights into sexually dimorphic human traits and diseases. We performed a sex-stratified cross-ancestry X-chromosome-wide association meta-analysis of seven kidney-related traits (n = 908,697), identifying 23 loci genome-wide significantly associated with two of the traits: 7 for uric acid and 16 for estimated glomerular filtration rate (eGFR), including four novel eGFR loci containing the functionally plausible prioritized genes ACSL4, CLDN2, TSPAN6 and the female-specific DRP2. Further, we identified five novel sex-interactions, comprising male-specific effects at FAM9B and AR/EDA2R, and three sex-differential findings with larger genetic effect sizes in males at DCAF12L1 and MST4 and larger effect sizes in females at HPRT1. All prioritized genes in loci showing significant sex-interactions were located next to androgen response elements (ARE). Five ARE genes showed sex-differential expressions. This study contributes new insights into sex-dimorphisms of kidney traits along with new prioritized gene targets for further molecular research.

Published
2024

5. Genetic risk factors underlying white matter hyperintensities and cortical atrophy

Author

Patel, Yash, Shin, Jean, Sliz, Eeva, Tang, Ariana, Mishra, Aniket, Xia, Rui, Hofer, Edith, Rajula, Hema Sekhar Reddy, Wang, Ruiqi, Beyer, Frauke, Horn, Katrin, Riedl, Max, Yu, Jing, Völzke, Henry, Bülow, Robin, Völker, Uwe, Frenzel, Stefan, Wittfeld, Katharina, Van der Auwera, Sandra, Mosley, Thomas H., Bouteloup, Vincent, Lambert, Jean-Charles, Chêne, Geneviève, Dufouil, Carole, Tzourio, Christophe, Mangin, Jean-François, Gottesman, Rebecca F., Fornage, Myriam, Schmidt, Reinhold, Yang, Qiong, Witte, Veronica, Scholz, Markus, Loeffler, Markus, Roshchupkin, Gennady V., Ikram, M. Arfan, Grabe, Hans J., Seshadri, Sudha, Debette, Stephanie, Paus, Tomas, and Pausova, Zdenka

Published
2024
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6. Development of a long noncoding RNA-based machine learning model to predict COVID-19 in-hospital mortality

Author

Devaux, Yvan, Zhang, Lu, Lumley, Andrew I., Karaduzovic-Hadziabdic, Kanita, Mooser, Vincent, Rousseau, Simon, Shoaib, Muhammad, Satagopam, Venkata, Adilovic, Muhamed, Srivastava, Prashant Kumar, Emanueli, Costanza, Martelli, Fabio, Greco, Simona, Badimon, Lina, Padro, Teresa, Lustrek, Mitja, Scholz, Markus, Rosolowski, Maciej, Jordan, Marko, Brandenburger, Timo, Benczik, Bettina, Agg, Bence, Ferdinandy, Peter, Vehreschild, Jörg Janne, Lorenz-Depiereux, Bettina, Dörr, Marcus, Witzke, Oliver, Sanchez, Gabriel, Kul, Seval, Baker, Andy H., Fagherazzi, Guy, Ollert, Markus, Wereski, Ryan, Mills, Nicholas L., and Firat, Hüseyin

Published
2024
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8. Sex and statin-related genetic associations at the PCSK9 gene locus: results of genome-wide association meta-analysis

Author

Pott, Janne, Kheirkhah, Azin, Gadin, Jesper R., Kleber, Marcus E., Delgado, Graciela E., Kirsten, Holger, Forer, Lukas, Hauck, Stefanie M., Burkhardt, Ralph, Scharnagl, Hubert, Loeffler, Markus, März, Winfried, Thiery, Joachim, Gieger, Christian, Peters, Annette, Silveira, Angela, Hooft, Ferdinand van’t, Kronenberg, Florian, and Scholz, Markus

Published
2024
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9. Ultrafast Bragg coherent diffraction imaging of epitaxial thin films using deep complex-valued neural networks

Author

Yu, Xi, Wu, Longlong, Lin, Yuewei, Diao, Jiecheng, Liu, Jialun, Hallmann, Jörg, Boesenberg, Ulrike, Lu, Wei, Möller, Johannes, Scholz, Markus, Zozulya, Alexey, Madsen, Anders, Assefa, Tadesse, Bozin, Emil S., Cao, Yue, You, Hoydoo, Sheyfer, Dina, Rosenkranz, Stephan, Marks, Samuel D., Evans, Paul G., Keen, David A., He, Xi, Božović, Ivan, Dean, Mark P. M., Yoo, Shinjae, and Robinson, Ian K.

Published
2024
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11. New insights into the laser-assisted photoelectric effect from solid-state surfaces

Author

Wenthaus, Lukas, Kabachnik, Nikolay M., Borgwardt, Mario, Palutke, Steffen, Kutnyakhov, Dmytro, Pressacco, Federico, Scholz, Markus, Potorochin, Dmitrii, Wind, Nils, Düsterer, Stefan, Brenner, Günter, Gessner, Oliver, Molodtsov, Serguei, Eberhardt, Wolfgang, and Roth, Friedrich

Subjects
Condensed Matter - Materials Science, Physics - Applied Physics
Abstract

Photoemission from a solid surface provides a wealth of information about the electronic structure of the surface and its dynamic evolution. Ultrafast pump-probe experiments are particularly useful to study the dynamic interactions of photons with surfaces as well as the ensuing electron dynamics induced by these interactions. Time-resolved laser-assisted photoemission (tr-LAPE) from surfaces is a novel technique to gain deeper understanding of the fundamentals underlying the photoemission process. Here, we present the results of a femtosecond time-resolved soft X-ray photoelectron spectroscopy experiment on two different metal surfaces conducted at the X-ray Free-Electron Laser FLASH in Hamburg. We study photoemission from the W 4f and Pt 4f core levels using ultrashort soft X-ray pulses in combination with synchronized infrared (IR) laser pulses. When both pulses overlap in time and space, laser-assisted photoemission results in the formation of a series of sidebands that reflect the dynamics of the laser-surface interaction. We demonstrate a qualitatively new level of sideband generation up to the sixth order and a surprising material dependence of the number of sidebands that has so far not been predicted by theory. We provide a semi-quantitative explanation of this phenomenon based on the different dynamic dielectric responses of the two materials. Our results advance the understanding of the LAPE process and reveal new details of the IR field present in the surface region, which is determined by the dynamic interplay between the IR laser field and the dielectric response of the metal surfaces., Comment: 18 pages, 3 figures

Published
2023

12. Out-of-equilibrium charge redistribution in a copper-oxide based superconductor by time-resolved X-ray photoelectron spectroscopy

Author

Puntel, Denny, Kutnyakhov, Dmytro, Wenthaus, Lukas, Scholz, Markus, Wind, Nils O., Heber, Michael, Brenner, Günter, Gu, Genda, Cava, Robert J., Bronsch, Wibke, Cilento, Federico, Parmigiani, Fulvio, and Pressacco, Federico

Subjects
Condensed Matter - Strongly Correlated Electrons, Condensed Matter - Superconductivity
Abstract

Charge-transfer excitations are of paramount importance for understanding the electronic structure of copper-oxide based high-temperature superconductors. In this study, we investigate the response of a Bi$_2$Sr$_2$CaCu$_2$O$_{\mathrm{8}+ \delta}$ crystal to the charge redistribution induced by an infrared ultrashort pulse. Element-selective time-resolved core-level photoelectron spectroscopy with a high energy resolution allows disentangling the dynamics of oxygen ions with different coordination and bonds thanks to their different chemical shifts. Our experiment shows that the O\,$1s$ component arising from the Cu-O planes is significantly perturbed by the infrared light pulse. Conversely, the apical oxygen, also coordinated with Sr ions in the Sr-O planes, remains unaffected. This result highlights the peculiar behavior of the electronic structure of the Cu-O planes. It also unlocks the way to study the out-of-equilibrium electronic structure of copper-oxide-based high-temperature superconductors by identifying the O\,$1s$ core-level emission originating from the oxygen ions in the Cu-O planes. This ability could be critical to gain information about the strongly-correlated electron ultrafast dynamical mechanisms in the Cu-O plane in the normal and superconducting phases.

Published
2023

13. Multiplex movie of concerted rotation of molecules on a 2D material

Author

Baumgärtner, Kiana, Nozaki, Misa, Reuner, Marvin, Wind, Nils, Haniuda, Masato, Metzger, Christian, Heber, Michael, Kutnyakhov, Dmytro, Pressacco, Federico, Wenthaus, Lukas, Hara, Keisuke, Min, Chul-Hee, Beye, Martin, Reinert, Friedrich, Roth, Friedrich, Mahatha, Sanjoy Kr, Madsen, Anders, Wehling, Tim, Niki, Kaori, Popova-Gorelova, Daria, Rossnagel, Kai, and Scholz, Markus

Subjects
Condensed Matter - Materials Science
Abstract

Function is dynamic and originates at atomic interfaces. Combining the degrees of freedom of molecules with the peculiar properties of 2D quantum materials can create novel functionality. Here, we report the manipulation and ultrafast imaging of a unidirectional gearing motion in molecules on a 2D quantum material. To visualize and disentangle the intertwined structural and electronic dynamics of such a hybrid interface, we record a 'full molecular movie' by imaging the atomic positions, the evolution of the molecular orbital wavefunctions and the modification of electronic states of the substrate. In a multimodal investigation in a single setup, we disentangle dynamics in valence and core electrons of both the molecule and the surface with femtosecond and sub-{\aa}ngstr\"om precision. The ultrafast rotational motion is fueled by the transfer of hot holes into the molecules that results in 'supercharging' of the film. As hot carriers move through the interface, we track a transient modification of the frontier molecular orbitals and observe a chiral symmetry breaking associated with local structural rearrangements. Our calculations show that the 'supercharging' changes the interfacial potential energy landscape and triggers the gearing motion. The experiment offers all-in-one imaging of the electronic, molecular orbital, chemical and structural dynamics during the flow of charge and energy across the hybrid interface. Our approach provides detailed dynamical information on the mechanism underlying surface-adsorbed molecular gears and enables tailoring novel functionalities in hybrid active matter., Comment: 19 pages, 6 figures

Published
2023
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14. Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake

Author

Williamson, Alice, Norris, Dougall M, Yin, Xianyong, Broadaway, K Alaine, Moxley, Anne H, Vadlamudi, Swarooparani, Wilson, Emma P, Jackson, Anne U, Ahuja, Vasudha, Andersen, Mette K, Arzumanyan, Zorayr, Bonnycastle, Lori L, Bornstein, Stefan R, Bretschneider, Maxi P, Buchanan, Thomas A, Chang, Yi-Cheng, Chuang, Lee-Ming, Chung, Ren-Hua, Clausen, Tine D, Damm, Peter, Delgado, Graciela E, de Mello, Vanessa D, Dupuis, Josée, Dwivedi, Om P, Erdos, Michael R, Silva, Lilian Fernandes, Frayling, Timothy M, Gieger, Christian, Goodarzi, Mark O, Guo, Xiuqing, Gustafsson, Stefan, Hakaste, Liisa, Hammar, Ulf, Hatem, Gad, Herrmann, Sandra, Højlund, Kurt, Horn, Katrin, Hsueh, Willa A, Hung, Yi-Jen, Hwu, Chii-Min, Jonsson, Anna, Kårhus, Line L, Kleber, Marcus E, Kovacs, Peter, Lakka, Timo A, Lauzon, Marie, Lee, I-Te, Lindgren, Cecilia M, Lindström, Jaana, Linneberg, Allan, Liu, Ching-Ti, Luan, Jian’an, Aly, Dina Mansour, Mathiesen, Elisabeth, Moissl, Angela P, Morris, Andrew P, Narisu, Narisu, Perakakis, Nikolaos, Peters, Annette, Prasad, Rashmi B, Rodionov, Roman N, Roll, Kathryn, Rundsten, Carsten F, Sarnowski, Chloé, Savonen, Kai, Scholz, Markus, Sharma, Sapna, Stinson, Sara E, Suleman, Sufyan, Tan, Jingyi, Taylor, Kent D, Uusitupa, Matti, Vistisen, Dorte, Witte, Daniel R, Walther, Romy, Wu, Peitao, Xiang, Anny H, Zethelius, Björn, Ahlqvist, Emma, Bergman, Richard N, Chen, Yii-Der Ida, Collins, Francis S, Fall, Tove, Florez, Jose C, Fritsche, Andreas, Grallert, Harald, Groop, Leif, Hansen, Torben, Koistinen, Heikki A, Komulainen, Pirjo, Laakso, Markku, Lind, Lars, Loeffler, Markus, März, Winfried, Meigs, James B, Raffel, Leslie J, Rauramaa, Rainer, Rotter, Jerome I, Schwarz, Peter EH, and Stumvoll, Michael

Subjects
Biochemistry and Cell Biology, Genetics, Biological Sciences, Diabetes, Clinical Research, Human Genome, Prevention, Nutrition, 2.1 Biological and endogenous factors, Aetiology, 5.1 Pharmaceuticals, Development of treatments and therapeutic interventions, Metabolic and endocrine, Humans, Insulin, Genome-Wide Association Study, Insulin Resistance, Diabetes Mellitus, Type 2, Glucose, Blood Glucose, Meta-Analysis of Glucose and Insulin-related Traits Consortium, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Distinct tissue-specific mechanisms mediate insulin action in fasting and postprandial states. Previous genetic studies have largely focused on insulin resistance in the fasting state, where hepatic insulin action dominates. Here we studied genetic variants influencing insulin levels measured 2 h after a glucose challenge in >55,000 participants from three ancestry groups. We identified ten new loci (P

Published
2023

15. A Rate Model of Electron Populations for Non-linear High-Fluence X-ray Absorption Near-Edge Spectra

Author

Engel, Robin Y., Scholz, Markus, Schunck, Jan O., and Beye, Martin

Subjects
Condensed Matter - Materials Science
Abstract

Absorbing a focused, femtosecond X-ray pulse from a Free-Electron Laser (FEL) can lead to extreme electronic excitations in solids. This excitation drives changes of the electronic system over the course of the pulse duration and the overall absorption of the pulse becomes fluence-dependent. Thus, fluence-dependent non-linear X-ray Absorption Near Edge Spectroscopy (XANES) is sensitive to the valence excitation dynamics around the Fermi level on the few-femtosecond timescale. Here we present a simplified rate model based on well-established physical mechanisms to describe the evolution of the electronic system. We construct temporal and spatial differentials for the processes of resonant absorption, stimulated emission, non-resonant absorption, Auger decay, valence band thermalization and scattering cascades of free electrons. The phenomenological rate model approach provides a direct understanding how each physical process contributes to the fluence-dependent changes observed in XANES measurements. Without accounting for fluence-dependent changes to the density of states, the model shows good agreement with experimental results on metallic nickel over more than three orders of magnitude in fluence, establishing electron redistribution as the main driver of non-linear absorption changes at high fluences. Although in the closest vicinity of the resonance, more complex approaches are necessary to describe remaining discrepancies of the fluence-dependence changes, the demonstrated capability to describe spectral changes up to extreme fluences yields fundamental insights into the complex dynamics after intense core excitation and provides an important tool for the design and evaluation of future FEL experiments, in particular for the development of non-linear X-ray spectroscopy., Comment: Total of 10 pages, 7 figures, 1 table. Also see the simulatneously submitted letter for a detailed report on the experiment and its interpretation. Changes to previous version: - Updated reference 32 to point to the simultaneously submitted arXiv article. - Amended a missing "+1" in the Fermi-Dirac distribution in section II.B.4

Published
2022
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16. Electron Dynamics at High-Energy Densities in Nickel from Non-linear Resonant X-ray Absorption Spectra

Author

Engel, Robin Y., Alexander, Oliver, Atak, Kaan, Bovensiepen, Uwe, Buck, Jens, Carley, Robert, Cascella, Michele, Chardonnet, Valentin, Chiuzbaian, Gheorghe Sorin, David, Christian, Döring, Florian, Eschenlohr, Andrea, Gerasimova, Natalia, de Groot, Frank, Guyader, Loïc Le, Humphries, Oliver S., Izquierdo, Manuel, Jal, Emmanuelle, Kubec, Adam, Laarmann, Tim, Lambert, Charles-Henri, Lüning, Jan, Marangos, Jonathan P., Mercadier, Laurent, Mercurio, Giuseppe, Miedema, Piter S., Ollefs, Katharina, Pfau, Bastian, Rösner, Benedikt, Rossnagel, Kai, Rothenbach, Nico, Scherz, Andreas, Schlappa, Justine, Scholz, Markus, Schunck, Jan O., Setoodehnia, Kiana, Stamm, Christian, Techert, Simone, Vinko, Sam M., Wende, Heiko, Yaroslavtsev, Alexander A., Yin, Zhong, and Beye, Martin

Subjects
Condensed Matter - Materials Science
Abstract

The pulse intensity from X-ray free-electron lasers (FELs) can create extreme excitation densities in solids, entering the regime of non-linear X-ray-matter interactions. We show L3-edge absorption spectra of metallic nickel thin films with fluences entering a regime where several X-ray photons are incident per absorption cross-section. Main features of the observed non-linear spectral changes are described with a predictive rate model for electron population dynamics during the pulse, utilizing a fixed density of states and tabulated ground-state properties., Comment: The main text contains 5 pages and 4 figures, the total length including supplement is 14 pages, 7 figures and one table. See also the simultaneously submitted paper about the rate model

Published
2022
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17. Genome-wide meta-analyses reveal novel loci for verbal short-term memory and learning

Author

Lahti, Jari, Tuominen, Samuli, Yang, Qiong, Pergola, Giulio, Ahmad, Shahzad, Amin, Najaf, Armstrong, Nicola J, Beiser, Alexa, Bey, Katharina, Bis, Joshua C, Boerwinkle, Eric, Bressler, Jan, Campbell, Archie, Campbell, Harry, Chen, Qiang, Corley, Janie, Cox, Simon R, Davies, Gail, De Jager, Philip L, Derks, Eske M, Faul, Jessica D, Fitzpatrick, Annette L, Fohner, Alison E, Ford, Ian, Fornage, Myriam, Gerring, Zachary, Grabe, Hans J, Grodstein, Francine, Gudnason, Vilmundur, Simonsick, Eleanor, Holliday, Elizabeth G, Joshi, Peter K, Kajantie, Eero, Kaprio, Jaakko, Karell, Pauliina, Kleineidam, Luca, Knol, Maria J, Kochan, Nicole A, Kwok, John B, Leber, Markus, Lam, Max, Lee, Teresa, Li, Shuo, Loukola, Anu, Luck, Tobias, Marioni, Riccardo E, Mather, Karen A, Medland, Sarah, Mirza, Saira S, Nalls, Mike A, Nho, Kwangsik, O’Donnell, Adrienne, Oldmeadow, Christopher, Painter, Jodie, Pattie, Alison, Reppermund, Simone, Risacher, Shannon L, Rose, Richard J, Sadashivaiah, Vijay, Scholz, Markus, Satizabal, Claudia L, Schofield, Peter W, Schraut, Katharina E, Scott, Rodney J, Simino, Jeannette, Smith, Albert V, Smith, Jennifer A, Stott, David J, Surakka, Ida, Teumer, Alexander, Thalamuthu, Anbupalam, Trompet, Stella, Turner, Stephen T, van der Lee, Sven J, Villringer, Arno, Völker, Uwe, Wilson, Robert S, Wittfeld, Katharina, Vuoksimaa, Eero, Xia, Rui, Yaffe, Kristine, Yu, Lei, Zare, Habil, Zhao, Wei, Ames, David, Attia, John, Bennett, David A, Brodaty, Henry, Chasman, Daniel I, Goldman, Aaron L, Hayward, Caroline, Ikram, M Arfan, Jukema, J Wouter, Kardia, Sharon LR, Lencz, Todd, Loeffler, Markus, Mattay, Venkata S, Palotie, Aarno, Psaty, Bruce M, and Ramirez, Alfredo

Subjects
Biological Psychology, Psychology, Genetics, Human Genome, Dementia, Behavioral and Social Science, Brain Disorders, Acquired Cognitive Impairment, Mental Health, Biotechnology, Aging, Clinical Research, Neurosciences, Basic Behavioral and Social Science, Aetiology, 2.1 Biological and endogenous factors, Neurological, Mental health, Memory, Short-Term, Learning, Verbal Learning, Multifactorial Inheritance, Brain, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Clinical sciences, Biological psychology, Clinical and health psychology
Abstract

Understanding the genomic basis of memory processes may help in combating neurodegenerative disorders. Hence, we examined the associations of common genetic variants with verbal short-term memory and verbal learning in adults without dementia or stroke (N = 53,637). We identified novel loci in the intronic region of CDH18, and at 13q21 and 3p21.1, as well as an expected signal in the APOE/APOC1/TOMM40 region. These results replicated in an independent sample. Functional and bioinformatic analyses supported many of these loci and further implicated POC1. We showed that polygenic score for verbal learning associated with brain activation in right parieto-occipital region during working memory task. Finally, we showed genetic correlations of these memory traits with several neurocognitive and health outcomes. Our findings suggest a role of several genomic loci in verbal memory processes.

Published
2022

18. Neural network-assisted humanisation of COVID-19 hamster transcriptomic data reveals matching severity states in human disease

Author

Friedrich, Vincent D., Pennitz, Peter, Wyler, Emanuel, Adler, Julia M., Postmus, Dylan, Müller, Kristina, Teixeira Alves, Luiz Gustavo, Prigann, Julia, Pott, Fabian, Vladimirova, Daria, Hoefler, Thomas, Goekeri, Cengiz, Landthaler, Markus, Goffinet, Christine, Saliba, Antoine-Emmanuel, Scholz, Markus, Witzenrath, Martin, Trimpert, Jakob, Kirsten, Holger, and Nouailles, Geraldine

Published
2024
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19. On the use of multilayer Laue lenses with X-ray Free Electron Lasers

Author

Prasciolu, Mauro, Murray, Kevin T., Ivanov, Nikolay, Fleckenstein, Holger, Domaracký, Martin, Gelisio, Luca, Trost, Fabian, Ayyer, Kartik, Krebs, Dietrich, Aplin, Steve, Awel, Salah, Boesenberg, Ulrike, Barty, Anton, Estillore, Armando D., Fuchs, Matthias, Gevorkov, Yaroslav, Hallmann, Joerg, Kim, Chan, Knoška, Juraj, Küpper, Jochen, Li, Chufeng, Lu, Wei, Mariani, Valerio, Morgan, Andrew J., Möller, Johannes, Madsen, Anders, Oberthür, Dominik, Murillo, Gisel E. Peña, Reis, David A., Scholz, Markus, Šarler, Božidar, Villanueva-Perez, Pablo, Yefanov, Oleksandr, Zielinski, Kara A., Zozulya, Alexey, Chapman, Henry N., and Bajt, Saša

Subjects
Physics - Accelerator Physics, Physics - Optics
Abstract

Multilayer Laue lenses were used for the first time to focus x-rays from an X-ray Free Electron Laser (XFEL). In an experiment, which was performed at the European XFEL, we demonstrated focusing to a spot size of a few tens of nanometers. A series of runs in which the number of pulses per train was increased from 1 to 2, 3, 4, 5, 6, 7, 10, 20 and 30 pulses per train, all with a pulse separation of 3.55 us, was done using the same set of lenses. The increase in the number of pulses per train was accompanied with an increase of x-ray intensity (transmission) from 9% to 92% at 5 pulses per train, and then the transmission was reduced to 23.5 % when the pulses were increased further. The final working condition was 30 pulses per train and 23.5% transmission. Only at this condition we saw that the diffraction efficiency of the MLLs changed over the course of a pulse train, and this variation was reproducible from train to train. We present the procedure to align and characterize these lenses and discuss challenges working with the pulse trains from this unique x-ray source.

Published
2022

20. Resolving molecular diffusion and aggregation of antibody proteins with megahertz X-ray free-electron laser pulses

Author

Reiser, Mario, Girelli, Anita, Ragulskaya, Anastasia, Das, Sudipta, Berkowicz, Sharon, Bin, Maddalena, Ladd-Parada, Marjorie, Filianina, Mariia, Poggemann, Hanna-Friederike, Begam, Nafisa, Akhundzadeh, Mohammad Sayed, Timmermann, Sonja, Randolph, Lisa, Chushkin, Yuriy, Seydel, Tilo, Boesenberg, Ulrike, Hallmann, Jörg, Möller, Johannes, Rodriguez-Fernandez, Angel, Rosca, Robert, Schaffer, Robert, Scholz, Markus, Shayduk, Roman, Zozulya, Alexey, Madsen, Anders, Schreiber, Frank, Zhang, Fajun, Perakis, Fivos, and Gutt, Christian

Subjects
Physics - Biological Physics, Condensed Matter - Soft Condensed Matter
Abstract

X-ray free-electron lasers (XFELs) with megahertz repetition rate can provide novel insights into structural dynamics of biological macromolecule solutions. However, very high dose rates can lead to beam-induced dynamics and structural changes due to radiation damage. Here, we probe the dynamics of dense antibody protein (Ig-PEG) solutions using megahertz X-ray photon correlation spectroscopy (MHz-XPCS) at the European XFEL. By varying the total dose and dose rate, we identify a regime for measuring the motion of proteins in their first coordination shell, quantify XFEL-induced effects such as driven motion, and map out the extent of agglomeration dynamics. The results indicate that for average dose rates below $1.06\,\mathrm{kGy}\mathrm{\mu s}^{-1}$ in a time window up to $10\,\mathrm{\mu s}$, it is possible to capture the protein dynamics before the onset of beam induced aggregation. We refer to this approach as correlation before aggregation and demonstrate that MHz-XPCS bridges an important spatio-temporal gap in measurement techniques for biological samples., Comment: 22 pages, 6 figures

Published
2022
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22. Genetic Regulation of Cytokine Response in Patients with Acute Community-acquired Pneumonia

Author

Kühnapfel, Andreas, Horn, Katrin, Klotz, Ulrike, Kiehntopf, Michael, Rosolowski, Maciej, Loeffler, Markus, Ahnert, Peter, Suttorp, Norbert, Witzenrath, Martin, and Scholz, Markus

Subjects
Quantitative Biology - Quantitative Methods, Statistics - Applications
Abstract

Background: Community-acquired pneumonia (CAP) is an acute disease condition with a high risk of rapid deteriorations. We analysed the influence of genetics on cytokine regulation to obtain a better understanding of patient's heterogeneity. Methods: For up to N=389 genotyped participants of the PROGRESS study of hospitalised CAP patients, we performed a genome-wide association study of ten cytokines IL-1b, IL-6, IL-8, IL-10, IL-12, MCP-1 (MCAF), MIP-1a (CCL3), VEGF, VCAM-1, and ICAM-1. Consecutive secondary analyses were performed to identify independent hits and corresponding causal variants. Results: 102 SNPs from 14 loci showed genome-wide significant associations with five of the cytokines. The most interesting associations were found at 6p21.1 for VEGF (p=1.58x10E-20), at 17q21.32 (p=1.51x10E-9) and at 10p12.1 (p=2.76x10E-9) for IL-1b, at 10p13 for MIP-1a (CCL3) (p=2.28x10E-9), and at 9q34.12 for IL-10 (p=4.52x10E-8). Functionally plausible genes could be assigned to the majority of loci including genes involved in cytokine secretion, granulocyte function, and cilial kinetics. Conclusions: This is the first context-specific genetic association study of blood cytokine concentrations in CAP patients revealing numerous biologically plausible candidate genes. Two of the loci were also associated with atherosclerosis with probable common or consecutive pathomechanisms.

Published
2021

23. Quality of life in patients with statin intolerance: a multicentre prospective registry study

Author

Baessler, A., Borucki, K., Heine, G., Hoh, G., Klingenberg, R., Koenig, W., Parhofer, K., Rettig-Ewen, V., Schettler, V., Schirmer, S., Seiler-Mußler, S., Stach-Jablonski, K., Taggeselle, J., Tamm, A., Vogt, A., Stürzebecher, Paulina E., Gouni-Berthold, Ioanna, Mateev, Christina, Frenzel, Ole, Erbe, Stephan, Boeckel, Jes-Niels, Scholz, Markus, Schatz, Ulrike, Weingärtner, Oliver, Kassner, Ursula, and Laufs, Ulrich

Published
2024
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24. Jetting bubbles observed by x-ray holography at a free-electron laser: internal structure and the effect of non-axisymmetric boundary conditions

Author

Rosselló, Juan M., Hoeppe, Hannes P., Koch, Max, Lechner, Christiane, Osterhoff, Markus, Vassholz, Malte, Hagemann, Johannes, Möller, Johannes, Scholz, Markus, Boesenberg, Ulrike, Hallmann, Jörg, Kim, Chan, Zozulya, Alexey, Lu, Wei, Shayduk, Roman, Madsen, Anders, Salditt, Tim, and Mettin, Robert

Published
2024
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25. On the parametrization of epidemiologic models -- lessons from modelling COVID-19 epidemic

Author

Kheifetz, Yuri, Kirsten, Holger, and Scholz, Markus

Subjects
Quantitative Biology - Populations and Evolution, Mathematics - Optimization and Control, Statistics - Applications, Statistics - Computation
Abstract

A plethora of prediction models of SARS-CoV-2 pandemic were proposed in the past. Prediction performances not only depend on the structure and features of the model, but also on its parametrization. Official databases are often biased due to lag in reporting of cases, changing testing policy or incompleteness of data. Moreover, model parametrization is time-dependent e.g. due to changing age-structures, new emerging virus variants, non-pharmaceutical interventions and ongoing vaccination programs. To cover these aspects, we develop a principled approach to parametrize SIR-type epidemiologic models of different complexities by embedding the model structure as a hidden layer into a general Input-Output Non-Linear Dynamical System (IO-NLDS). Non-explicitly modelled impacts on the system are imposed as inputs of the system. Observable data are coupled to hidden states of the model by appropriate data models considering possible biases of the data. We estimate model parameters including their time-dependence by a Bayesian knowledge synthesis process considering parameter ranges derived from external studies as prior information. We applied this approach on a SIR-type model and data of Germany and Saxony demonstrating good prediction performances. By our approach, we can estimate and compare for example the relative effectiveness of non-pharmaceutical interventions and can provide scenarios of the future course of the epidemic under specified conditions. Our method of parameter estimation can be translated to other data sets, i.e. other countries and other SIR-type models even for other disease contexts., Comment: The main manuscript is followed by the Supporting Information

Published
2021

26. An overview and a roadmap for artificial intelligence in hematology and oncology

Author

Rösler, Wiebke, Altenbuchinger, Michael, Baeßler, Bettina, Beissbarth, Tim, Beutel, Gernot, Bock, Robert, von Bubnoff, Nikolas, Eckardt, Jan-Niklas, Foersch, Sebastian, Loeffler, Chiara M. L., Middeke, Jan Moritz, Mueller, Martha-Lena, Oellerich, Thomas, Risse, Benjamin, Scherag, André, Schliemann, Christoph, Scholz, Markus, Spang, Rainer, Thielscher, Christian, Tsoukakis, Ioannis, and Kather, Jakob Nikolas

Published
2023
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28. Impact of the changing landscape of induction therapy prior to autologous stem cell transplantation in 540 newly diagnosed myeloma patients: a retrospective real-world study

Author

Wang, Song-Yau, Holzhey, Tanja, Heyn, Simone, Zehrfeld, Thomas, Fricke, Susann, Hoffmann, Franz Albert, Becker, Cornelia, Braunert, Leanthe, Edelmann, Thomas, Paulenz, Inessa, Hitzschke, Marcus, Flade, Franziska, Schwarzer, Andreas, Fenchel, Klaus, Franke, Georg-Nikolaus, Vucinic, Vladan, Jentzsch, Madlen, Schwind, Sebastian, Hell, Saskia, Backhaus, Donata, Lange, Thoralf, Niederwieser, Dietger, Scholz, Markus, Platzbecker, Uwe, and Pönisch, Wolfram

Published
2023
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29. Meta-GWAS of PCSK9 levels detects two novel loci at APOB and TM6SF2

Author

Pott, Janne, Gadin, Jesper, Theusch, Elizabeth, Kleber, Marcus E, Delgado, Graciela E, Kirsten, Holger, Hauck, Stefanie M, Burkhardt, Ralph, Scharnagl, Hubert, Krauss, Ronald M, Loeffler, Markus, März, Winfried, Thiery, Joachim, Silveira, Angela, Hooft, Ferdinand M Vant, and Scholz, Markus

Subjects
Digestive Diseases, Heart Disease, Atherosclerosis, Human Genome, Genetics, Cardiovascular, Heart Disease - Coronary Heart Disease, 2.1 Biological and endogenous factors, Aetiology, Apolipoproteins B, Cholesterol, LDL, Coronary Artery Disease, Genome-Wide Association Study, Humans, Membrane Proteins, Proprotein Convertase 9, Receptors, LDL, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

BackgroundProprotein convertase subtilisin/kexin type 9 (PCSK9) is a key player in lipid metabolism, as it degrades low-density lipoprotein (LDL) receptors from hepatic cell membranes. So far, only variants of the PCSK9 gene locus were found to be associated with PCSK9 levels. Here we aimed to identify novel genetic loci that regulate PCSK9 levels and how they relate to other lipid traits. Additionally, we investigated to what extend the causal effect of PCSK9 on coronary artery disease (CAD) is mediated by low-density lipoprotein-cholesterol (LDL-C).Methods and resultsWe performed a genome-wide association study meta-analysis of PCSK9 levels in up to 12 721 samples of European ancestry. The estimated heritability was 10.3%, which increased to 12.6% using only samples from patients without statin treatment. We successfully replicated the known PCSK9 hit consisting of three independent signals. Interestingly, in a study of 300 African Americans, we confirmed the locus with a different PCSK9 variant. Beyond PCSK9, our meta-analysis detected three novel loci with genome-wide significance. Co-localization analysis with cis-eQTLs and lipid traits revealed biologically plausible candidate genes at two of them: APOB and TM6SF2. In a bivariate Mendelian Randomization analysis, we detected a strong effect of PCSK9 on LDL-C, but not vice versa. LDL-C mediated 63% of the total causal effect of PCSK9 on CAD.ConclusionOur study identified novel genetic loci with plausible candidate genes affecting PCSK9 levels. Ethnic heterogeneity was observed at the PCSK9 locus itself. Although the causal effect of PCSK9 on CAD is mainly mediated by LDL-C, an independent direct effect also occurs.

Published
2022

30. Factorization and discrete-time representation of multivariate CARMA processes

Author

Fasen-Hartmann, Vicky and Scholz, Markus

Subjects
Mathematics - Statistics Theory, 62M10, 62M86, 60G10, G.3
Abstract

In this paper we show that stationary and non-stationary multivariate continuous-time ARMA (MCARMA) processes have the representation as a sum of multivariate complex-valued Ornstein-Uhlenbeck processes under some mild assumptions. The proof benefits from properties of rational matrix polynomials. A conclusion is an alternative description of the autocovariance function of a stationary MCARMA process. Moreover, that representation is used to show that the discrete-time sampled MCARMA(p,q) process is a weak VARMA(p,p-1) process if second moments exist. That result complements the weak VARMA(p,p-1) representation derived in Chambers and Thornton (2012). In particular, it relates the right solvents of the autoregressive polynomial of the MCARMA process to the right solvents of the autoregressive polynomial of the VARMA process; in the one-dimensional case the right solvents are the zeros of the autoregressive polynomial. Finally, a factorization of the sample autocovariance function of the noise sequence is presented which is useful for statistical inference., Comment: 14 pages

Published
2021

32. Genome-wide association and transcriptome analysis reveals serum ghrelin to be linked with GFRAL

Author

Wittekind, Dirk Alexander, Scholz, Markus, Kratzsch, Jürgen, Löffler, Markus, Horn, Katrin, Kirsten, Holger, Witte, Veronica, Villringer, Arno, and Kluge, Michael

Subjects
Quantitative Biology - Genomics
Abstract

Objective: Ghrelin is an orexigenic peptide hormone involved in the regulation of energy homeostasis, food intake and glucose metabolism. Serum levels increase anticipating a meal and fall afterwards. Underlying genetic mechanisms of the ghrelin secretion are unknown. Methods: Total serum ghrelin was measured in 1501 subjects selected from the population-based LIFE-ADULT-sample after an overnight fast. A genome-wide association study (GWAS) was performed. Gene-based expression association analyses (transcriptome-wide association study (TWAS)) were done using MetaXcan. Results: In the GWAS, three loci reached genome-wide significance: the WW-domain containing the oxidoreductase-gene (WWOX; p=1.80E-10) on chromosome 16q23.3-24.1 (SNP: rs76823993); the Contactin-Associated Protein-Like 2 gene (CNTNAP2; p=9.0E-9) on chromosome 7q35-q36 (SNP: rs192092592) and the Ghrelin And Obestatin Prepropeptide gene (GHRL; p=2.72E-8) on chromosome 3p25.3 (SNP: rs143729751). In the TWAS, serum ghrelin was negatively associated with RNA expression of the GDNF Family Receptor Alpha Like (GFRAL), receptor of the anorexigenic Growth Differentiation Factor-15 (GDF15), (z-score=-4.288, p=1.81E-05). Furthermore, ghrelin was positively associated with Ribosomal Protein L36 (RPL36; z-score=4.848, p=1.25E-06). Conclusions: Our findings provide evidence of a functional link between two major players of weight regulation, the ghrelin system and the GDF15/GFRAL-pathway.

Published
2020

33. Meta-analysis uncovers genome-wide significant variants for rapid kidney function decline

Author

Gorski, Mathias, Jung, Bettina, Li, Yong, Matias-Garcia, Pamela R, Wuttke, Matthias, Coassin, Stefan, Thio, Chris HL, Kleber, Marcus E, Winkler, Thomas W, Wanner, Veronika, Chai, Jin-Fang, Chu, Audrey Y, Cocca, Massimiliano, Feitosa, Mary F, Ghasemi, Sahar, Hoppmann, Anselm, Horn, Katrin, Li, Man, Nutile, Teresa, Scholz, Markus, Sieber, Karsten B, Teumer, Alexander, Tin, Adrienne, Wang, Judy, Tayo, Bamidele O, Ahluwalia, Tarunveer S, Almgren, Peter, Bakker, Stephan JL, Banas, Bernhard, Bansal, Nisha, Biggs, Mary L, Boerwinkle, Eric, Bottinger, Erwin P, Brenner, Hermann, Carroll, Robert J, Chalmers, John, Chee, Miao-Li, Chee, Miao-Ling, Cheng, Ching-Yu, Coresh, Josef, de Borst, Martin H, Degenhardt, Frauke, Eckardt, Kai-Uwe, Endlich, Karlhans, Franke, Andre, Freitag-Wolf, Sandra, Gampawar, Piyush, Gansevoort, Ron T, Ghanbari, Mohsen, Gieger, Christian, Hamet, Pavel, Ho, Kevin, Hofer, Edith, Holleczek, Bernd, Foo, Valencia Hui Xian, Hutri-Kähönen, Nina, Hwang, Shih-Jen, Ikram, M Arfan, Josyula, Navya Shilpa, Kähönen, Mika, Khor, Chiea-Chuen, Koenig, Wolfgang, Kramer, Holly, Krämer, Bernhard K, Kühnel, Brigitte, Lange, Leslie A, Lehtimäki, Terho, Lieb, Wolfgang, Loos, Ruth JF, Lukas, Mary Ann, Lyytikäinen, Leo-Pekka, Meisinger, Christa, Meitinger, Thomas, Melander, Olle, Milaneschi, Yuri, Mishra, Pashupati P, Mononen, Nina, Mychaleckyj, Josyf C, Nadkarni, Girish N, Nauck, Matthias, Nikus, Kjell, Ning, Boting, Nolte, Ilja M, O’Donoghue, Michelle L, Orho-Melander, Marju, Pendergrass, Sarah A, Penninx, Brenda WJH, Preuss, Michael H, Psaty, Bruce M, Raffield, Laura M, Raitakari, Olli T, Rettig, Rainer, Rheinberger, Myriam, Rice, Kenneth M, Rosenkranz, Alexander R, Rossing, Peter, Rotter, Jerome I, Sabanayagam, Charumathi, Schmidt, Helena, and Schmidt, Reinhold

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Prevention, Human Genome, Kidney Disease, Rare Diseases, Genetics, Aetiology, 2.1 Biological and endogenous factors, Renal and urogenital, AMP-Activated Protein Kinases, Creatinine, Genome-Wide Association Study, Glomerular Filtration Rate, Humans, Kidney, Protein Disulfide-Isomerases, United Kingdom, acute kidney injury, end-stage kidney disease, genome-wide association study, rapid eGFRcrea decline, Lifelines Cohort Study, Regeneron Genetics Center, Urology & Nephrology, Clinical sciences
Abstract

Rapid decline of glomerular filtration rate estimated from creatinine (eGFRcrea) is associated with severe clinical endpoints. In contrast to cross-sectionally assessed eGFRcrea, the genetic basis for rapid eGFRcrea decline is largely unknown. To help define this, we meta-analyzed 42 genome-wide association studies from the Chronic Kidney Diseases Genetics Consortium and United Kingdom Biobank to identify genetic loci for rapid eGFRcrea decline. Two definitions of eGFRcrea decline were used: 3 mL/min/1.73m2/year or more ("Rapid3"; encompassing 34,874 cases, 107,090 controls) and eGFRcrea decline 25% or more and eGFRcrea under 60 mL/min/1.73m2 at follow-up among those with eGFRcrea 60 mL/min/1.73m2 or more at baseline ("CKDi25"; encompassing 19,901 cases, 175,244 controls). Seven independent variants were identified across six loci for Rapid3 and/or CKDi25: consisting of five variants at four loci with genome-wide significance (near UMOD-PDILT (2), PRKAG2, WDR72, OR2S2) and two variants among 265 known eGFRcrea variants (near GATM, LARP4B). All these loci were novel for Rapid3 and/or CKDi25 and our bioinformatic follow-up prioritized variants and genes underneath these loci. The OR2S2 locus is novel for any eGFRcrea trait including interesting candidates. For the five genome-wide significant lead variants, we found supporting effects for annual change in blood urea nitrogen or cystatin-based eGFR, but not for GATM or LARP4B. Individuals at high compared to those at low genetic risk (8-14 vs. 0-5 adverse alleles) had a 1.20-fold increased risk of acute kidney injury (95% confidence interval 1.08-1.33). Thus, our identified loci for rapid kidney function decline may help prioritize therapeutic targets and identify mechanisms and individuals at risk for sustained deterioration of kidney function.

Published
2021

34. Genome-wide analysis identifies novel susceptibility loci for myocardial infarction

Author

Hartiala, Jaana A, Han, Yi, Jia, Qiong, Hilser, James R, Huang, Pin, Gukasyan, Janet, Schwartzman, William S, Cai, Zhiheng, Biswas, Subarna, Trégouët, David-Alexandre, Smith, Nicholas L, Consortium, The INVENT, Group, The CHARGE Consortium Hemostasis Working, Consortium, The GENIUS-CHD, Seldin, Marcus, Pan, Calvin, Mehrabian, Margarete, Lusis, Aldons J, Bazeley, Peter, Sun, Yan V, Liu, Chang, Quyyumi, Arshed A, Scholz, Markus, Thiery, Joachim, Delgado, Graciela E, Kleber, Marcus E, März, Winfried, Howe, Laurence J, Asselbergs, Folkert W, van Vugt, Marion, Vlachojannis, Georgios J, Patel, Riyaz S, Lyytikäinen, Leo-Pekka, Kähönen, Mika, Lehtimäki, Terho, Nieminen, Tuomo VM, Kuukasjärvi, Pekka, Laurikka, Jari O, Chang, Xuling, Heng, Chew-Kiat, Jiang, Rong, Kraus, William E, Hauser, Elizabeth R, Ferguson, Jane F, Reilly, Muredach P, Ito, Kaoru, Koyama, Satoshi, Kamatani, Yoichiro, Komuro, Issei, Japan, Biobank, Stolze, Lindsey K, Romanoski, Casey E, Khan, Mohammad Daud, Turner, Adam W, Miller, Clint L, Aherrahrou, Redouane, Civelek, Mete, Ma, Lijiang, Björkegren, Johan LM, Kumar, S Ram, Tang, WH Wilson, Hazen, Stanley L, and Allayee, Hooman

Subjects
Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Clinical Sciences, Cardiovascular, Heart Disease, Clinical Research, Heart Disease - Coronary Heart Disease, Human Genome, Genetics, Aging, Atherosclerosis, Aetiology, 2.1 Biological and endogenous factors, Coronary Artery Disease, Endothelial Cells, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Japan, Myocardial Infarction, Polymorphism, Single Nucleotide, Risk Factors, Myocardial infarction, Genetic factors, Genome-wide association study, Meta-analysis, SLC44A3, INVENT Consortium, CHARGE Consortium Hemostasis Working Group, GENIUS-CHD Consortium, Biobank Japan, Cardiorespiratory Medicine and Haematology, Cardiovascular System & Hematology, Cardiovascular medicine and haematology, Clinical sciences
Abstract

AimsWhile most patients with myocardial infarction (MI) have underlying coronary atherosclerosis, not all patients with coronary artery disease (CAD) develop MI. We sought to address the hypothesis that some of the genetic factors which establish atherosclerosis may be distinct from those that predispose to vulnerable plaques and thrombus formation.Methods and resultsWe carried out a genome-wide association study for MI in the UK Biobank (n∼472 000), followed by a meta-analysis with summary statistics from the CARDIoGRAMplusC4D Consortium (n∼167 000). Multiple independent replication analyses and functional approaches were used to prioritize loci and evaluate positional candidate genes. Eight novel regions were identified for MI at the genome wide significance level, of which effect sizes at six loci were more robust for MI than for CAD without the presence of MI. Confirmatory evidence for association of a locus on chromosome 1p21.3 harbouring choline-like transporter 3 (SLC44A3) with MI in the context of CAD, but not with coronary atherosclerosis itself, was obtained in Biobank Japan (n∼165 000) and 16 independent angiography-based cohorts (n∼27 000). Follow-up analyses did not reveal association of the SLC44A3 locus with CAD risk factors, biomarkers of coagulation, other thrombotic diseases, or plasma levels of a broad array of metabolites, including choline, trimethylamine N-oxide, and betaine. However, aortic expression of SLC44A3 was increased in carriers of the MI risk allele at chromosome 1p21.3, increased in ischaemic (vs. non-diseased) coronary arteries, up-regulated in human aortic endothelial cells treated with interleukin-1β (vs. vehicle), and associated with smooth muscle cell migration in vitro.ConclusionsA large-scale analysis comprising ∼831 000 subjects revealed novel genetic determinants of MI and implicated SLC44A3 in the pathophysiology of vulnerable plaques.

Published
2021

35. Fostering Reading Comprehension of Learning Tasks with Pictorial Symbols: A Qualitative Study of the Subjective Views and Reading Paths of Children with and without Special Needs

Author

Noll, Anna, Roth, Jurgen, and Scholz, Markus

Abstract

How can barriers in reading be reduced? Adding symbols to assignments could be one possibility for enhancing readability and, therefore, providing students with poor reading skills with access to learning material. This qualitative interview and eye-tracking study aims to acquire a first insight into how students rate and perceive the addition of symbols to texts. Students with special educational needs (N = 6) and without special educational needs (N = 6) participated. All students worked on tasks that were designed as an introduction to fractions. The study shows that the participants rated the additional symbols positively and utilized them without a prior explanation. Furthermore, the symbols were mainly used by the students to gain a holistic understanding of the assignments.

Published
2018

36. Tailoring the topological surface state in ultrathin $\alpha$-Sn (111) films

Author

Rogalev, Victor A., Reis, Felix, Adler, Florian, Bauernfeind, Maximilian, Erhardt, Jonas, Kowalewski, André, Scholz, Markus R., Dudy, Lenart, Duffy, Liam B., Hesjedal, Thorsten, Hoesch, Moritz, Bihlmayer, Gustav, Schäfer, Jörg, and Claessen, Ralph

Subjects
Condensed Matter - Strongly Correlated Electrons, Condensed Matter - Materials Science
Abstract

We report on the electronic structure of $\alpha$-Sn films in the very low thickness regime grown on InSb(111)A. High-resolution low photon energies angle-resolved photoemission (ARPES) allows for the direct observation of the linearly dispersing 2D topological surface states (TSSs) that exist between the second valence band and the conduction band. The Dirac point of this TSS was found to be 200meV below the Fermi level in 10-nm-thick $\alpha$-Sn films, which enables the observation of the hybridization gap opening at the Dirac point of the TSS for thinner films. The crossover to a quasi-2D electronic structure is accompanied by a full gap opening at the Brillouin zone center, in agreement with our density functional theory calculations. We further identify the thickness regime of $\alpha$-Sn films where the hybridization gap in TSS coexists with the topologically non-trivial electronic structure and one can expect the presence of a 1D helical edge states., Comment: 7 pages, 5 figures, 1 table

Published
2019
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38. Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults.

Author

Hofer, Edith, Roshchupkin, Gennady V, Adams, Hieab HH, Knol, Maria J, Lin, Honghuang, Li, Shuo, Zare, Habil, Ahmad, Shahzad, Armstrong, Nicola J, Satizabal, Claudia L, Bernard, Manon, Bis, Joshua C, Gillespie, Nathan A, Luciano, Michelle, Mishra, Aniket, Scholz, Markus, Teumer, Alexander, Xia, Rui, Jian, Xueqiu, Mosley, Thomas H, Saba, Yasaman, Pirpamer, Lukas, Seiler, Stephan, Becker, James T, Carmichael, Owen, Rotter, Jerome I, Psaty, Bruce M, Lopez, Oscar L, Amin, Najaf, van der Lee, Sven J, Yang, Qiong, Himali, Jayandra J, Maillard, Pauline, Beiser, Alexa S, DeCarli, Charles, Karama, Sherif, Lewis, Lindsay, Harris, Mat, Bastin, Mark E, Deary, Ian J, Veronica Witte, A, Beyer, Frauke, Loeffler, Markus, Mather, Karen A, Schofield, Peter R, Thalamuthu, Anbupalam, Kwok, John B, Wright, Margaret J, Ames, David, Trollor, Julian, Jiang, Jiyang, Brodaty, Henry, Wen, Wei, Vernooij, Meike W, Hofman, Albert, Uitterlinden, André G, Niessen, Wiro J, Wittfeld, Katharina, Bülow, Robin, Völker, Uwe, Pausova, Zdenka, Bruce Pike, G, Maingault, Sophie, Crivello, Fabrice, Tzourio, Christophe, Amouyel, Philippe, Mazoyer, Bernard, Neale, Michael C, Franz, Carol E, Lyons, Michael J, Panizzon, Matthew S, Andreassen, Ole A, Dale, Anders M, Logue, Mark, Grasby, Katrina L, Jahanshad, Neda, Painter, Jodie N, Colodro-Conde, Lucía, Bralten, Janita, Hibar, Derrek P, Lind, Penelope A, Pizzagalli, Fabrizio, Stein, Jason L, Thompson, Paul M, Medland, Sarah E, ENIGMA consortium, Sachdev, Perminder S, Kremen, William S, Wardlaw, Joanna M, Villringer, Arno, van Duijn, Cornelia M, Grabe, Hans J, Longstreth, William T, Fornage, Myriam, Paus, Tomas, Debette, Stephanie, Ikram, M Arfan, Schmidt, Helena, Schmidt, Reinhold, and Seshadri, Sudha

Subjects
ENIGMA consortium, Brain, Chromosome Structures, Humans, Neurodegenerative Diseases, Cognition, Mental Disorders, Genomics, Aging, Phenotype, Polymorphism, Single Nucleotide, Adult, Aged, Aged, 80 and over, Middle Aged, Female, Male, Genome-Wide Association Study, Genetics, Neurosciences, Human Genome, Brain Disorders, Biotechnology, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Neurological
Abstract

Cortical thickness, surface area and volumes vary with age and cognitive function, and in neurological and psychiatric diseases. Here we report heritability, genetic correlations and genome-wide associations of these cortical measures across the whole cortex, and in 34 anatomically predefined regions. Our discovery sample comprises 22,824 individuals from 20 cohorts within the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium and the UK Biobank. We identify genetic heterogeneity between cortical measures and brain regions, and 160 genome-wide significant associations pointing to wnt/β-catenin, TGF-β and sonic hedgehog pathways. There is enrichment for genes involved in anthropometric traits, hindbrain development, vascular and neurodegenerative disease and psychiatric conditions. These data are a rich resource for studies of the biological mechanisms behind cortical development and aging.

Published
2020

39. Common Genetic Variation Indicates Separate Causes for Periventricular and Deep White Matter Hyperintensities

Author

Armstrong, Nicola J, Mather, Karen A, Sargurupremraj, Muralidharan, Knol, Maria J, Malik, Rainer, Satizabal, Claudia L, Yanek, Lisa R, Wen, Wei, Gudnason, Vilmundur G, Dueker, Nicole D, Elliott, Lloyd T, Hofer, Edith, Bis, Joshua, Jahanshad, Neda, Li, Shuo, Logue, Mark A, Luciano, Michelle, Scholz, Markus, Smith, Albert V, Trompet, Stella, Vojinovic, Dina, Xia, Rui, Alfaro-Almagro, Fidel, Ames, David, Amin, Najaf, Amouyel, Philippe, Beiser, Alexa S, Brodaty, Henry, Deary, Ian J, Fennema-Notestine, Christine, Gampawar, Piyush G, Gottesman, Rebecca, Griffanti, Ludovica, Jack, Clifford R, Jenkinson, Mark, Jiang, Jiyang, Kral, Brian G, Kwok, John B, Lampe, Leonie, C.M. Liewald, David, Maillard, Pauline, Marchini, Jonathan, Bastin, Mark E, Mazoyer, Bernard, Pirpamer, Lukas, Rafael Romero, José, Roshchupkin, Gennady V, Schofield, Peter R, Schroeter, Matthias L, Stott, David J, Thalamuthu, Anbupalam, Trollor, Julian, Tzourio, Christophe, van der Grond, Jeroen, Vernooij, Meike W, Witte, Veronica A, Wright, Margaret J, Yang, Qiong, Morris, Zoe, Siggurdsson, Siggi, Psaty, Bruce, Villringer, Arno, Schmidt, Helena, Haberg, Asta K, van Duijn, Cornelia M, Jukema, J Wouter, Dichgans, Martin, Sacco, Ralph L, Wright, Clinton B, Kremen, William S, Becker, Lewis C, Thompson, Paul M, Mosley, Thomas H, Wardlaw, Joanna M, Ikram, M Arfan, Adams, Hieab HH, Seshadri, Sudha, Sachdev, Perminder S, Smith, Stephen M, Launer, Lenore, Longstreth, William, DeCarli, Charles, Schmidt, Reinhold, Fornage, Myriam, Debette, Stephanie, and Nyquist, Paul A

Subjects
Epidemiology, Health Sciences, Brain Disorders, Biotechnology, Neurosciences, Cerebrovascular, Stroke, Neurodegenerative, Dementia, Vascular Cognitive Impairment/Dementia, Alzheimer's Disease Related Dementias (ADRD), Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Human Genome, Aging, Genetics, Acquired Cognitive Impairment, 2.1 Biological and endogenous factors, Aged, Brain, Cerebral Small Vessel Diseases, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Male, Middle Aged, White Matter, brain, genome-wide association study, neuroimaging, risk factors, white matter, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Neurology & Neurosurgery, Clinical sciences, Allied health and rehabilitation science
Abstract

Background and purposePeriventricular white matter hyperintensities (WMH; PVWMH) and deep WMH (DWMH) are regional classifications of WMH and reflect proposed differences in cause. In the first study, to date, we undertook genome-wide association analyses of DWMH and PVWMH to show that these phenotypes have different genetic underpinnings.MethodsParticipants were aged 45 years and older, free of stroke and dementia. We conducted genome-wide association analyses of PVWMH and DWMH in 26,654 participants from CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology), ENIGMA (Enhancing Neuro-Imaging Genetics Through Meta-Analysis), and the UKB (UK Biobank). Regional correlations were investigated using the genome-wide association analyses -pairwise method. Cross-trait genetic correlations between PVWMH, DWMH, stroke, and dementia were estimated using LDSC.ResultsIn the discovery and replication analysis, for PVWMH only, we found associations on chromosomes 2 (NBEAL), 10q23.1 (TSPAN14/FAM231A), and 10q24.33 (SH3PXD2A). In the much larger combined meta-analysis of all cohorts, we identified ten significant regions for PVWMH: chromosomes 2 (3 regions), 6, 7, 10 (2 regions), 13, 16, and 17q23.1. New loci of interest include 7q36.1 (NOS3) and 16q24.2. In both the discovery/replication and combined analysis, we found genome-wide significant associations for the 17q25.1 locus for both DWMH and PVWMH. Using gene-based association analysis, 19 genes across all regions were identified for PVWMH only, including the new genes: CALCRL (2q32.1), KLHL24 (3q27.1), VCAN (5q27.1), and POLR2F (22q13.1). Thirteen genes in the 17q25.1 locus were significant for both phenotypes. More extensive genetic correlations were observed for PVWMH with small vessel ischemic stroke. There were no associations with dementia for either phenotype.ConclusionsOur study confirms these phenotypes have distinct and also shared genetic architectures. Genetic analyses indicated PVWMH was more associated with ischemic stroke whilst DWMH loci were implicated in vascular, astrocyte, and neuronal function. Our study confirms these phenotypes are distinct neuroimaging classifications and identifies new candidate genes associated with PVWMH only.

Published
2020

40. Global distributions of age- and sex-related arterial stiffness: systematic review and meta-analysis of 167 studies with 509,743 participants

Author

Aguilar, David, Al-Hashmi, Khamis M., Alvim, Rafael O., Al-Zakwani, Ibrahim S., Antza, Christina, Cicero, Arrigo F.G., Avramovska, Maja, Avramovski, Petar, Baek, Hyun Jae, Bäck, Magnus, Bailey, Kent, Baldo, Marcelo P., Batista, Rosângela F.L., Benetos, Athanasios, Benjamin, Emelia J., Bia, Daniel, Borghi, Claudio, Roux, Shani Botha-Le, Breet, Yolandi, Burgner, David, Cardoso, Viviane C., Cecelja, Marina, Ceponiene, Indre, Chen, Chen-Huan, Cheung, Michael, Cheng, Hao-min, Cho, Jaegeol, Chowienczyk, Phil, Coelho, Eduardo B., Cseprekal, Orsolya, Silva, Amilcar BT Da, Dallaire, Frédéric, Cunha, Roberto De Sá, Diaz, Alejandro, Ferreira, Albano V.L., Ferrières, Jean, Furuta, Yoshihiko, Gómez-Marcos, Manuel A., Gómez-Sánchez, Leticia, Halcox, Julian, Hanis, Craig, Herzig, Karl-Heinz, Jaeggi, Edgar, Kavousi, Maryam, Kiechl-Kohlendorfer, Ursula, Kim, Hack-Lyoung, Kim, Mi-Kyung, Kim, Yu-Mi, Kis, Eva, Knoflach, Michael, Kotsis, Vasilios, Koyama, Teruhide, Kozakova, Michaela, Kruger, Ruan, Kullo, Iftikhar J., Kweon, Sun-Seog, Lambrinoudaki, Irene, Liu, Chang, Loeffler, Markus, Logan, Jeongok G., Maddock, Jane, Magalhães, Pedro, Maldonado, João, Mattace-Raso, Francesco U.S., Messner, Alex, Meyer, Michelle L., Mi, Jie, Mill, José Geraldo, Mitchell, Gary F., Mu, Jian-Jun, Muhammad, Iram F., Nairz, Johannes, Nakagomi, Atsushi, Nakamura, Mieko, Nilson, Peter M., Ninomiya, Toshiharu, Palombo, Carlo, Pereira, Alexandre C., Pereira, Telmo, Capingana, Daniel P., Poon, Anna K., Probst-Hensch, Nicole, Quyyumi, Arshed A., Reusz, George S., Rhee, Moo-Yong, Ribeiro, Cecilia C.C., Rietzschel, Ernst, Rocha, Paulo R.H., Rodilla, Enrique, Rojek, Marta, Ruidavets, Jean-Bernard, Rutten, Joost H.W., Saijo, Yasuaki, Salvi, Paolo, Schmidt-Trucksäss, Arno, Scholz, Markus, Shin, Min-Ho, Segers, Patrick, Stamatelopoulos, Kimon, Strazhesko, Irina D., Sugiura, Minoru, Tkacheva, Olga N., Tomiyama, Hirofumi, Urbina, Elaine M., van den Munckhof, Inge C.L., Vasan, Ramachandran S., Wake, Melissa A., Wannamethee, Goya, Wong, Andrew, Yamashina, Akira, Yan, Yinkun, Zaniqueli, Divanei, Zhu, Fang, Zócalo, Yanina, Lu, Yao, Kiechl, Sophia J., Wang, Jie, Xu, Qingbo, Kiechl, Stefan, and Pechlaner, Raimund

Published
2023
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41. A saturated map of common genetic variants associated with human height

Author

Yengo, Loïc, Vedantam, Sailaja, Marouli, Eirini, Sidorenko, Julia, Bartell, Eric, Sakaue, Saori, Graff, Marielisa, Eliasen, Anders U., Jiang, Yunxuan, Raghavan, Sridharan, Miao, Jenkai, Arias, Joshua D., Graham, Sarah E., Mukamel, Ronen E., Spracklen, Cassandra N., Yin, Xianyong, Chen, Shyh-Huei, Ferreira, Teresa, Highland, Heather H., Ji, Yingjie, Karaderi, Tugce, Lin, Kuang, Lüll, Kreete, Malden, Deborah E., Medina-Gomez, Carolina, Machado, Moara, Moore, Amy, Rüeger, Sina, Sim, Xueling, Vrieze, Scott, Ahluwalia, Tarunveer S., Akiyama, Masato, Allison, Matthew A., Alvarez, Marcus, Andersen, Mette K., Ani, Alireza, Appadurai, Vivek, Arbeeva, Liubov, Bhaskar, Seema, Bielak, Lawrence F., Bollepalli, Sailalitha, Bonnycastle, Lori L., Bork-Jensen, Jette, Bradfield, Jonathan P., Bradford, Yuki, Braund, Peter S., Brody, Jennifer A., Burgdorf, Kristoffer S., Cade, Brian E., Cai, Hui, Cai, Qiuyin, Campbell, Archie, Cañadas-Garre, Marisa, Catamo, Eulalia, Chai, Jin-Fang, Chai, Xiaoran, Chang, Li-Ching, Chang, Yi-Cheng, Chen, Chien-Hsiun, Chesi, Alessandra, Choi, Seung Hoan, Chung, Ren-Hua, Cocca, Massimiliano, Concas, Maria Pina, Couture, Christian, Cuellar-Partida, Gabriel, Danning, Rebecca, Daw, E. Warwick, Degenhard, Frauke, Delgado, Graciela E., Delitala, Alessandro, Demirkan, Ayse, Deng, Xuan, Devineni, Poornima, Dietl, Alexander, Dimitriou, Maria, Dimitrov, Latchezar, Dorajoo, Rajkumar, Ekici, Arif B., Engmann, Jorgen E., Fairhurst-Hunter, Zammy, Farmaki, Aliki-Eleni, Faul, Jessica D., Fernandez-Lopez, Juan-Carlos, Forer, Lukas, Francescatto, Margherita, Freitag-Wolf, Sandra, Fuchsberger, Christian, Galesloot, Tessel E., Gao, Yan, Gao, Zishan, Geller, Frank, Giannakopoulou, Olga, Giulianini, Franco, Gjesing, Anette P., Goel, Anuj, Gordon, Scott D., Gorski, Mathias, Grove, Jakob, Guo, Xiuqing, Gustafsson, Stefan, Haessler, Jeffrey, Hansen, Thomas F., Havulinna, Aki S., Haworth, Simon J., He, Jing, Heard-Costa, Nancy, Hebbar, Prashantha, Hindy, George, Ho, Yuk-Lam A., Hofer, Edith, Holliday, Elizabeth, Horn, Katrin, Hornsby, Whitney E., Hottenga, Jouke-Jan, Huang, Hongyan, Huang, Jie, Huerta-Chagoya, Alicia, Huffman, Jennifer E., Hung, Yi-Jen, Huo, Shaofeng, Hwang, Mi Yeong, Iha, Hiroyuki, Ikeda, Daisuke D., Isono, Masato, Jackson, Anne U., Jäger, Susanne, Jansen, Iris E., Johansson, Ingegerd, Jonas, Jost B., Jonsson, Anna, Jørgensen, Torben, Kalafati, Ioanna-Panagiota, Kanai, Masahiro, Kanoni, Stavroula, Kårhus, Line L., Kasturiratne, Anuradhani, Katsuya, Tomohiro, Kawaguchi, Takahisa, Kember, Rachel L., Kentistou, Katherine A., Kim, Han-Na, Kim, Young Jin, Kleber, Marcus E., Knol, Maria J., Kurbasic, Azra, Lauzon, Marie, Le, Phuong, Lea, Rodney, Lee, Jong-Young, Leonard, Hampton L., Li, Shengchao A., Li, Xiaohui, Li, Xiaoyin, Liang, Jingjing, Lin, Honghuang, Lin, Shih-Yi, Liu, Jun, Liu, Xueping, Lo, Ken Sin, Long, Jirong, Lores-Motta, Laura, Luan, Jian’an, Lyssenko, Valeriya, Lyytikäinen, Leo-Pekka, Mahajan, Anubha, Mamakou, Vasiliki, Mangino, Massimo, Manichaikul, Ani, Marten, Jonathan, Mattheisen, Manuel, Mavarani, Laven, McDaid, Aaron F., Meidtner, Karina, Melendez, Tori L., Mercader, Josep M., Milaneschi, Yuri, Miller, Jason E., Millwood, Iona Y., Mishra, Pashupati P., Mitchell, Ruth E., Møllehave, Line T., Morgan, Anna, Mucha, Soeren, Munz, Matthias, Nakatochi, Masahiro, Nelson, Christopher P., Nethander, Maria, Nho, Chu Won, Nielsen, Aneta A., Nolte, Ilja M., Nongmaithem, Suraj S., Noordam, Raymond, Ntalla, Ioanna, Nutile, Teresa, Pandit, Anita, Christofidou, Paraskevi, Pärna, Katri, Pauper, Marc, Petersen, Eva R. B., Petersen, Liselotte V., Pitkänen, Niina, Polašek, Ozren, Poveda, Alaitz, Preuss, Michael H., Pyarajan, Saiju, Raffield, Laura M., Rakugi, Hiromi, Ramirez, Julia, Rasheed, Asif, Raven, Dennis, Rayner, Nigel W., Riveros, Carlos, Rohde, Rebecca, Ruggiero, Daniela, Ruotsalainen, Sanni E., Ryan, Kathleen A., Sabater-Lleal, Maria, Saxena, Richa, Scholz, Markus, Sendamarai, Anoop, Shen, Botong, Shi, Jingchunzi, Shin, Jae Hun, Sidore, Carlo, Sitlani, Colleen M., Slieker, Roderick C., Smit, Roelof A. J., Smith, Albert V., Smith, Jennifer A., Smyth, Laura J., Southam, Lorraine, Steinthorsdottir, Valgerdur, Sun, Liang, Takeuchi, Fumihiko, Tallapragada, Divya Sri Priyanka, Taylor, Kent D., Tayo, Bamidele O., Tcheandjieu, Catherine, Terzikhan, Natalie, Tesolin, Paola, Teumer, Alexander, Theusch, Elizabeth, Thompson, Deborah J., Thorleifsson, Gudmar, Timmers, Paul R. H. J., Trompet, Stella, Turman, Constance, Vaccargiu, Simona, van der Laan, Sander W., van der Most, Peter J., van Klinken, Jan B., van Setten, Jessica, Verma, Shefali S., Verweij, Niek, Veturi, Yogasudha, Wang, Carol A., Wang, Chaolong, Wang, Lihua, Wang, Zhe, Warren, Helen R., Bin Wei, Wen, Wickremasinghe, Ananda R., Wielscher, Matthias, Wiggins, Kerri L., Winsvold, Bendik S., Wong, Andrew, Wu, Yang, Wuttke, Matthias, Xia, Rui, Xie, Tian, Yamamoto, Ken, Yang, Jingyun, Yao, Jie, Young, Hannah, Yousri, Noha A., Yu, Lei, Zeng, Lingyao, Zhang, Weihua, Zhang, Xinyuan, Zhao, Jing-Hua, Zhao, Wei, Zhou, Wei, Zimmermann, Martina E., Zoledziewska, Magdalena, Adair, Linda S., Adams, Hieab H. H., Aguilar-Salinas, Carlos A., Al-Mulla, Fahd, Arnett, Donna K., Asselbergs, Folkert W., Åsvold, Bjørn Olav, Attia, John, Banas, Bernhard, Bandinelli, Stefania, Bennett, David A., Bergler, Tobias, Bharadwaj, Dwaipayan, Biino, Ginevra, Bisgaard, Hans, Boerwinkle, Eric, Böger, Carsten A., Bønnelykke, Klaus, Boomsma, Dorret I., Børglum, Anders D., Borja, Judith B., Bouchard, Claude, Bowden, Donald W., Brandslund, Ivan, Brumpton, Ben, Buring, Julie E., Caulfield, Mark J., Chambers, John C., Chandak, Giriraj R., Chanock, Stephen J., Chaturvedi, Nish, Chen, Yii-Der Ida, Chen, Zhengming, Cheng, Ching-Yu, Christophersen, Ingrid E., Ciullo, Marina, Cole, John W., Collins, Francis S., Cooper, Richard S., Cruz, Miguel, Cucca, Francesco, Cupples, L. Adrienne, Cutler, Michael J., Damrauer, Scott M., Dantoft, Thomas M., de Borst, Gert J., de Groot, Lisette C. P. G. M., De Jager, Philip L., de Kleijn, Dominique P. V., Janaka de Silva, H., Dedoussis, George V., den Hollander, Anneke I., Du, Shufa, Easton, Douglas F., Elders, Petra J. M., Eliassen, A. Heather, Ellinor, Patrick T., Elmståhl, Sölve, Erdmann, Jeanette, Evans, Michele K., Fatkin, Diane, Feenstra, Bjarke, Feitosa, Mary F., Ferrucci, Luigi, Ford, Ian, Fornage, Myriam, Franke, Andre, Franks, Paul W., Freedman, Barry I., Gasparini, Paolo, Gieger, Christian, Girotto, Giorgia, Goddard, Michael E., Golightly, Yvonne M., Gonzalez-Villalpando, Clicerio, Gordon-Larsen, Penny, Grallert, Harald, Grant, Struan F. A., Grarup, Niels, Griffiths, Lyn, Gudnason, Vilmundur, Haiman, Christopher, Hakonarson, Hakon, Hansen, Torben, Hartman, Catharina A., Hattersley, Andrew T., Hayward, Caroline, Heckbert, Susan R., Heng, Chew-Kiat, Hengstenberg, Christian, Hewitt, Alex W., Hishigaki, Haretsugu, Hoyng, Carel B., Huang, Paul L., Huang, Wei, Hunt, Steven C., Hveem, Kristian, Hyppönen, Elina, Iacono, William G., Ichihara, Sahoko, Ikram, M. Arfan, Isasi, Carmen R., Jackson, Rebecca D., Jarvelin, Marjo-Riitta, Jin, Zi-Bing, Jöckel, Karl-Heinz, Joshi, Peter K., Jousilahti, Pekka, Jukema, J. Wouter, Kähönen, Mika, Kamatani, Yoichiro, Kang, Kui Dong, Kaprio, Jaakko, Kardia, Sharon L. R., Karpe, Fredrik, Kato, Norihiro, Kee, Frank, Kessler, Thorsten, Khera, Amit V., Khor, Chiea Chuen, Kiemeney, Lambertus A. L. M., Kim, Bong-Jo, Kim, Eung Kweon, Kim, Hyung-Lae, Kirchhof, Paulus, Kivimaki, Mika, Koh, Woon-Puay, Koistinen, Heikki A., Kolovou, Genovefa D., Kooner, Jaspal S., Kooperberg, Charles, Köttgen, Anna, Kovacs, Peter, Kraaijeveld, Adriaan, Kraft, Peter, Krauss, Ronald M., Kumari, Meena, Kutalik, Zoltan, Laakso, Markku, Lange, Leslie A., Langenberg, Claudia, Launer, Lenore J., Le Marchand, Loic, Lee, Hyejin, Lee, Nanette R., Lehtimäki, Terho, Li, Huaixing, Li, Liming, Lieb, Wolfgang, Lin, Xu, Lind, Lars, Linneberg, Allan, Liu, Ching-Ti, Liu, Jianjun, Loeffler, Markus, London, Barry, Lubitz, Steven A., Lye, Stephen J., Mackey, David A., Mägi, Reedik, Magnusson, Patrik K. E., Marcus, Gregory M., Vidal, Pedro Marques, Martin, Nicholas G., März, Winfried, Matsuda, Fumihiko, McGarrah, Robert W., McGue, Matt, McKnight, Amy Jayne, Medland, Sarah E., Mellström, Dan, Metspalu, Andres, Mitchell, Braxton D., Mitchell, Paul, Mook-Kanamori, Dennis O., Morris, Andrew D., Mucci, Lorelei A., Munroe, Patricia B., Nalls, Mike A., Nazarian, Saman, Nelson, Amanda E., Neville, Matt J., Newton-Cheh, Christopher, Nielsen, Christopher S., Nöthen, Markus M., Ohlsson, Claes, Oldehinkel, Albertine J., Orozco, Lorena, Pahkala, Katja, Pajukanta, Päivi, Palmer, Colin N. A., Parra, Esteban J., Pattaro, Cristian, Pedersen, Oluf, Pennell, Craig E., Penninx, Brenda W. J. H., Perusse, Louis, Peters, Annette, Peyser, Patricia A., Porteous, David J., Posthuma, Danielle, Power, Chris, Pramstaller, Peter P., Province, Michael A., Qi, Qibin, Qu, Jia, Rader, Daniel J., Raitakari, Olli T., Ralhan, Sarju, Rallidis, Loukianos S., Rao, Dabeeru C., Redline, Susan, Reilly, Dermot F., Reiner, Alexander P., Rhee, Sang Youl, Ridker, Paul M., Rienstra, Michiel, Ripatti, Samuli, Ritchie, Marylyn D., Roden, Dan M., Rosendaal, Frits R., Rotter, Jerome I., Rudan, Igor, Rutters, Femke, Sabanayagam, Charumathi, Saleheen, Danish, Salomaa, Veikko, Samani, Nilesh J., Sanghera, Dharambir K., Sattar, Naveed, Schmidt, Börge, Schmidt, Helena, Schmidt, Reinhold, Schulze, Matthias B., Schunkert, Heribert, Scott, Laura J., Scott, Rodney J., Sever, Peter, Shiroma, Eric J., Shoemaker, M. Benjamin, Shu, Xiao-Ou, Simonsick, Eleanor M., Sims, Mario, Singh, Jai Rup, Singleton, Andrew B., Sinner, Moritz F., Smith, J. Gustav, Snieder, Harold, Spector, Tim D., Stampfer, Meir J., Stark, Klaus J., Strachan, David P., ‘t Hart, Leen M., Tabara, Yasuharu, Tang, Hua, Tardif, Jean-Claude, Thanaraj, Thangavel A., Timpson, Nicholas J., Tönjes, Anke, Tremblay, Angelo, Tuomi, Tiinamaija, Tuomilehto, Jaakko, Tusié-Luna, Maria-Teresa, Uitterlinden, Andre G., van Dam, Rob M., van der Harst, Pim, Van der Velde, Nathalie, van Duijn, Cornelia M., van Schoor, Natasja M., Vitart, Veronique, Völker, Uwe, Vollenweider, Peter, Völzke, Henry, Wacher-Rodarte, Niels H., Walker, Mark, Wang, Ya Xing, Wareham, Nicholas J., Watanabe, Richard M., Watkins, Hugh, Weir, David R., Werge, Thomas M., Widen, Elisabeth, Wilkens, Lynne R., Willemsen, Gonneke, Willett, Walter C., Wilson, James F., Wong, Tien-Yin, Woo, Jeong-Taek, Wright, Alan F., Wu, Jer-Yuarn, Xu, Huichun, Yajnik, Chittaranjan S., Yokota, Mitsuhiro, Yuan, Jian-Min, Zeggini, Eleftheria, Zemel, Babette S., Zheng, Wei, Zhu, Xiaofeng, Zmuda, Joseph M., Zonderman, Alan B., Zwart, John-Anker, Chasman, Daniel I., Cho, Yoon Shin, Heid, Iris M., McCarthy, Mark I., Ng, Maggie C. Y., O’Donnell, Christopher J., Rivadeneira, Fernando, Thorsteinsdottir, Unnur, Sun, Yan V., Tai, E. Shyong, Boehnke, Michael, Deloukas, Panos, Justice, Anne E., Lindgren, Cecilia M., Loos, Ruth J. F., Mohlke, Karen L., North, Kari E., Stefansson, Kari, Walters, Robin G., Winkler, Thomas W., Young, Kristin L., Loh, Po-Ru, Yang, Jian, Esko, Tõnu, Assimes, Themistocles L., Auton, Adam, Abecasis, Goncalo R., Willer, Cristen J., Locke, Adam E., Berndt, Sonja I., Lettre, Guillaume, Frayling, Timothy M., Okada, Yukinori, Wood, Andrew R., Visscher, Peter M., and Hirschhorn, Joel N.

Published
2022
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43. 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

44. Author Correction: Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

Author

Davies, Gail, Lam, Max, Harris, Sarah E, Trampush, Joey W, Luciano, Michelle, Hill, W David, Hagenaars, Saskia P, Ritchie, Stuart J, Marioni, Riccardo E, Fawns-Ritchie, Chloe, Liewald, David CM, Okely, Judith A, Ahola-Olli, Ari V, Barnes, Catriona LK, Bertram, Lars, Bis, Joshua C, Burdick, Katherine E, Christoforou, Andrea, DeRosse, Pamela, Djurovic, Srdjan, Espeseth, Thomas, Giakoumaki, Stella, Giddaluru, Sudheer, Gustavson, Daniel E, Hayward, Caroline, Hofer, Edith, Ikram, M Arfan, Karlsson, Robert, Knowles, Emma, Lahti, Jari, Leber, Markus, Li, Shuo, Mather, Karen A, Melle, Ingrid, Morris, Derek, Oldmeadow, Christopher, Palviainen, Teemu, Payton, Antony, Pazoki, Raha, Petrovic, Katja, Reynolds, Chandra A, Sargurupremraj, Muralidharan, Scholz, Markus, Smith, Jennifer A, Smith, Albert V, Terzikhan, Natalie, Thalamuthu, Anbupalam, Trompet, Stella, van der Lee, Sven J, Ware, Erin B, Windham, B Gwen, Wright, Margaret J, Yang, Jingyun, Yu, Jin, Ames, David, Amin, Najaf, Amouyel, Philippe, Andreassen, Ole A, Armstrong, Nicola J, Assareh, Amelia A, Attia, John R, Attix, Deborah, Avramopoulos, Dimitrios, Bennett, David A, Böhmer, Anne C, Boyle, Patricia A, Brodaty, Henry, Campbell, Harry, Cannon, Tyrone D, Cirulli, Elizabeth T, Congdon, Eliza, Conley, Emily Drabant, Corley, Janie, Cox, Simon R, Dale, Anders M, Dehghan, Abbas, Dick, Danielle, Dickinson, Dwight, Eriksson, Johan G, Evangelou, Evangelos, Faul, Jessica D, Ford, Ian, Freimer, Nelson A, Gao, He, Giegling, Ina, Gillespie, Nathan A, Gordon, Scott D, Gottesman, Rebecca F, Griswold, Michael E, Gudnason, Vilmundur, Harris, Tamara B, Hartmann, Annette M, Hatzimanolis, Alex, Heiss, Gerardo, Holliday, Elizabeth G, Joshi, Peter K, Kähönen, Mika, Kardia, Sharon LR, Karlsson, Ida, and Kleineidam, Luca

Abstract

Christina M. Lill, who contributed to analysis of data, was inadvertently omitted from the author list in the originally published version of this article. This has now been corrected in both the PDF and HTML versions of the article.

Published
2019

45. A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

Author

Ramdas, Shweta, Judd, Jonathan, Graham, Sarah E., Kanoni, Stavroula, Wang, Yuxuan, Surakka, Ida, Wenz, Brandon, Clarke, Shoa L., Chesi, Alessandra, Wells, Andrew, Bhatti, Konain Fatima, Vedantam, Sailaja, Winkler, Thomas W., Locke, Adam E., Marouli, Eirini, Zajac, Greg J.M., Wu, Kuan-Han H., Ntalla, Ioanna, Hui, Qin, Klarin, Derek, Hilliard, Austin T., Wang, Zeyuan, Xue, Chao, Thorleifsson, Gudmar, Helgadottir, Anna, Gudbjartsson, Daniel F., Holm, Hilma, Olafsson, Isleifur, Hwang, Mi Yeong, Han, Sohee, Akiyama, Masato, Sakaue, Saori, Terao, Chikashi, Kanai, Masahiro, Zhou, Wei, Brumpton, Ben M., Rasheed, Humaira, Havulinna, Aki S., Veturi, Yogasudha, Pacheco, Jennifer Allen, Rosenthal, Elisabeth A., Lingren, Todd, Feng, QiPing, Kullo, Iftikhar J., Narita, Akira, Takayama, Jun, Martin, Hilary C., Hunt, Karen A., Trivedi, Bhavi, Haessler, Jeffrey, Giulianini, Franco, Bradford, Yuki, Miller, Jason E., Campbell, Archie, Lin, Kuang, Millwood, Iona Y., Rasheed, Asif, Hindy, George, Faul, Jessica D., Zhao, Wei, Weir, David R., Turman, Constance, Huang, Hongyan, Graff, Mariaelisa, Choudhury, Ananyo, Sengupta, Dhriti, Mahajan, Anubha, Brown, Michael R., Zhang, Weihua, Yu, Ketian, Schmidt, Ellen M., Pandit, Anita, Gustafsson, Stefan, Yin, Xianyong, Luan, Jian’an, Zhao, Jing-Hua, Matsuda, Fumihiko, Jang, Hye-Mi, Yoon, Kyungheon, Medina-Gomez, Carolina, Pitsillides, Achilleas, Hottenga, Jouke Jan, Wood, Andrew R., Ji, Yingji, Gao, Zishan, Haworth, Simon, Mitchell, Ruth E., Chai, Jin Fang, Aadahl, Mette, Bjerregaard, Anne A., Yao, Jie, Manichaikul, Ani, Lee, Wen-Jane, Hsiung, Chao Agnes, Warren, Helen R., Ramirez, Julia, Bork-Jensen, Jette, Kårhus, Line L., Goel, Anuj, Sabater-Lleal, Maria, Noordam, Raymond, Mauro, Pala, Matteo, Floris, McDaid, Aaron F., Marques-Vidal, Pedro, Wielscher, Matthias, Trompet, Stella, Sattar, Naveed, Møllehave, Line T., Munz, Matthias, Zeng, Lingyao, Huang, Jianfeng, Yang, Bin, Poveda, Alaitz, Kurbasic, Azra, Schönherr, Sebastian, Forer, Lukas, Scholz, Markus, Galesloot, Tessel E., Bradfield, Jonathan P., Ruotsalainen, Sanni E., Daw, E. Warwick, Zmuda, Joseph M., Mitchell, Jonathan S., Fuchsberger, Christian, Christensen, Henry, Brody, Jennifer A., Le, Phuong, Feitosa, Mary F., Wojczynski, Mary K., Hemerich, Daiane, Preuss, Michael, Mangino, Massimo, Christofidou, Paraskevi, Verweij, Niek, Benjamins, Jan W., Engmann, Jorgen, Noah, Tsao L., Verma, Anurag, Slieker, Roderick C., Lo, Ken Sin, Zilhao, Nuno R., Kleber, Marcus E., Delgado, Graciela E., Huo, Shaofeng, Ikeda, Daisuke D., Iha, Hiroyuki, Yang, Jian, Liu, Jun, Demirkan, Ayşe, Leonard, Hampton L., Marten, Jonathan, Emmel, Carina, Schmidt, Börge, Smyth, Laura J., Cañadas-Garre, Marisa, Wang, Chaolong, Nakatochi, Masahiro, Wong, Andrew, Hutri-Kähönen, Nina, Sim, Xueling, Xia, Rui, Huerta-Chagoya, Alicia, Fernandez-Lopez, Juan Carlos, Lyssenko, Valeriya, Nongmaithem, Suraj S., Sankareswaran, Alagu, Irvin, Marguerite R., Oldmeadow, Christopher, Kim, Han-Na, Ryu, Seungho, Timmers, Paul R.H.J., Arbeeva, Liubov, Dorajoo, Rajkumar, Lange, Leslie A., Prasad, Gauri, Lorés-Motta, Laura, Pauper, Marc, Long, Jirong, Li, Xiaohui, Theusch, Elizabeth, Takeuchi, Fumihiko, Spracklen, Cassandra N., Loukola, Anu, Bollepalli, Sailalitha, Warner, Sophie C., Wang, Ya Xing, Wei, Wen B., Nutile, Teresa, Ruggiero, Daniela, Sung, Yun Ju, Chen, Shufeng, Liu, Fangchao, Yang, Jingyun, Kentistou, Katherine A., Banas, Bernhard, Morgan, Anna, Meidtner, Karina, Bielak, Lawrence F., Smith, Jennifer A., Hebbar, Prashantha, Farmaki, Aliki-Eleni, Hofer, Edith, Lin, Maoxuan, Concas, Maria Pina, Vaccargiu, Simona, van der Most, Peter J., Pitkänen, Niina, Cade, Brian E., van der Laan, Sander W., Chitrala, Kumaraswamy Naidu, Weiss, Stefan, Bentley, Amy R., Doumatey, Ayo P., Adeyemo, Adebowale A., Lee, Jong Young, Petersen, Eva R.B., Nielsen, Aneta A., Choi, Hyeok Sun, Nethander, Maria, Freitag-Wolf, Sandra, Southam, Lorraine, Rayner, Nigel W., Wang, Carol A., Lin, Shih-Yi, Wang, Jun-Sing, Couture, Christian, Lyytikäinen, Leo-Pekka, Nikus, Kjell, Cuellar-Partida, Gabriel, Vestergaard, Henrik, Hidalgo, Bertha, Giannakopoulou, Olga, Cai, Qiuyin, Obura, Morgan O., van Setten, Jessica, He, Karen Y., Tang, Hua, Terzikhan, Natalie, Shin, Jae Hun, Jackson, Rebecca D., Reiner, Alexander P., Martin, Lisa Warsinger, Chen, Zhengming, Li, Liming, Kawaguchi, Takahisa, Thiery, Joachim, Bis, Joshua C., Launer, Lenore J., Li, Huaixing, Nalls, Mike A., Raitakari, Olli T., Ichihara, Sahoko, Wild, Sarah H., Nelson, Christopher P., Campbell, Harry, Jäger, Susanne, Nabika, Toru, Al-Mulla, Fahd, Niinikoski, Harri, Braund, Peter S., Kolcic, Ivana, Kovacs, Peter, Giardoglou, Tota, Katsuya, Tomohiro, de Kleijn, Dominique, de Borst, Gert J., Kim, Eung Kweon, Adams, Hieab H.H., Ikram, M. Arfan, Zhu, Xiaofeng, Asselbergs, Folkert W., Kraaijeveld, Adriaan O., Beulens, Joline W.J., Shu, Xiao-Ou, Rallidis, Loukianos S., Pedersen, Oluf, Hansen, Torben, Mitchell, Paul, Hewitt, Alex W., Kähönen, Mika, Pérusse, Louis, Bouchard, Claude, Tönjes, Anke, Ida Chen, Yii-Der, Pennell, Craig E., Mori, Trevor A., Lieb, Wolfgang, Franke, Andre, Ohlsson, Claes, Mellström, Dan, Cho, Yoon Shin, Lee, Hyejin, Yuan, Jian-Min, Koh, Woon-Puay, Rhee, Sang Youl, Woo, Jeong-Taek, Heid, Iris M., Stark, Klaus J., Zimmermann, Martina E., Völzke, Henry, Homuth, Georg, Evans, Michele K., Zonderman, Alan B., Polasek, Ozren, Pasterkamp, Gerard, Hoefer, Imo E., Redline, Susan, Pahkala, Katja, Oldehinkel, Albertine J., Snieder, Harold, Biino, Ginevra, Schmidt, Reinhold, Schmidt, Helena, Bandinelli, Stefania, Dedoussis, George, Thanaraj, Thangavel Alphonse, Peyser, Patricia A., Kato, Norihiro, Schulze, Matthias B., Girotto, Giorgia, Böger, Carsten A., Jung, Bettina, Joshi, Peter K., Bennett, David A., De Jager, Philip L., Lu, Xiangfeng, Mamakou, Vasiliki, Brown, Morris, Caulfield, Mark J., Munroe, Patricia B., Guo, Xiuqing, Ciullo, Marina, Jonas, Jost B., Samani, Nilesh J., Kaprio, Jaakko, Pajukanta, Päivi, Tusié-Luna, Teresa, Aguilar-Salinas, Carlos A., Adair, Linda S., Bechayda, Sonny Augustin, de Silva, H. Janaka, Wickremasinghe, Ananda R., Krauss, Ronald M., Wu, Jer-Yuarn, Zheng, Wei, den Hollander, Anneke I., Bharadwaj, Dwaipayan, Correa, Adolfo, Wilson, James G., Lind, Lars, Heng, Chew-Kiat, Nelson, Amanda E., Golightly, Yvonne M., Wilson, James F., Penninx, Brenda, Kim, Hyung-Lae, Attia, John, Scott, Rodney J., Rao, D.C., Arnett, Donna K., Walker, Mark, Scott, Laura J., Koistinen, Heikki A., Chandak, Giriraj R., Mercader, Josep M., Villalpando, Clicerio Gonzalez, Orozco, Lorena, Fornage, Myriam, Tai, E. Shyong, van Dam, Rob M., Lehtimäki, Terho, Chaturvedi, Nish, Yokota, Mitsuhiro, Liu, Jianjun, Reilly, Dermot F., McKnight, Amy Jayne, Kee, Frank, Jöckel, Karl-Heinz, McCarthy, Mark I., Palmer, Colin N.A., Vitart, Veronique, Hayward, Caroline, Simonsick, Eleanor, van Duijn, Cornelia M., Jin, Zi-Bing, Lu, Fan, Hishigaki, Haretsugu, Lin, Xu, März, Winfried, Gudnason, Vilmundur, Tardif, Jean-Claude, Lettre, Guillaume, t Hart, Leen M., Elders, Petra J.M., Rader, Daniel J., Damrauer, Scott M., Kumari, Meena, Kivimaki, Mika, van der Harst, Pim, Spector, Tim D., Loos, Ruth J.F., Province, Michael A., Parra, Esteban J., Cruz, Miguel, Psaty, Bruce M., Brandslund, Ivan, Pramstaller, Peter P., Rotimi, Charles N., Christensen, Kaare, Ripatti, Samuli, Widén, Elisabeth, Hakonarson, Hakon, Grant, Struan F.A., Kiemeney, Lambertus, de Graaf, Jacqueline, Loeffler, Markus, Kronenberg, Florian, Gu, Dongfeng, Erdmann, Jeanette, Schunkert, Heribert, Franks, Paul W., Linneberg, Allan, Jukema, J. Wouter, Khera, Amit V., Männikkö, Minna, Jarvelin, Marjo-Riitta, Kutalik, Zoltan, Francesco, Cucca, Mook-Kanamori, Dennis O., Willems van Dijk, Ko, Watkins, Hugh, Strachan, David P., Grarup, Niels, Sever, Peter, Poulter, Neil, Huey-Herng Sheu, Wayne, Rotter, Jerome I., Dantoft, Thomas M., Karpe, Fredrik, Neville, Matt J., Timpson, Nicholas J., Cheng, Ching-Yu, Wong, Tien-Yin, Khor, Chiea Chuen, Li, Hengtong, Sabanayagam, Charumathi, Peters, Annette, Gieger, Christian, Hattersley, Andrew T., Pedersen, Nancy L., Magnusson, Patrik K.E., Boomsma, Dorret I., de Geus, Eco J.C., Cupples, L. Adrienne, van Meurs, Joyce B.J., Ikram, Arfan, Ghanbari, Mohsen, Gordon-Larsen, Penny, Huang, Wei, Kim, Young Jin, Tabara, Yasuharu, Wareham, Nicholas J., Langenberg, Claudia, Zeggini, Eleftheria, Tuomilehto, Jaakko, Kuusisto, Johanna, Laakso, Markku, Ingelsson, Erik, Abecasis, Goncalo, Chambers, John C., Kooner, Jaspal S., de Vries, Paul S., Morrison, Alanna C., Hazelhurst, Scott, Ramsay, Michèle, North, Kari E., Daviglus, Martha, Kraft, Peter, Martin, Nicholas G., Whitfield, John B., Abbas, Shahid, Saleheen, Danish, Walters, Robin G., Holmes, Michael V., Black, Corri, Smith, Blair H., Baras, Aris, Justice, Anne E., Buring, Julie E., Ridker, Paul M., Chasman, Daniel I., Kooperberg, Charles, Tamiya, Gen, Yamamoto, Masayuki, van Heel, David A., Trembath, Richard C., Wei, Wei-Qi, Jarvik, Gail P., Namjou, Bahram, Hayes, M. Geoffrey, Ritchie, Marylyn D., Jousilahti, Pekka, Salomaa, Veikko, Hveem, Kristian, Åsvold, Bjørn Olav, Kubo, Michiaki, Kamatani, Yoichiro, Okada, Yukinori, Murakami, Yoshinori, Kim, Bong-Jo, Thorsteinsdottir, Unnur, Stefansson, Kari, Zhang, Jifeng, Chen, Y. Eugene, Ho, Yuk-Lam, Lynch, Julie A., Tsao, Philip S., Chang, Kyong-Mi, Cho, Kelly, O'Donnell, Christopher J., Gaziano, John M., Wilson, Peter, Mohlke, Karen L., Frayling, Timothy M., Hirschhorn, Joel N., Kathiresan, Sekar, Boehnke, Michael, Struan Grant, Natarajan, Pradeep, Sun, Yan V., Morris, Andrew P., Deloukas, Panos, Peloso, Gina, Assimes, Themistocles L., Willer, Cristen J., Zhu, Xiang, and Brown, Christopher D.

Published
2022
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47. Quasi-maximum likelihood estimation for cointegrated continuous-time state space models observed at low frequencies

Author

Fasen-Hartmann, Vicky and Scholz, Markus

Subjects
Mathematics - Statistics Theory, 91G70, 62H12, 62M10, 60F05
Abstract

In this paper, we investigate quasi-maximum likelihood (QML) estimation for the parameters of a cointegrated solution of a continuous-time linear state space model observed at discrete time points. The class of cointegrated solutions of continuous-time linear state space models is equivalent to the class of cointegrated continuous-time ARMA (MCARMA) processes. As a start, some pseudo-innovations are constructed to be able to define a QML-function. Moreover, the parameter vector is divided appropriately in long-run and short-run parameters using a representation for cointegrated solutions of continuous-time linear state space models as a sum of a L\'evy process plus a stationary solution of a linear state space model. Then, we establish the consistency of our estimator in three steps. First, we show the consistency for the QML estimator of the long-run parameters. In the next step, we calculate its consistency rate. Finally, we use these results to prove the consistency for the QML estimator of the short-run parameters. After all, we derive the limiting distributions of the estimators. The long-run parameters are asymptotically mixed normally distributed, whereas the short-run parameters are asymptotically normally distributed. The performance of the QML estimator is demonstrated by a simulation study., Comment: 51 pages

Published
2017

48. Double Band Inversion in $ \alpha $-Sn: Appearance of Topological Surface States and the Role of Orbital Composition

Author

Rogalev, Victor A., Rauch, Tomáš, Scholz, Markus R., Reis, Felix, Dudy, Lenart, Fleszar, Andrzej, Husanu, Marius-Adrian, Strocov, Vladimir N., Henk, Jürgen, Mertig, Ingrid, Schäfer, Jörg, and Claessen, Ralph

Subjects
Condensed Matter - Strongly Correlated Electrons
Abstract

The electronic structure of \graySn(001) thin films strained compressively in-plane was studied both experimentally and theoretically. A new topological surface state (TSS) located entirely within the gapless projected bulk bands is revealed by \textit{ab initio}-based tight-binding calculations as well as directly accessed by soft X-ray angle-resolved photoemission. The topological character of this state, which is a surface resonance, is confirmed by unravelling the band inversion and by calculating the topological invariants. In agreement with experiment, electronic structure calculations show the maximum density of states in the subsurface region, while the already established TSS near the Fermi level is strongly localized at the surface. Such varied behavior is explained by the differences in orbital composition between the specific TSS and its associated bulk states, respectively. This provides an orbital protection mechanism for topological states against mixing with the background of bulk bands.

Published
2017
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49. Prediction of COVID‐19 severity using machine learning.

Author

Karaduzovic‐Hadziabdic, Kanita, Adilovic, Muhamed, Zhang, Lu, Lumley, Andrew I, Shah, Pranay, Shoaib, Muhammad, Satagopam, Venkata, Srivastava, Prashant Kumar, Emanueli, Costanza, Greco, Simona, Madè, Alisia, Padro, Teresa, Domingo, Pedro, Lustrek, Mitja, Scholz, Markus, Rosolowski, Maciej, Jordan, Marko, Benczik, Bettina, Ágg, Bence, and Ferdinandy, Péter

Subjects
SARS-CoV-2, MACHINE learning, COVID-19 pandemic, COVID-19, HEART failure, NUCLEOTIDE sequencing
Abstract

The article "Prediction of COVID-19 severity using machine learning" discusses the development of a machine learning model to predict COVID-19 severity based on age and five long noncoding RNAs (lncRNAs). The study involved 564 patients from four European cohorts, with the model achieving an area under the receiver operating characteristic curve (AUC) of .875 and an accuracy of .783. The ML model could be used to develop a molecular diagnostic assay for predicting disease severity and improving patient management during the COVID-19 pandemic. [Extracted from the article]

Published
2024
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50. GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes.

Author

Franceschini, Nora, Giambartolomei, Claudia, de Vries, Paul S, Finan, Chris, Bis, Joshua C, Huntley, Rachael P, Lovering, Ruth C, Tajuddin, Salman M, Winkler, Thomas W, Graff, Misa, Kavousi, Maryam, Dale, Caroline, Smith, Albert V, Hofer, Edith, van Leeuwen, Elisabeth M, Nolte, Ilja M, Lu, Lingyi, Scholz, Markus, Sargurupremraj, Muralidharan, Pitkänen, Niina, Franzén, Oscar, Joshi, Peter K, Noordam, Raymond, Marioni, Riccardo E, Hwang, Shih-Jen, Musani, Solomon K, Schminke, Ulf, Palmas, Walter, Isaacs, Aaron, Correa, Adolfo, Zonderman, Alan B, Hofman, Albert, Teumer, Alexander, Cox, Amanda J, Uitterlinden, André G, Wong, Andrew, Smit, Andries J, Newman, Anne B, Britton, Annie, Ruusalepp, Arno, Sennblad, Bengt, Hedblad, Bo, Pasaniuc, Bogdan, Penninx, Brenda W, Langefeld, Carl D, Wassel, Christina L, Tzourio, Christophe, Fava, Cristiano, Baldassarre, Damiano, O'Leary, Daniel H, Teupser, Daniel, Kuh, Diana, Tremoli, Elena, Mannarino, Elmo, Grossi, Enzo, Boerwinkle, Eric, Schadt, Eric E, Ingelsson, Erik, Veglia, Fabrizio, Rivadeneira, Fernando, Beutner, Frank, Chauhan, Ganesh, Heiss, Gerardo, Snieder, Harold, Campbell, Harry, Völzke, Henry, Markus, Hugh S, Deary, Ian J, Jukema, J Wouter, de Graaf, Jacqueline, Price, Jacqueline, Pott, Janne, Hopewell, Jemma C, Liang, Jingjing, Thiery, Joachim, Engmann, Jorgen, Gertow, Karl, Rice, Kenneth, Taylor, Kent D, Dhana, Klodian, Kiemeney, Lambertus ALM, Lind, Lars, Raffield, Laura M, Launer, Lenore J, Holdt, Lesca M, Dörr, Marcus, Dichgans, Martin, Traylor, Matthew, Sitzer, Matthias, Kumari, Meena, Kivimaki, Mika, Nalls, Mike A, Melander, Olle, Raitakari, Olli, Franco, Oscar H, Rueda-Ochoa, Oscar L, Roussos, Panos, Whincup, Peter H, Amouyel, Philippe, and Giral, Philippe

Subjects
MEGASTROKE Consortium, Humans, Coronary Disease, Genetic Predisposition to Disease, Amino Acid Oxidoreductases, Protein-Lysine 6-Oxidase, Risk Factors, Lod Score, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Genome-Wide Association Study, Plaque, Atherosclerotic, Carotid Intima-Media Thickness, ADAMTS9 Protein, Plaque, Atherosclerotic, Polymorphism, Single Nucleotide
Abstract

Carotid artery intima media thickness (cIMT) and carotid plaque are measures of subclinical atherosclerosis associated with ischemic stroke and coronary heart disease (CHD). Here, we undertake meta-analyses of genome-wide association studies (GWAS) in 71,128 individuals for cIMT, and 48,434 individuals for carotid plaque traits. We identify eight novel susceptibility loci for cIMT, one independent association at the previously-identified PINX1 locus, and one novel locus for carotid plaque. Colocalization analysis with nearby vascular expression quantitative loci (cis-eQTLs) derived from arterial wall and metabolic tissues obtained from patients with CHD identifies candidate genes at two potentially additional loci, ADAMTS9 and LOXL4. LD score regression reveals significant genetic correlations between cIMT and plaque traits, and both cIMT and plaque with CHD, any stroke subtype and ischemic stroke. Our study provides insights into genes and tissue-specific regulatory mechanisms linking atherosclerosis both to its functional genomic origins and its clinical consequences in humans.

Published
2018

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