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1. Involvement of the choroid plexus in Alzheimer’s disease pathophysiology: findings from mouse and human proteomic studies

Author

Delvenne, Aurore, Vandendriessche, Charysse, Gobom, Johan, Burgelman, Marlies, Dujardin, Pieter, De Nolf, Clint, Tijms, Betty M., Teunissen, Charlotte E., Schindler, Suzanne E., Verhey, Frans, Ramakers, Inez, Martinez-Lage, Pablo, Tainta, Mikel, Vandenberghe, Rik, Schaeverbeke, Jolien, Engelborghs, Sebastiaan, De Roeck, Ellen, Popp, Julius, Peyratout, Gwendoline, Tsolaki, Magda, Freund-Levi, Yvonne, Lovestone, Simon, Streffer, Johannes, Bertram, Lars, Blennow, Kaj, Zetterberg, Henrik, Visser, Pieter Jelle, Vandenbroucke, Roosmarijn E., and Vos, Stephanie J. B.

Published
2024
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2. No phenotypic or genotypic evidence for a link between sleep duration and brain atrophy

Author

Fjell, Anders M., Sørensen, Øystein, Wang, Yunpeng, Amlien, Inge K., Baaré, William F. C., Bartrés-Faz, David, Bertram, Lars, Boraxbekk, Carl-Johan, Brandmaier, Andreas M., Demuth, Ilja, Drevon, Christian A., Ebmeier, Klaus P., Ghisletta, Paolo, Kievit, Rogier, Kühn, Simone, Madsen, Kathrine Skak, Mowinckel, Athanasia M., Nyberg, Lars, Sexton, Claire E., Solé-Padullés, Cristina, Vidal-Piñeiro, Didac, Wagner, Gerd, Watne, Leiv Otto, and Walhovd, Kristine B.

Published
2023
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3. Paired plasma lipidomics and proteomics analysis in the conversion from mild cognitive impairment to Alzheimer's disease

Author

Gómez-Pascual, Alicia, Naccache, Talel, Xu, Jin, Hooshmand, Kourosh, Wretlind, Asger, Gabrielli, Martina, Lombardo, Marta Tiffany, Shi, Liu, Buckley, Noel J., Tijms, Betty M., Vos, Stephanie J.B., ten Kate, Mara, Engelborghs, Sebastiaan, Sleegers, Kristel, Frisoni, Giovanni B., Wallin, Anders, Lleó, Alberto, Popp, Julius, Martinez-Lage, Pablo, Streffer, Johannes, Barkhof, Frederik, Zetterberg, Henrik, Visser, Pieter Jelle, Lovestone, Simon, Bertram, Lars, Nevado-Holgado, Alejo J., Gualerzi, Alice, Picciolini, Silvia, Proitsi, Petroula, Verderio, Claudia, Botía, Juan A., and Legido-Quigley, Cristina

Published
2024
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4. Multivariate GWAS of Alzheimer’s disease CSF biomarker profiles implies GRIN2D in synaptic functioning

Author

Neumann, Alexander, Ohlei, Olena, Küçükali, Fahri, Bos, Isabelle J., Timsina, Jigyasha, Vos, Stephanie, Prokopenko, Dmitry, Tijms, Betty M., Andreasson, Ulf, Blennow, Kaj, Vandenberghe, Rik, Scheltens, Philip, Teunissen, Charlotte E., Engelborghs, Sebastiaan, Frisoni, Giovanni B., Blin, Oliver, Richardson, Jill C., Bordet, Régis, Lleó, Alberto, Alcolea, Daniel, Popp, Julius, Marsh, Thomas W., Gorijala, Priyanka, Clark, Christopher, Peyratout, Gwendoline, Martinez-Lage, Pablo, Tainta, Mikel, Dobson, Richard J. B., Legido-Quigley, Cristina, Van Broeckhoven, Christine, Tanzi, Rudolph E., ten Kate, Mara, Lill, Christina M., Barkhof, Frederik, Cruchaga, Carlos, Lovestone, Simon, Streffer, Johannes, Zetterberg, Henrik, Visser, Pieter Jelle, Sleegers, Kristel, and Bertram, Lars

Published
2023
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7. Region-based analysis of rare genomic variants in whole-genome sequencing datasets reveal two novel Alzheimer’s disease-associated genes: DTNB and DLG2

Author

Prokopenko, Dmitry, Lee, Sanghun, Hecker, Julian, Mullin, Kristina, Morgan, Sarah, Katsumata, Yuriko, Weiner, Michael W, Fardo, David W, Laird, Nan, Bertram, Lars, Hide, Winston, Lange, Christoph, and Tanzi, Rudolph E

Subjects
Aging, Genetics, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Biotechnology, Acquired Cognitive Impairment, Human Genome, Neurodegenerative, Alzheimer's Disease, Dementia, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Good Health and Well Being, Alzheimer Disease, Dithionitrobenzoic Acid, Dystrophin-Associated Proteins, Genetic Predisposition to Disease, Genome-Wide Association Study, Genomics, Guanylate Kinases, Humans, Neuropeptides, Polymorphism, Single Nucleotide, Tumor Suppressor Proteins, Whole Genome Sequencing, Alzheimer’s Disease Neuroimaging Initiative, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry
Abstract

Alzheimer's disease (AD) is a genetically complex disease for which nearly 40 loci have now been identified via genome-wide association studies (GWAS). We attempted to identify groups of rare variants (alternate allele frequency

Published
2022

10. Increased Menopausal Age Reduces the Risk of Parkinson's Disease: A Mendelian Randomization Approach

Author

Kusters, Cynthia DJ, Paul, Kimberly C, Folle, Aline Duarte, Keener, Adrienne M, Bronstein, Jeff M, Bertram, Lars, Hansen, Johnni, Horvath, Steve, Sinsheimer, Janet S, Lill, Christina M, and Ritz, Beate R

Subjects
Biomedical and Clinical Sciences, Neurosciences, Clinical Sciences, Clinical Research, Estrogen, Aging, Neurodegenerative, Genetics, Contraception/Reproduction, Parkinson's Disease, Prevention, Human Genome, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, 2.3 Psychological, social and economic factors, Neurological, Female, Genome-Wide Association Study, Humans, Male, Mendelian Randomization Analysis, Menopause, Parkinson Disease, Polymorphism, Single Nucleotide, Risk Factors, Parkinson's disease, females, menopause, menarche, Mendelian randomization, Human Movement and Sports Sciences, Neurology & Neurosurgery, Clinical sciences
Abstract

BackgroundStudies of Parkinson's disease (PD) and the association with age at menarche or menopause have reported inconsistent findings. Mendelian randomization (MR) may address measurement errors because of difficulties accurately reporting the age these life events occur.ObjectiveWe used MR to assess the association between age at menopause and age at menarche with PD risk.MethodsWe performed inverse variant-weighted (IVW) MR analysis using external genome-wide association study (GWAS) summary data from the United Kingdom biobank, and the effect estimates between genetic variants and PD among two population-based studies (Parkinson's disease in Denmark (PASIDA) study, Denmark, and Parkinson's Environment and Gene study [PEG], United States) that enrolled 1737 female and 2430 male subjects of European ancestry. We, then, replicated our findings for age at menopause using summary statistics from the PD consortium (19 773 women), followed by a meta-analysis combining all summary statistics.ResultsFor each year increase in age at menopause, the risk for PD decreased (odds ration [OR], 0.84; 95% confidence interval [CI], 0.73-0.98; P = 0.03) among women in our study, whereas there was no association among men (OR, 0.98; 95% CI, 0.85-1.11; P = 0.71). A replication using summary statistics from the PD consortium estimated an OR of 0.94 (95% CI, 0.90-0.99; P = 0.01), and we calculated a meta-analytic OR of 0.93 (95% CI, 0.89-0.98; P = 0.003). There was no indication for an association between age at menarche and PD (OR, 0.75; 95% CI, 0.44-1.29; P = 0.29).ConclusionsA later age at menopause was associated with a decreased risk of PD in women, supporting the hypothesis that sex hormones or other factors related to late menopause may be neuroprotective in PD. © 2021 International Parkinson and Movement Disorder Society.

Published
2021

12. Genetic risk scores and hallucinations in patients with Parkinson disease

Author

Kusters, Cynthia DJ, Paul, Kimberly C, Duarte Folle, Aline, Keener, Adrienne M, Bronstein, Jeff M, Dobricic, Valerija, Tysnes, Ole-Bjørn, Bertram, Lars, Alves, Guido, Sinsheimer, Janet S, Lill, Christina M, Maple-Grødem, Jodi, and Ritz, Beate R

Subjects
Biological Sciences, Genetics, Parkinson's Disease, Dementia, Mental Health, Acquired Cognitive Impairment, Neurosciences, Neurodegenerative, Clinical Research, Serious Mental Illness, Brain Disorders, Aging, Schizophrenia, Aetiology, 2.1 Biological and endogenous factors, Neurological, Clinical sciences
Abstract

ObjectiveWe examine the hypothesized overlap of genetic architecture for Alzheimer disease (AD), schizophrenia (SZ), and Parkinson disease (PD) through the use of polygenic risk scores (PRSs) with the occurrence of hallucinations in PD.MethodsWe used 2 population-based studies (ParkWest, Norway, and Parkinson's Environment and Gene, USA) providing us with 399 patients with PD with European ancestry and a PD diagnosis after age 55 years to assess the associations between 4 PRSs and hallucinations after 5 years of mean disease duration. Based on the existing genome-wide association study of other large consortia, 4 PRSs were created: one each using AD, SZ, and PD cohorts and another PRS for height, which served as a negative control.ResultsA higher prevalence of hallucinations was observed with each SD increase of the AD-PRS (odds ratio [OR]: 1.37, 95% confidence interval [CI]: 1.03-1.83). This effect was mainly driven by APOE (OR: 1.92, 95% CI: 1.14-3.22). In addition, a suggestive decrease and increase, respectively, in hallucination prevalence were observed with the SZ-PRS and the PD-PRS (OR: 0.77, 95% CI: 0.59-1.01; and OR: 1.29, 95% CI: 0.95-1.76, respectively). No association was observed with the height PRS.ConclusionsThese results suggest that mechanisms for hallucinations in PD may in part be driven by the same genetic architecture that leads to cognitive decline in AD, especially by APOE.

Published
2020

14. Genome-wide meta-analysis for Alzheimer’s disease cerebrospinal fluid biomarkers

Author

Jansen, Iris E., van der Lee, Sven J., Gomez-Fonseca, Duber, de Rojas, Itziar, Dalmasso, Maria Carolina, Grenier-Boley, Benjamin, Zettergren, Anna, Mishra, Aniket, Ali, Muhammad, Andrade, Victor, Bellenguez, Céline, Kleineidam, Luca, Küçükali, Fahri, Sung, Yun Ju, Tesí, Niccolo, Vromen, Ellen M., Wightman, Douglas P., Alcolea, Daniel, Alegret, Montserrat, Alvarez, Ignacio, Amouyel, Philippe, Athanasiu, Lavinia, Bahrami, Shahram, Bailly, Henri, Belbin, Olivia, Bergh, Sverre, Bertram, Lars, Biessels, Geert Jan, Blennow, Kaj, Blesa, Rafael, Boada, Mercè, Boland, Anne, Buerger, Katharina, Carracedo, Ángel, Cervera-Carles, Laura, Chene, Geneviève, Claassen, Jurgen A. H. R., Debette, Stephanie, Deleuze, Jean-Francois, de Deyn, Peter Paul, Diehl-Schmid, Janine, Djurovic, Srdjan, Dols-Icardo, Oriol, Dufouil, Carole, Duron, Emmanuelle, Düzel, Emrah, Fladby, Tormod, Fortea, Juan, Frölich, Lutz, García-González, Pablo, Garcia-Martinez, Maria, Giegling, Ina, Goldhardt, Oliver, Gobom, Johan, Grimmer, Timo, Haapasalo, Annakaisa, Hampel, Harald, Hanon, Olivier, Hausner, Lucrezia, Heilmann-Heimbach, Stefanie, Helisalmi, Seppo, Heneka, Michael T., Hernández, Isabel, Herukka, Sanna-Kaisa, Holstege, Henne, Jarholm, Jonas, Kern, Silke, Knapskog, Anne-Brita, Koivisto, Anne M., Kornhuber, Johannes, Kuulasmaa, Teemu, Lage, Carmen, Laske, Christoph, Leinonen, Ville, Lewczuk, Piotr, Lleó, Alberto, de Munain, Adolfo López, Lopez-Garcia, Sara, Maier, Wolfgang, Marquié, Marta, Mol, Merel O., Montrreal, Laura, Moreno, Fermin, Moreno-Grau, Sonia, Nicolas, Gael, Nöthen, Markus M., Orellana, Adelina, Pålhaugen, Lene, Papma, Janne M., Pasquier, Florence, Perneczky, Robert, Peters, Oliver, Pijnenburg, Yolande A. L., Popp, Julius, Posthuma, Danielle, Pozueta, Ana, Priller, Josef, Puerta, Raquel, Quintela, Inés, Ramakers, Inez, Rodriguez-Rodriguez, Eloy, Rujescu, Dan, Saltvedt, Ingvild, Sanchez-Juan, Pascual, Scheltens, Philip, Scherbaum, Norbert, Schmid, Matthias, Schneider, Anja, Selbæk, Geir, Selnes, Per, Shadrin, Alexey, Skoog, Ingmar, Soininen, Hilkka, Tárraga, Lluís, Teipel, Stefan, Tijms, Betty, Tsolaki, Magda, Van Broeckhoven, Christine, Van Dongen, Jasper, van Swieten, John C., Vandenberghe, Rik, Vidal, Jean-Sébastien, Visser, Pieter J., Vogelgsang, Jonathan, Waern, Margda, Wagner, Michael, Wiltfang, Jens, Wittens, Mandy M. J., Zetterberg, Henrik, Zulaica, Miren, van Duijn, Cornelia M., Bjerke, Maria, Engelborghs, Sebastiaan, Jessen, Frank, Teunissen, Charlotte E., Pastor, Pau, Hiltunen, Mikko, Ingelsson, Martin, Andreassen, Ole A., Clarimón, Jordi, Sleegers, Kristel, Ruiz, Agustín, Ramirez, Alfredo, Cruchaga, Carlos, Lambert, Jean-Charles, and van der Flier, Wiesje

Published
2022
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16. 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

17. Disentangling the genetics of lean mass.

Author

Karasik, David, Zillikens, M, Hsu, Yi-Hsiang, Aghdassi, Ali, Akesson, Kristina, Amin, Najaf, Barroso, Inês, Bennett, David, Bertram, Lars, Bochud, Murielle, Borecki, Ingrid, Broer, Linda, Buchman, Aron, Byberg, Liisa, Campbell, Harry, Campos-Obando, Natalia, Cauley, Jane, Cawthon, Peggy, Chambers, John, Chen, Zhao, Cho, Nam, Choi, Hyung, Chou, Wen-Chi, Cummings, Steven, de Groot, Lisette, De Jager, Phillip, Demuth, Ilja, Diatchenko, Luda, Econs, Michael, Eiriksdottir, Gudny, Enneman, Anke, Eriksson, Joel, Eriksson, Johan, Estrada, Karol, Evans, Daniel, Feitosa, Mary, Fu, Mao, Gieger, Christian, Grallert, Harald, Gudnason, Vilmundur, Lenore, Launer, Hayward, Caroline, Hofman, Albert, Homuth, Georg, Huffman, Kim, Husted, Lise, Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Johnson, Toby, Biffar, Reiner, Jordan, Joanne, Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpeläinen, Tuomas, Klopp, Norman, Kloth, Jacqueline, Koller, Daniel, Kooner, Jaspal, Kraus, William, Kritchevsky, Stephen, Kutalik, Zoltán, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Langdahl, Bente, Lerch, Markus, Lewis, Joshua, Lill, Christina, Lind, Lars, Lindgren, Cecilia, Liu, Yongmei, Livshits, Gregory, Ljunggren, Östen, Loos, Ruth, Lorentzon, Mattias, Luan, Jianan, Luben, Robert, Malkin, Ida, McGuigan, Fiona, Medina-Gomez, Carolina, Meitinger, Thomas, Melhus, Håkan, Mellström, Dan, Michaëlsson, Karl, Mitchell, Braxton, Morris, Andrew, Mosekilde, Leif, Nethander, Maria, Newman, Anne, OConnell, Jeffery, Oostra, Ben, Orwoll, Eric, Palotie, Aarno, Peacock, Munro, Perola, Markus, and Peters, Annette

Subjects
ADAMTS Proteins, Absorptiometry, Photon, Adipose Tissue, Adolescent, Adult, Aged, Aged, 80 and over, Alpha-Ketoglutarate-Dependent Dioxygenase FTO, Body Composition, Body Fluid Compartments, Electric Impedance, Extracellular Matrix Proteins, Female, Genome-Wide Association Study, Humans, Male, Middle Aged, Muscle, Skeletal, Phenotype, Polymorphism, Single Nucleotide, RNA-Binding Proteins, Receptor, Melanocortin, Type 4, Versicans, White People, Young Adult
Abstract

BACKGROUND: Lean body mass (LM) plays an important role in mobility and metabolic function. We previously identified five loci associated with LM adjusted for fat mass in kilograms. Such an adjustment may reduce the power to identify genetic signals having an association with both lean mass and fat mass. OBJECTIVES: To determine the impact of different fat mass adjustments on genetic architecture of LM and identify additional LM loci. METHODS: We performed genome-wide association analyses for whole-body LM (20 cohorts of European ancestry with n = 38,292) measured using dual-energy X-ray absorptiometry) or bioelectrical impedance analysis, adjusted for sex, age, age2, and height with or without fat mass adjustments (Model 1 no fat adjustment; Model 2 adjustment for fat mass as a percentage of body mass; Model 3 adjustment for fat mass in kilograms). RESULTS: Seven single-nucleotide polymorphisms (SNPs) in separate loci, including one novel LM locus (TNRC6B), were successfully replicated in an additional 47,227 individuals from 29 cohorts. Based on the strengths of the associations in Model 1 vs Model 3, we divided the LM loci into those with an effect on both lean mass and fat mass in the same direction and refer to those as sumo wrestler loci (FTO and MC4R). In contrast, loci with an impact specifically on LM were termed body builder loci (VCAN and ADAMTSL3). Using existing available genome-wide association study databases, LM increasing alleles of SNPs in sumo wrestler loci were associated with an adverse metabolic profile, whereas LM increasing alleles of SNPs in body builder loci were associated with metabolic protection. CONCLUSIONS: In conclusion, we identified one novel LM locus (TNRC6B). Our results suggest that a genetically determined increase in lean mass might exert either harmful or protective effects on metabolic traits, depending on its relation to fat mass.

Published
2019

18. Rare variants in IFFO1, DTNB, NLRC3 and SLC22A10 associate with Alzheimer’s disease CSF profile of neuronal injury and inflammation

Author

Neumann, Alexander, Küçükali, Fahri, Bos, Isabelle, Vos, Stephanie J. B., Engelborghs, Sebastiaan, De Pooter, Tim, Joris, Geert, De Rijk, Peter, De Roeck, Ellen, Tsolaki, Magda, Verhey, Frans, Martinez-Lage, Pablo, Tainta, Mikel, Frisoni, Giovanni, Blin, Oliver, Richardson, Jill, Bordet, Régis, Scheltens, Philip, Popp, Julius, Peyratout, Gwendoline, Johannsen, Peter, Frölich, Lutz, Vandenberghe, Rik, Freund-Levi, Yvonne, Streffer, Johannes, Lovestone, Simon, Legido-Quigley, Cristina, ten Kate, Mara, Barkhof, Frederik, Strazisar, Mojca, Zetterberg, Henrik, Bertram, Lars, Visser, Pieter Jelle, van Broeckhoven, Christine, and Sleegers, Kristel

Published
2022
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22. Correction: Cerebrospinal fluid tau levels are associated with abnormal neuronal plasticity markers in Alzheimer’s disease

Author

Visser, Pieter Jelle, Reus, Lianne M., Gobom, Johan, Jansen, Iris, Dicks, Ellen, van der Lee, Sven J., Tsolaki, Magda, Verhey, Frans R. J., Popp, Julius, Martinez-Lage, Pablo, Vandenberghe, Rik, Lleó, Alberto, Molinuevo, José Luís, Engelborghs, Sebastiaan, Freund-Levi, Yvonne, Froelich, Lutz, Sleegers, Kristel, Dobricic, Valerija, Lovestone, Simon, Streffer, Johannes, Vos, Stephanie J. B., Bos, Isabelle, Smit, August B., Blennow, Kaj, Scheltens, Philip, Teunissen, Charlotte E., Bertram, Lars, Zetterberg, Henrik, and Tijms, Betty M.

Published
2022
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23. Cerebrospinal fluid tau levels are associated with abnormal neuronal plasticity markers in Alzheimer’s disease

Author

Visser, Pieter Jelle, Reus, Lianne M., Gobom, Johan, Jansen, Iris, Dicks, Ellen, van der Lee, Sven J., Tsolaki, Magda, Verhey, Frans R. J., Popp, Julius, Martinez-Lage, Pablo, Vandenberghe, Rik, Lleó, Alberto, Molinuevo, José Luís, Engelborghs, Sebastiaan, Freund-Levi, Yvonne, Froelich, Lutz, Sleegers, Kristel, Dobricic, Valerija, Lovestone, Simon, Streffer, Johannes, Vos, Stephanie J. B., Bos, Isabelle, Smit, August B., Blennow, Kaj, Scheltens, Philip, Teunissen, Charlotte E., Bertram, Lars, Zetterberg, Henrik, and Tijms, Betty M.

Published
2022
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25. Educational attainment does not influence brain aging

Author

Nyberg, Lars, Magnussen, Fredrik, Lundquist, Anders, Baaré, William, Bartrés-Faz, David, Bertram, Lars, Boraxbekk, C. J., Brandmaier, Andreas M., Drevon, Christian A., Ebmeier, Klaus, Ghisletta, Paolo, Henson, Richard N., Junqué, Carme, Kievit, Rogier, Kleemeyer, Maike, Knights, Ethan, Kühn, Simone, Lindenberger, Ulman, Penninx, Brenda W. J. H., Pudas, Sara, Sørensen, Øystein, Vaqué-Alcázar, Lídia, Walhovd, Kristine B., and Fjell, Anders M.

Published
2021

26. Berlin Aging Study II (BASE-II)

Author

Demuth, Ilja, Bertram, Lars, Drewelies, Johanna, Düzel, Sandra, Lill, Christina M., Lindenberger, Ulman, Pawelec, Graham, Spira, Dominik, Wagner, Gert G., Gerstorf, Denis, Dupre, Matthew E., Section editor, Gu, Danan, editor, and Dupre, Matthew E., editor

Published
2021
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27. Associations of circulating C-reactive proteins, APOE ε4, and brain markers for Alzheimer’s disease in healthy samples across the lifespan

Author

Wang, Yunpeng, Grydeland, Håkon, Roe, James M., Pan, Mengyu, Magnussen, Fredrik, Amlien, Inge K., Watne, Leiv Otto, Idland, Ane-Victoria, Bertram, Lars, Gundersen, Thomas E., Pascual-Leone, Alvaro, Cabello-Toscano, Maria, Tormos, Jose M., Bartres-Faz, David, Drevon, Christian A., Fjell, Anders M., and Walhovd, Kristine W.

Published
2022
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28. 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

Subjects
Humans, Neurodegenerative Diseases, Genetic Predisposition to Disease, Cognition, Reaction Time, Mental Disorders, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Adolescent, Adult, Aged, Aged, 80 and over, Middle Aged, Young Adult, Genetic Loci, Neurodevelopmental Disorders, Prevention, Behavioral and Social Science, Mental Health, Neurosciences, Biotechnology, Genetics, Human Genome, Neurological, Mental health
Abstract

General cognitive function is a prominent and relatively stable human trait that is associated with many important life outcomes. We combine cognitive and genetic data from the CHARGE and COGENT consortia, and UK Biobank (total N = 300,486; age 16-102) and find 148 genome-wide significant independent loci (P

Published
2018

30. Post‐GWAS multiomic functional investigation of the TNIP1 locus in Alzheimer's disease highlights a potential role for GPX3

Author

Panyard, Daniel J., primary, Reus, Lianne M., additional, Ali, Muhammad, additional, Liu, Jihua, additional, Deming, Yuetiva K., additional, Lu, Qiongshi, additional, Kollmorgen, Gwendlyn, additional, Carboni, Margherita, additional, Wild, Norbert, additional, Visser, Pieter J., additional, Bertram, Lars, additional, Zetterberg, Henrik, additional, Blennow, Kaj, additional, Gobom, Johan, additional, Western, Dan, additional, Sung, Yun Ju, additional, Carlsson, Cynthia M., additional, Johnson, Sterling C., additional, Asthana, Sanjay, additional, Cruchaga, Carlos, additional, Tijms, Betty M., additional, Engelman, Corinne D., additional, and Snyder, Michael P., additional

Published
2024
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31. Genome-wide meta-analysis of short-tandem repeats for Parkinson's disease risk using genotype imputation

Author

Ohlei, Olena, primary, Paul, Kimberly, additional, Searles Nielsen, Susan, additional, Gmelin, David, additional, Dobricic, Valerija, additional, Altmann, Vivian, additional, Schilling, Marcel, additional, Bronstein, Jeff M, additional, Franke, Andre, additional, Wittig, Michael, additional, Parkkinen, Laura, additional, Hansen, Johnni, additional, Checkoway, Harvey, additional, Ritz, Beate, additional, Bertram, Lars, additional, and Lill, Christina, additional

Published
2024
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32. Clinico-genetic findings in 509 frontotemporal dementia patients

Author

Wagner, Matias, Lorenz, Georg, Volk, Alexander E., Brunet, Theresa, Edbauer, Dieter, Berutti, Riccardo, Zhao, Chen, Anderl-Straub, Sarah, Bertram, Lars, Danek, Adrian, Deschauer, Marcus, Dill, Veronika, Fassbender, Klaus, Fliessbach, Klaus, Götze, Katharina S., Jahn, Holger, Kornhuber, Johannes, Landwehrmeyer, Bernhard, Lauer, Martin, Obrig, Hellmuth, Prudlo, Johannes, Schneider, Anja, Schroeter, Matthias L., Uttner, Ingo, Vukovich, Ruth, Wiltfang, Jens, Winkler, Andrea S., Zhou, Qihui, Ludolph, Albert C., Oexle, Konrad, Otto, Markus, Diehl-Schmid, Janine, and Winkelmann, Juliane

Published
2021
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33. Erratum: Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.

Author

Zillikens, M Carola, Demissie, Serkalem, Hsu, Yi-Hsiang, Yerges-Armstrong, Laura M, Chou, Wen-Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L, Kutalik, Zoltán, Luan, Jian'an, Malkin, Ida, Ried, Janina S, Smith, Albert V, Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J, Barroso, Inês, Bennett, David A, Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B, Buchman, Aron S, Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A, Cawthon, Peggy M, Cederberg, Henna, Chen, Zhao, Cho, Nam H, Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R, De Jager, Philip L, Demuth, Ilja, Dhonukshe-Rutten, Rosalie AM, Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W, Erdos, Mike, Eriksson, Johan G, Eriksson, Joel, Estrada, Karol, Evans, Daniel S, Feitosa, Mary F, Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L, Grallert, Harald, Grewal, Jagvir, Han, Bok-Ghee, Hanson, Robert L, Hayward, Caroline, Hofman, Albert, Hoffman, Eric P, Homuth, Georg, Hsueh, Wen-Chi, Hubal, Monica J, Hubbard, Alan, Huffman, Kim M, Husted, Lise B, Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Jordan, Joanne M, Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpeläinen, Tuomas O, Klopp, Norman, Kloth, Jacqueline SL, Koistinen, Heikki A, Kraus, William E, Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L, Launer, Lenore J, Lee, Jong-Young, Lerch, Markus M, Lewis, Joshua R, Lind, Lars, Lindgren, Cecilia, and Liu, Yongmei

Subjects
Epidemiology, Biological Sciences, Health Sciences, Genetics
Abstract

A correction to this article has been published and is linked from the HTML version of this article.

Published
2017

34. Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.

Author

Zillikens, M Carola, Demissie, Serkalem, Hsu, Yi-Hsiang, Yerges-Armstrong, Laura M, Chou, Wen-Chi, Stolk, Lisette, Livshits, Gregory, Broer, Linda, Johnson, Toby, Koller, Daniel L, Kutalik, Zoltán, Luan, Jian'an, Malkin, Ida, Ried, Janina S, Smith, Albert V, Thorleifsson, Gudmar, Vandenput, Liesbeth, Hua Zhao, Jing, Zhang, Weihua, Aghdassi, Ali, Åkesson, Kristina, Amin, Najaf, Baier, Leslie J, Barroso, Inês, Bennett, David A, Bertram, Lars, Biffar, Rainer, Bochud, Murielle, Boehnke, Michael, Borecki, Ingrid B, Buchman, Aron S, Byberg, Liisa, Campbell, Harry, Campos Obanda, Natalia, Cauley, Jane A, Cawthon, Peggy M, Cederberg, Henna, Chen, Zhao, Cho, Nam H, Jin Choi, Hyung, Claussnitzer, Melina, Collins, Francis, Cummings, Steven R, De Jager, Philip L, Demuth, Ilja, Dhonukshe-Rutten, Rosalie AM, Diatchenko, Luda, Eiriksdottir, Gudny, Enneman, Anke W, Erdos, Mike, Eriksson, Johan G, Eriksson, Joel, Estrada, Karol, Evans, Daniel S, Feitosa, Mary F, Fu, Mao, Garcia, Melissa, Gieger, Christian, Girke, Thomas, Glazer, Nicole L, Grallert, Harald, Grewal, Jagvir, Han, Bok-Ghee, Hanson, Robert L, Hayward, Caroline, Hofman, Albert, Hoffman, Eric P, Homuth, Georg, Hsueh, Wen-Chi, Hubal, Monica J, Hubbard, Alan, Huffman, Kim M, Husted, Lise B, Illig, Thomas, Ingelsson, Erik, Ittermann, Till, Jansson, John-Olov, Jordan, Joanne M, Jula, Antti, Karlsson, Magnus, Khaw, Kay-Tee, Kilpeläinen, Tuomas O, Klopp, Norman, Kloth, Jacqueline SL, Koistinen, Heikki A, Kraus, William E, Kritchevsky, Stephen, Kuulasmaa, Teemu, Kuusisto, Johanna, Laakso, Markku, Lahti, Jari, Lang, Thomas, Langdahl, Bente L, Launer, Lenore J, Lee, Jong-Young, Lerch, Markus M, Lewis, Joshua R, Lind, Lars, Lindgren, Cecilia, and Liu, Yongmei

Subjects
Humans, Thinness, 17-Hydroxysteroid Dehydrogenases, Aldehyde Oxidoreductases, Extracellular Matrix Proteins, Body Composition, Phenotype, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Regulatory Elements, Transcriptional, Versicans, Genome-Wide Association Study, Insulin Receptor Substrate Proteins, ADAMTS Proteins, Alpha-Ketoglutarate-Dependent Dioxygenase FTO, Human Genome, Genetics, 1.1 Normal biological development and functioning
Abstract

Lean body mass, consisting mostly of skeletal muscle, is important for healthy aging. We performed a genome-wide association study for whole body (20 cohorts of European ancestry with n = 38,292) and appendicular (arms and legs) lean body mass (n = 28,330) measured using dual energy X-ray absorptiometry or bioelectrical impedance analysis, adjusted for sex, age, height, and fat mass. Twenty-one single-nucleotide polymorphisms were significantly associated with lean body mass either genome wide (p

Published
2017

35. Paired plasma lipidomics and proteomics analysis in the conversion from mild cognitive impairment to Alzheimer's disease

Author

Gómez-Pascual, A, Naccache, T, Xu, J, Hooshmand, K, Wretlind, A, Gabrielli, M, Lombardo, M, Shi, L, Buckley, N, Tijms, B, Vos, S, Ten Kate, M, Engelborghs, S, Sleegers, K, Frisoni, G, Wallin, A, Lleó, A, Popp, J, Martinez-Lage, P, Streffer, J, Barkhof, F, Zetterberg, H, Visser, P, Lovestone, S, Bertram, L, Nevado-Holgado, A, Gualerzi, A, Picciolini, S, Proitsi, P, Verderio, C, Botía, J, Legido-Quigley, C, Gómez-Pascual, Alicia, Naccache, Talel, Xu, Jin, Hooshmand, Kourosh, Wretlind, Asger, Gabrielli, Martina, Lombardo, Marta Tiffany, Shi, Liu, Buckley, Noel J, Tijms, Betty M, Vos, Stephanie J B, Ten Kate, Mara, Engelborghs, Sebastiaan, Sleegers, Kristel, Frisoni, Giovanni B, Wallin, Anders, Lleó, Alberto, Popp, Julius, Martinez-Lage, Pablo, Streffer, Johannes, Barkhof, Frederik, Zetterberg, Henrik, Visser, Pieter Jelle, Lovestone, Simon, Bertram, Lars, Nevado-Holgado, Alejo J, Gualerzi, Alice, Picciolini, Silvia, Proitsi, Petroula, Verderio, Claudia, Botía, Juan A, Legido-Quigley, Cristina, Gómez-Pascual, A, Naccache, T, Xu, J, Hooshmand, K, Wretlind, A, Gabrielli, M, Lombardo, M, Shi, L, Buckley, N, Tijms, B, Vos, S, Ten Kate, M, Engelborghs, S, Sleegers, K, Frisoni, G, Wallin, A, Lleó, A, Popp, J, Martinez-Lage, P, Streffer, J, Barkhof, F, Zetterberg, H, Visser, P, Lovestone, S, Bertram, L, Nevado-Holgado, A, Gualerzi, A, Picciolini, S, Proitsi, P, Verderio, C, Botía, J, Legido-Quigley, C, Gómez-Pascual, Alicia, Naccache, Talel, Xu, Jin, Hooshmand, Kourosh, Wretlind, Asger, Gabrielli, Martina, Lombardo, Marta Tiffany, Shi, Liu, Buckley, Noel J, Tijms, Betty M, Vos, Stephanie J B, Ten Kate, Mara, Engelborghs, Sebastiaan, Sleegers, Kristel, Frisoni, Giovanni B, Wallin, Anders, Lleó, Alberto, Popp, Julius, Martinez-Lage, Pablo, Streffer, Johannes, Barkhof, Frederik, Zetterberg, Henrik, Visser, Pieter Jelle, Lovestone, Simon, Bertram, Lars, Nevado-Holgado, Alejo J, Gualerzi, Alice, Picciolini, Silvia, Proitsi, Petroula, Verderio, Claudia, Botía, Juan A, and Legido-Quigley, Cristina

Abstract

Background: Alzheimer's disease (AD) is a neurodegenerative condition for which there is currently no available medication that can stop its progression. Previous studies suggest that mild cognitive impairment (MCI) is a phase that precedes the disease. Therefore, a better understanding of the molecular mechanisms behind MCI conversion to AD is needed. Method: Here, we propose a machine learning-based approach to detect the key metabolites and proteins involved in MCI progression to AD using data from the European Medical Information Framework for Alzheimer's Disease Multimodal Biomarker Discovery Study. Proteins and metabolites were evaluated separately in multiclass models (controls, MCI and AD) and together in MCI conversion models (MCI stable vs converter). Only features selected as relevant by 3/4 algorithms proposed were kept for downstream analysis. Results: Multiclass models of metabolites highlighted nine features further validated in an independent cohort (0.726 mean balanced accuracy). Among these features, one metabolite, oleamide, was selected by all the algorithms. Further in-vitro experiments in rodents showed that disease-associated microglia excreted oleamide in vesicles. Multiclass models of proteins stood out with nine features, validated in an independent cohort (0.720 mean balanced accuracy). However, none of the proteins was selected by all the algorithms. Besides, to distinguish between MCI stable and converters, 14 key features were selected (0.872 AUC), including tTau, alpha-synuclein (SNCA), junctophilin-3 (JPH3), properdin (CFP) and peptidase inhibitor 15 (PI15) among others. Conclusions: This omics integration approach highlighted a set of molecules associated with MCI conversion important in neuronal and glia inflammation pathways.

Published
2024

36. Blood DNA methylomic signatures associated with CSF biomarkers of Alzheimer's disease in the EMIF-AD study

Author

Smith, Rebecca G., Pishva, Ehsan, Kouhsar, Morteza, Imm, Jennifer, Dobricic, Valerija, Johannsen, Peter, Wittig, Michael, Franke, Andre, Vandenberghe, Rik, Schaeverbeke, Jolien, Freund-Levi, Yvonne, Frölich, Lutz, Scheltens, Philip, Teunissen, Charlotte E., Frisoni, Giovanni, Blin, Olivier, Richardson, Jill C., Bordet, Régis, Engelborghs, Sebastiaan, de Roeck, Ellen, Martinez-Lage, Pablo, Altuna, Miren, Tainta, Mikel, Lleó, Alberto, Sala, Isabel, Popp, Julius, Peyratout, Gwendoline, Winchester, Laura, Nevado-Holgado, Alejo, Verhey, Frans, Tsolaki, Magda, Andreasson, Ulf, Blennow, Kaj, Zetterberg, Henrik, Streffer, Johannes, Vos, Stephanie J. B., Lovestone, Simon, Visser, Pieter Jelle, Bertram, Lars, Lunnon, Katie, Smith, Rebecca G., Pishva, Ehsan, Kouhsar, Morteza, Imm, Jennifer, Dobricic, Valerija, Johannsen, Peter, Wittig, Michael, Franke, Andre, Vandenberghe, Rik, Schaeverbeke, Jolien, Freund-Levi, Yvonne, Frölich, Lutz, Scheltens, Philip, Teunissen, Charlotte E., Frisoni, Giovanni, Blin, Olivier, Richardson, Jill C., Bordet, Régis, Engelborghs, Sebastiaan, de Roeck, Ellen, Martinez-Lage, Pablo, Altuna, Miren, Tainta, Mikel, Lleó, Alberto, Sala, Isabel, Popp, Julius, Peyratout, Gwendoline, Winchester, Laura, Nevado-Holgado, Alejo, Verhey, Frans, Tsolaki, Magda, Andreasson, Ulf, Blennow, Kaj, Zetterberg, Henrik, Streffer, Johannes, Vos, Stephanie J. B., Lovestone, Simon, Visser, Pieter Jelle, Bertram, Lars, and Lunnon, Katie

Abstract

INTRODUCTION: We investigated blood DNA methylation patterns associated with 15 well-established cerebrospinal fluid (CSF) biomarkers of Alzheimer's disease (AD) pathophysiology, neuroinflammation, and neurodegeneration. METHODS: We assessed DNA methylation in 885 blood samples from the European Medical Information Framework for Alzheimer's Disease (EMIF-AD) study using the EPIC array. RESULTS: We identified Bonferroni-significant differential methylation associated with CSF YKL-40 (five loci) and neurofilament light chain (NfL; seven loci) levels, with two of the loci associated with CSF YKL-40 levels correlating with plasma YKL-40 levels. A co-localization analysis showed shared genetic variants underlying YKL-40 DNA methylation and CSF protein levels, with evidence that DNA methylation mediates the association between genotype and protein levels. Weighted gene correlation network analysis identified two modules of co-methylated loci correlated with several amyloid measures and enriched in pathways associated with lipoproteins and development. DISCUSSION: We conducted the most comprehensive epigenome-wide association study (EWAS) of AD-relevant CSF biomarkers to date. Future work should explore the relationship between YKL-40 genotype, DNA methylation, and protein levels in the brain. HIGHLIGHTS: Blood DNA methylation was assessed in the EMIF-AD MBD study. Epigenome-wide association studies (EWASs) were performed for 15 Alzheimer's disease (AD)-relevant cerebrospinal fluid (CSF) biomarker measures. Five Bonferroni-significant loci were associated with YKL-40 levels and seven with neurofilament light chain (NfL). DNA methylation in YKL-40 co-localized with previously reported genetic variation. DNA methylation potentially mediates the effect of single-nucleotide polymorphisms (SNPs) in YKL-40 on CSF protein levels., Funding information: Innovative Medicines Initiative Joint Undertaking, Grant/Award Number: 115372; European Union’s Seventh Framework Program, Grant/Award Number: FP7/2007-2013; Alzheimer’s Society, Grant/Award Number: AS-PG-14-038; Medical Research Council (MRC), Grant/Award Number: MR/S011625/1; National Institute on Aging, Grant/Award Number: R01AG067015; ZonMw Memorabel/Alzheimer Nederland, Grant/Award Number: 733050516; Stichting Alzheimer Onderzoek, Grant/Award Numbers: #13007, #11020, #2017-032; Flemish Government, Grant/Award Number: VIND IWT 135043; Fonds Wetenschappelijk Onderzoek, Grant/Award Number: #12Y1620N; Department of Health of the Basque Government, Grant/Award Numbers: 2016111096, S-PR12CH001, S-PR13ZH001; Carlos III Institute Ministry of Health Government of Spain, Grant/Award Number: PI12/02262; Swiss National Science Foundation, Grant/Award Numbers: #320030_141179, 320030_204886; Synapsis Foundation—Dementia Research Switzerland, Grant/Award Number: #2017-PI01; Swedish Research Council, Grant/Award Numbers: #2022-01018, #2017-00915, #2019-02397; European Union’s Horizon Europe research and innovation programme, Grant/Award Number: 101053962; Swedish State Support for Clinical Research, Grant/Award Number: #ALFGBG-71320; Alzheimer Drug Discovery Foundation, Grant/Award Number: #201809-2016862; AD Strategic Fund and the Alzheimer’s Association, Grant/Award Numbers: #ADSF-21-831376-C, #ADSF-21-831381-C, #ADSF-21-831377-C; Bluefield Project; Olav Thon Foundation; Erling-Persson Family Foundation; Stiftelsen för Gamla Tjänarinnor; Hjärnfonden, Grant/Award Number: #FO2022-0270; European Union’s Horizon 2020 research and innovation programme, Grant/Award Number: 860197; European Union Joint Programme—Neurodegenerative Disease Research, Grant/Award Number: JPND2021-00694; National Institute for Health and Care Research University College London Hospitals Biomedical Research Centre; UK Dementia Research Institute, Grant/Award Number: UKDRI-1003; Sw

Published
2024
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37. Lipoprotein(a) and Lung Function Are Associated in Older Adults: Longitudinal and Cross-Sectional Analyses.

Author

Song, Chae Kyung, Ohlei, Olena, Keller, Theresa, Regitz-Zagrosek, Vera, Toepfer, Sarah, Steinhagen-Thiessen, Elisabeth, Bertram, Lars, Buchmann, Nikolaus, and Demuth, Ilja

Subjects
FORCED expiratory volume, VITAL capacity (Respiration), GENOME-wide association studies, OLDER people, GENETICS
Abstract

While numerous studies have confirmed a causal association between lipoprotein(a) [Lp(a)] and cardiovascular diseases, only a few studies have assessed the relationship between Lp(a) and pulmonary health, with inconsistent findings regarding this topic. This study's aim was to examine whether levels of serum Lp(a) are associated with lung function in a dataset of relatively healthy older adults. We used longitudinal data collected at two time points 7.4 ± 1.5 years apart from 679 participants (52% women, 68 [65–71] years old) from the Berlin Aging Study II (BASE-II). Multiple linear regression models adjusting for covariates were applied to examine the association between Lp(a) and lung function. The forced expiratory volume in one second (FEV1) and the forced vital capacity (FVC) were higher in both men and women with higher Lp(a) levels. However, since this association between lung function parameters and Lp(a) was not supported by Mendelian randomization analyses using recent genome-wide association study data, these relationships should be investigated in future work, as the observed differences are, in part, considerable and potentially clinically relevant. [ABSTRACT FROM AUTHOR]

Published
2024
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38. Preclinical Alzheimer's disease: Definition, natural history, and diagnostic criteria.

Author

Dubois, Bruno, Hampel, Harald, Feldman, Howard H, Scheltens, Philip, Aisen, Paul, Andrieu, Sandrine, Bakardjian, Hovagim, Benali, Habib, Bertram, Lars, Blennow, Kaj, Broich, Karl, Cavedo, Enrica, Crutch, Sebastian, Dartigues, Jean-François, Duyckaerts, Charles, Epelbaum, Stéphane, Frisoni, Giovanni B, Gauthier, Serge, Genthon, Remy, Gouw, Alida A, Habert, Marie-Odile, Holtzman, David M, Kivipelto, Miia, Lista, Simone, Molinuevo, José-Luis, O'Bryant, Sid E, Rabinovici, Gil D, Rowe, Christopher, Salloway, Stephen, Schneider, Lon S, Sperling, Reisa, Teichmann, Marc, Carrillo, Maria C, Cummings, Jeffrey, Jack, Cliff R, Proceedings of the Meeting of the International Working Group (IWG) and the American Alzheimer's Association on “The Preclinical State of AD”, July 23, 2015, and Washington DC, USA

Subjects
Proceedings of the Meeting of the International Working Group (IWG) and the American Alzheimer's Association on “The Preclinical State of AD”, July 23, 2015, Washington DC, USA, Brain, Animals, Humans, Alzheimer Disease, Disease Progression, Alzheimer's disease, Amyloid PET, Asymptomatic, Biomarkers, Blood biomarkers, CSF biomarkers, Diagnostic criteria, Genetics, MRI, Pathophysiology, Preclinical, Tau PET, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Aging, Neurodegenerative, Dementia, Alzheimer's Disease, Brain Disorders, Acquired Cognitive Impairment, Human Genome, Neurosciences, Neurological, Clinical Sciences, Geriatrics
Abstract

During the past decade, a conceptual shift occurred in the field of Alzheimer's disease (AD) considering the disease as a continuum. Thanks to evolving biomarker research and substantial discoveries, it is now possible to identify the disease even at the preclinical stage before the occurrence of the first clinical symptoms. This preclinical stage of AD has become a major research focus as the field postulates that early intervention may offer the best chance of therapeutic success. To date, very little evidence is established on this "silent" stage of the disease. A clarification is needed about the definitions and lexicon, the limits, the natural history, the markers of progression, and the ethical consequence of detecting the disease at this asymptomatic stage. This article is aimed at addressing all the different issues by providing for each of them an updated review of the literature and evidence, with practical recommendations.

Published
2016

39. Gene-Environment Interaction in Parkinson's Disease: Coffee, ADORA2A, and CYP1A2.

Author

Chuang, Yu-Hsuan, Lill, Christina M, Lee, Pei-Chen, Hansen, Johnni, Lassen, Christina F, Bertram, Lars, Greene, Naomi, Sinsheimer, Janet S, and Ritz, Beate

Subjects
Humans, Parkinson Disease, Cytochrome P-450 CYP1A2, Receptor, Adenosine A2A, Risk Factors, Polymorphism, Single Nucleotide, Coffee, Aged, Middle Aged, Denmark, Female, Male, Gene-Environment Interaction, Parkinson's disease, Caffeine, Adenosine A2A receptor, Cytochrome P450 1A2, Meta-analysis, Receptor, Adenosine A2A, Polymorphism, Single Nucleotide, Epidemiology, Neurosciences, Public Health and Health Services
Abstract

Background and purposeDrinking caffeinated coffee has been reported to provide protection against Parkinson's disease (PD). Caffeine is an adenosine A2A receptor (encoded by the gene ADORA2A) antagonist that increases dopaminergic neurotransmission and Cytochrome P450 1A2 (gene: CYP1A2) metabolizes caffeine; thus, gene polymorphisms in ADORA2A and CYP1A2 may influence the effect coffee consumption has on PD risk.MethodsIn a population-based case-control study (PASIDA) in Denmark (1,556 PD patients and 1,606 birth year- and gender-matched controls), we assessed interactions between lifetime coffee consumption and 3 polymorphisms in ADORA2A and CYP1A2 for all subjects, and incident and prevalent PD cases separately using logistic regression models. We also conducted a meta-analysis combining our results with those from previous studies.ResultsWe estimated statistically significant interactions for ADORA2A rs5760423 and heavy vs. light coffee consumption in incident (OR interaction = 0.66 [95% CI 0.46-0.94], p = 0.02) but not prevalent PD. We did not observe interactions for CYP1A2 rs762551 and rs2472304 in incident or prevalent PD. In meta-analyses, PD associations with daily coffee consumption were strongest among carriers of variant alleles in both ADORA2A and CYP1A2.ConclusionWe corroborated results from a previous report that described interactions between ADORA2A and CYP1A2 polymorphisms and coffee consumption. Our results also suggest that survivor bias may affect results of studies that enroll prevalent PD cases.

Published
2016

40. Genome-wide QTL mapping across three tissues highlights several Alzheimer's and Parkinson's disease loci potentially acting via DNA methylation

Author

Ohlei, Olena, primary, Sommerer, Yasmine, additional, Dobricic, Valerija, additional, Homann, Jan, additional, Deecke, Laura, additional, Schilling, Marcel, additional, Bartres-Faz, David, additional, Cattaneo, Gabriele, additional, Duezel, Sandra, additional, Fjell, Anders M, additional, Lindenberger, Ulman, additional, Pascal-Leone, Alvaro, additional, Sabet, Sanaz S, additional, Sole-Padulles, Cristina, additional, Tormos, Josep M, additional, Vetter, Valentin M, additional, Walhovd, Kristine B, additional, Wesse, Tanja, additional, Wittig, Michael, additional, Franke, Andre, additional, Demuth, Ilja, additional, Lill, Christina M, additional, and Bertram, Lars, additional

Published
2023
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42. Blood DNA methylomic signatures associated with CSF biomarkers of Alzheimer’s disease in the EMIF‐AD Multimodal Biomarker Discovery study

Author

Smith, Rebecca G., primary, Imm, Jennifer L, additional, Dobricic, Valerija, additional, Sommerer, Yasmine, additional, Bos, Isabelle, additional, Vos, Stephanie J. B., additional, Verhey, Frans R.J., additional, Scheltens, Philip, additional, Engelborgs, Sebastiaan, additional, Frisoni, Giovanni B, additional, Blin, Olivier, additional, Richardson, Jill C, additional, Bordet, Régis, additional, Tsolaki, Magda, additional, Popp, Julius, additional, Martinez‐Lage, Pablo, additional, Lleo, Alberto, additional, Johannsen, Peter, additional, Freund‐Levi, Yvonne, additional, Lutz, Frölich, additional, Vandenberghe, Rik, additional, Wittig, Michael, additional, Frank, Andre, additional, Lovestone, Simon, additional, Streffer, Johannes, additional, Andreasson, Ulf, additional, Blennow, Kaj, additional, Visser, Pieter Jelle, additional, Zetterberg, Henrik, additional, Bertram, Lars, additional, and Lunnon, Katie, additional

Published
2023
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44. Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women

Author

Jones, Garan, Trajanoska, Katerina, Santanasto, Adam J., Stringa, Najada, Kuo, Chia-Ling, Atkins, Janice L., Lewis, Joshua R., Duong, ThuyVy, Hong, Shengjun, Biggs, Mary L., Luan, Jian’an, Sarnowski, Chloe, Lunetta, Kathryn L., Tanaka, Toshiko, Wojczynski, Mary K., Cvejkus, Ryan, Nethander, Maria, Ghasemi, Sahar, Yang, Jingyun, Zillikens, M. Carola, Walter, Stefan, Sicinski, Kamil, Kague, Erika, Ackert-Bicknell, Cheryl L., Arking, Dan E., Windham, B. Gwen, Boerwinkle, Eric, Grove, Megan L., Graff, Misa, Spira, Dominik, Demuth, Ilja, van der Velde, Nathalie, de Groot, Lisette C. P. G. M., Psaty, Bruce M., Odden, Michelle C., Fohner, Alison E., Langenberg, Claudia, Wareham, Nicholas J., Bandinelli, Stefania, van Schoor, Natasja M., Huisman, Martijn, Tan, Qihua, Zmuda, Joseph, Mellström, Dan, Karlsson, Magnus, Bennett, David A., Buchman, Aron S., De Jager, Philip L., Uitterlinden, Andre G., Völker, Uwe, Kocher, Thomas, Teumer, Alexander, Rodriguéz-Mañas, Leocadio, García, Francisco J., Carnicero, José A., Herd, Pamela, Bertram, Lars, Ohlsson, Claes, Murabito, Joanne M., Melzer, David, Kuchel, George A., Ferrucci, Luigi, Karasik, David, Rivadeneira, Fernando, Kiel, Douglas P., and Pilling, Luke C.

Published
2021
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45. NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases

Author

Nalls, Mike A, Bras, Jose, Hernandez, Dena G, Keller, Margaux F, Majounie, Elisa, Renton, Alan E, Saad, Mohamad, Jansen, Iris, Guerreiro, Rita, Lubbe, Steven, Plagnol, Vincent, Gibbs, J Raphael, Schulte, Claudia, Pankratz, Nathan, Sutherland, Margaret, Bertram, Lars, Lill, Christina M, DeStefano, Anita L, Faroud, Tatiana, Eriksson, Nicholas, Tung, Joyce Y, Edsall, Connor, Nichols, Noah, Brooks, Janet, Arepalli, Sampath, Pliner, Hannah, Letson, Chris, Heutink, Peter, Martinez, Maria, Gasser, Thomas, Traynor, Bryan J, Wood, Nick, Hardy, John, Singleton, Andrew B, Consortium, International Parkinson's Disease Genomics, and consortium, Parkinson's Disease meta-analysis

Subjects
Biological Psychology, Biomedical and Clinical Sciences, Neurosciences, Psychology, Genetics, Genetic Testing, Human Genome, Neurodegenerative, Clinical Research, Rare Diseases, Alleles, Costs and Cost Analysis, Genetic Association Studies, Genetic Predisposition to Disease, Genetic Variation, Genotyping Techniques, Neurodegenerative Diseases, Oligonucleotide Array Sequence Analysis, Genotyping, Methods, Neurodegeneration, Parkinson's, Meta-analysis, Imputation, International Parkinson's Disease Genomics Consortium, Parkinson's Disease meta-analysis consortium, Clinical Sciences, Neurology & Neurosurgery, Biological psychology
Abstract

Our objective was to design a genotyping platform that would allow rapid genetic characterization of samples in the context of genetic mutations and risk factors associated with common neurodegenerative diseases. The platform needed to be relatively affordable, rapid to deploy, and use a common and accessible technology. Central to this project, we wanted to make the content of the platform open to any investigator without restriction. In designing this array we prioritized a number of types of genetic variability for inclusion, such as known risk alleles, disease-causing mutations, putative risk alleles, and other functionally important variants. The array was primarily designed to allow rapid screening of samples for disease-causing mutations and large population studies of risk factors. Notably, an explicit aim was to make this array widely available to facilitate data sharing across and within diseases. The resulting array, NeuroX, is a remarkably cost and time effective solution for high-quality genotyping. NeuroX comprises a backbone of standard Illumina exome content of approximately 240,000 variants, and over 24,000 custom content variants focusing on neurologic diseases. Data are generated at approximately $50-$60 per sample using a 12-sample format chip and regular Infinium infrastructure; thus, genotyping is rapid and accessible to many investigators. Here, we describe the design of NeuroX, discuss the utility of NeuroX in the analyses of rare and common risk variants, and present quality control metrics and a brief primer for the analysis of NeuroX derived data.

Published
2015

46. Discovery and validation of plasma proteomic biomarkers relating to brain amyloid burden by SOMAscan assay

Author

Shi, Liu, Westwood, Sarah, Baird, Alison L., Winchester, Laura, Dobricic, Valerija, Kilpert, Fabian, Hong, Shengjun, Franke, Andre, Hye, Abdul, Ashton, Nicholas J., Morgan, Angharad R., Bos, Isabelle, Vos, Stephanie J.B., Buckley, Noel J., Kate, Mara ten, Scheltens, Philip, Vandenberghe, Rik, Gabel, Silvy, Meersmans, Karen, Engelborghs, Sebastiaan, De Roeck, Ellen E., Sleegers, Kristel, Frisoni, Giovanni B., Blin, Olivier, Richardson, Jill C., Bordet, Régis, Molinuevo, José L., Rami, Lorena, Wallin, Anders, Kettunen, Petronella, Tsolaki, Magda, Verhey, Frans, Lleó, Alberto, Alcolea, Daniel, Popp, Julius, Peyratout, Gwendoline, Martinez-Lage, Pablo, Tainta, Mikel, Johannsen, Peter, Teunissen, Charlotte E., Freund-Levi, Yvonne, Frölich, Lutz, Legido-Quigley, Cristina, Barkhof, Frederik, Blennow, Kaj, Zetterberg, Henrik, Baker, Susan, Morgan, B. Paul, Streffer, Johannes, Visser, Pieter Jelle, Bertram, Lars, Lovestone, Simon, and Nevado-Holgado, Alejo J.

Published
2019
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48. Inflammatory biomarkers in Alzheimer's disease plasma

Author

Bullmore, Edward T., Bhatti, Junaid, Chamberlain, Samuel J., Correia, Marta M., Crofts, Anna L., Dickinson, Amber, Foster, Andrew C., Kitzbichler, Manfred G., Knight, Clare, Lynall, Mary-Ellen, Maurice, Christina, O'Donnell, Ciara, Pointon, Linda J., St George Hyslop, Peter, Turner, Lorinda, Vertes, Petra, Widmer, Barry, Williams, Guy B., Morgan, B. Paul, Leckey, Claire A., Morgan, Angharad R., O'Hagan, Caroline, Touchard, Samuel, Cavanagh, Jonathan, Deith, Catherine, Farmer, Scott, McClean, John, McColl, Alison, McPherson, Andrew, Scouller, Paul, Sutherland, Murray, Boddeke, H.W.G.M., Richardson, Jill C., Khan, Shahid, Murphy, Phil, Parker, Christine A., Patel, Jai, Jones, Declan, de Boer, Peter, Kemp, John, Drevets, Wayne C., Nye, Jeffrey S., Wittenberg, Gayle, Isaac, John, Bhattacharya, Anindya, Carruthers, Nick, Kolb, Hartmuth, Pariante, Carmine M., Turkheimer, Federico, Barker, Gareth J., Byrom, Heidi, Cash, Diana, Cattaneo, Annamaria, Gee, Antony, Hastings, Caitlin, Mariani, Nicole, McLaughlin, Anna, Mondelli, Valeria, Nettis, Maria, Nikkheslat, Naghmeh, Randall, Karen, Sheridan, Hannah, Simmons, Camilla, Singh, Nisha, Van Loo, Victoria, Vicente-Rodriguez, Marta, Wood, Tobias C., Worrell, Courtney, Zajkowska, Zuzanna, Plath, Niels, Egebjerg, Jan, Eriksson, Hans, Gastambide, Francois, Adams, Karen Husted, Jeggo, Ross, Thomsen, Christian, Pederson, Jan Torleif, Campbell, Brian, Möller, Thomas, Nelson, Bob, Zorn, Stevin, O'Connor, Jason, Attenburrow, Mary Jane, Baird, Alison, Benjamin, Jithen, Clare, Stuart, Cowen, Philip, Huang, I-Shu (Dante), Hurley, Samuel, Jones, Helen, Lovestone, Simon, Mada, Francisca, Nevado-Holgado, Alejo, Oladejo, Akintayo, Ribe, Elena, Smith, Katy, Vyas, Anviti, Hughes, Zoe, Balice-Gordon, Rita, Duerr, James, Piro, Justin R., Sporn, Jonathan, Perry, V. Hugh, Cleal, Madeleine, Fryatt, Gemma, Gomez-Nicola, Diego, Mancuso, Renzo, Reynolds, Richard, Harrison, Neil A., Cercignani, Mara, Clarke, Charlotte L., Hoskins, Elizabeth, Kohn, Charmaine, Murray, Rosemary, Wilcock, Lauren, Wlazly, Dominika, Mount, Howard, Leckey, Claire, Nevado-Holgado, Alejo J., Barkhof, Frederik, Bertram, Lars, Blin, Olivier, Bos, Isabelle, Dobricic, Valerija, Engelborghs, Sebastiaan, Frisoni, Giovanni, Frölich, Lutz, Gabel, Silvey, Johannsen, Peter, Kettunen, Petronella, Kłoszewska, Iwona, Legido-Quigley, Cristina, Lleó, Alberto, Martinez-Lage, Pablo, Mecocci, Patrizia, Meersmans, Karen, Molinuevo, José Luis, Peyratout, Gwendoline, Popp, Julius, Richardson, Jill, Sala, Isabel, Scheltens, Philip, Streffer, Johannes, Soininen, Hikka, Tainta-Cuezva, Mikel, Teunissen, Charlotte, Tsolaki, Magda, Vandenberghe, Rik, Visser, Pieter Jelle, Vos, Stephanie, Wahlund, Lars-Olof, Wallin, Anders, Westwood, Sarah, and Zetterberg, Henrik

Published
2019
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49. Primary fatty amides in plasma associated with brain amyloid burden, hippocampal volume, and memory in the European Medical Information Framework for Alzheimer's Disease biomarker discovery cohort

Author

Kim, Min, Snowden, Stuart, Suvitaival, Tommi, Ali, Ashfaq, Merkler, David J., Ahmad, Tahmina, Westwood, Sarah, Baird, Alison, Proitsi, Petroula, Nevado-Holgado, Alejo, Hye, Abdul, Bos, Isabelle, Vos, Stephanie, Vandenberghe, Rik, Teunissen, Charlotte, ten Kate, Mara, Scheltens, Philip, Gabel, Silvy, Meersmans, Karen, Blin, Olivier, Richardson, Jill, De Roeck, Ellen, Sleegers, Kristel, Bordet, Régis, Rami, Lorena, Kettunen, Petronella, Tsolaki, Magda, Verhey, Frans, Sala, Isabel, Lléo, Alberto, Peyratout, Gwendoline, Tainta, Mikel, Johannsen, Peter, Freund-Levi, Yvonne, Frölich, Lutz, Dobricic, Valerija, Engelborghs, Sebastiaan, Frisoni, Giovanni B., Molinuevo, José L., Wallin, Anders, Popp, Julius, Martinez-Lage, Pablo, Bertram, Lars, Barkhof, Frederik, Ashton, Nicholas, Blennow, Kaj, Zetterberg, Henrik, Streffer, Johannes, Visser, Pieter J., Lovestone, Simon, and Legido-Quigley, Cristina

Published
2019
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50. Cerebrospinal fluid biomarkers of neurodegeneration, synaptic integrity, and astroglial activation across the clinical Alzheimer's disease spectrum

Author

Bos, Isabelle, Vos, Stephanie, Verhey, Frans, Scheltens, Philip, Teunissen, Charlotte, Engelborghs, Sebastiaan, Sleegers, Kristel, Frisoni, Giovanni, Blin, Olivier, Richardson, Jill C., Bordet, Régis, Tsolaki, Magda, Popp, Julius, Peyratout, Gwendoline, Martinez-Lage, Pablo, Tainta, Mikel, Lleó, Alberto, Johannsen, Peter, Freund-Levi, Yvonne, Frölich, Lutz, Vandenberghe, Rik, Westwood, Sarah, Dobricic, Valerija, Barkhof, Frederik, Legido-Quigley, Cristina, Bertram, Lars, Lovestone, Simon, Streffer, Johannes, Andreasson, Ulf, Blennow, Kaj, Zetterberg, Henrik, and Visser, Pieter Jelle

Published
2019
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