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342 results on '"Dobricic, Valerija"'

2. 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

3. TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients

Author

Foddis, Marco, Blumenau, Sonja, Holtgrewe, Manuel, Paquette, Kimberly, Westra, Kaitlyn, Alonso, Isabel, Macario, Maria do Carmo, Morgadinho, Ana Sofia, Velon, Ana Graça, Santo, Gustavo, Santana, Isabel, Mönkäre, Saana, Kuuluvainen, Liina, Schleutker, Johanna, Pöyhönen, Minna, Myllykangas, Liisa, Pavlovic, Aleksandra, Kostic, Vladimir, Dobricic, Valerija, Lohmann, Ebba, Hanagasi, Hasmet, Santos, Mariana, Guven, Gamze, Bilgic, Basar, Bras, Jose, Beule, Dieter, Dirnagl, Ulrich, Guerreiro, Rita, and Sassi, Celeste

Published
2023
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6. 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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7. 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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8. Genetic Risk Factors in Isolated Dystonia Escape Genome‐Wide Association Studies.

Author

Laabs, Björn‐Hergen, Lohmann, Katja, Vollstedt, Eva‐Juliane, Reinberger, Tobias, Nuxoll, Lisa‐Marie, Kilic‐Berkmen, Gamze, Perlmutter, Joel S., Loens, Sebastian, Cruchaga, Carlos, Franke, Andre, Dobricic, Valerija, Hinrichs, Frauke, Grözinger, Anne, Altenmüller, Eckart, Bellows, Steven, Boesch, Sylvia, Bressman, Susan B., Duque, Kevin R., Espay, Alberto J., and Ferbert, Andreas

Abstract

Background: Despite considerable heritability, previous smaller genome‐wide association studies (GWASs) have not identified any robust genetic risk factors for isolated dystonia. Objective: The objective of this study was to perform a large‐scale GWAS in a well‐characterized, multicenter sample of >6000 individuals to identify genetic risk factors for isolated dystonia. Methods: Array‐based GWASs were performed on autosomes for 4303 dystonia participants and 2362 healthy control subjects of European ancestry with subgroup analysis based on age at onset, affected body regions, and a newly developed clinical score. Another 736 individuals were used for validation. Results: This GWAS identified no common genome‐wide significant loci that could be replicated despite sufficient power to detect meaningful effects. Power analyses imply that the effects of individual variants are likely very small. Conclusions: Moderate single‐nucleotide polymorphism–based heritability indicates that common variants do not contribute to isolated dystonia in this cohort. Sequence‐based GWASs (eg, by whole‐genome sequencing) might help to better understand the genetic basis. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

Published
2024
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9. 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, and de Roeck, Ellen

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. [ABSTRACT FROM AUTHOR]

Published
2024
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10. CSF proteomic profiles of neurodegeneration biomarkers in Alzheimer's disease.

Author

Delvenne, Aurore, Gobom, Johan, Schindler, Suzanne E., Kate, Mara ten, Reus, Lianne M., Dobricic, Valerija, Tijms, Betty M., Benzinger, Tammie L. S., Cruchaga, Carlos, Teunissen, Charlotte E., Ramakers, Inez, Martinez‐Lage, Pablo, Tainta, Mikel, Vandenberghe, Rik, Schaeverbeke, Jolien, Engelborghs, Sebastiaan, Roeck, Ellen De, Popp, Julius, Peyratout, Gwendoline, and Tsolaki, Magda

Published
2024
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11. 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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12. 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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13. 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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14. PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J mice

Author

Messerschmidt, Clemens, Foddis, Marco, Blumenau, Sonja, Müller, Susanne, Bentele, Kajetan, Holtgrewe, Manuel, Kun-Rodrigues, Celia, Alonso, Isabel, do Carmo Macario, Maria, Morgadinho, Ana Sofia, Velon, Ana Graça, Santo, Gustavo, Santana, Isabel, Mönkäre, Saana, Kuuluvainen, Liina, Schleutker, Johanna, Pöyhönen, Minna, Myllykangas, Liisa, Senatore, Assunta, Berchtold, Daniel, Winek, Katarzyna, Meisel, Andreas, Pavlovic, Aleksandra, Kostic, Vladimir, Dobricic, Valerija, Lohmann, Ebba, Hanagasi, Hasmet, Guven, Gamze, Bilgic, Basar, Bras, Jose, Guerreiro, Rita, Beule, Dieter, Dirnagl, Ulrich, and Sassi, Celeste

Published
2021
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16. 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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18. 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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19. 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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20. 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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22. Variants in the TERT gene increase the occurrence of solar lentigines by modifying telomerase expression exclusively in the skin

Author

Deecke, Laura, primary, Ohlei, Olena, additional, Homann, Jan, additional, Stagge, Jessica, additional, Dobricic, Valerija, additional, Steinhagen-Thiessen, Elisabeth, additional, Berger, Klaus, additional, Demuth, Ilja, additional, Hagelstein, Victoria, additional, Bertram, Lars, additional, and Lill, Christina M., additional

Published
2023
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23. Blood-based multivariate methylation risk score for cognitive impairment and dementia

Author

Koetsier, Jarno, primary, Cavill, Rachel, additional, Reijnders, Rick A, additional, Harvey, Joshua, additional, Deckers, Kay, additional, Köhler, Sebastian, additional, Eijssen, Lars, additional, Smith, Rebecca G, additional, Smith, Adam R, additional, Burrage, Joe, additional, Walker, Emma M, additional, Shireby, Gemma, additional, Hannon, Eilis, additional, Dempster, Emma, additional, Frayling, Timothy, additional, Mill, Jonathan, additional, Dobricic, Valerija, additional, Sommerer, Yasmine, additional, Johannsen, Peter, additional, Wittig, Michael, additional, Franke, Andre, additional, Vandenberghe, Rick, additional, Schaeverbeke, Jolien, additional, Freund-Levi, Yvonne, additional, Frölich, Lutz, additional, Scheltens, Philip, additional, Teunissen, Charlotte, additional, Frisoni, Giovanni, additional, Blin, Olivier, additional, Richardson, Jill, additional, Bordet, Régis, additional, Engelborghs, Sebastiaan, additional, de Roeck, Ellen, additional, Martinez-Lage, Pablo, additional, Tainta, Mikel, additional, Lleó, Alberto, additional, Sala, Isabel, additional, Popp, Julius, additional, Peyratout, Gwedoline, additional, Verhey, Frans, additional, Tsolaki, Magda, additional, Andreasson, Ulf, additional, Blennow, Kaj, additional, Zetterberg, Henrik, additional, Streffer, Johannes, additional, Vos, Stephanie JB, additional, Lovestone, Simon, additional, Visser, Pieter-Jelle, additional, Bertram, Lars, additional, Lunnon, Katie, additional, and Pishva, Ehsan, additional

Published
2023
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26. APOE ε4 genotype-dependent cerebrospinal fluid proteomic signatures in Alzheimer’s disease

Author

Konijnenberg, Elles, Tijms, Betty M., Gobom, Johan, Dobricic, Valerija, Bos, Isabelle, Vos, Stephanie, Tsolaki, Magda, Verhey, Frans, Popp, Julius, Martinez-Lage, Pablo, Vandenberghe, Rik, Lleó, Alberto, Frölich, Lutz, Lovestone, Simon, Streffer, Johannes, Bertram, Lars, Blennow, Kaj, Teunissen, Charlotte E., Veerhuis, Robert, Smit, August B., Scheltens, Philip, Zetterberg, Henrik, and Visser, Pieter Jelle

Published
2020
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29. Whole-exome rare-variant analysis of Alzheimer's disease and related biomarker traits

Author

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

Abstract

Introduction: Despite increasing evidence of a role of rare genetic variation in the risk of Alzheimer's disease (AD), limited attention has been paid to its contribution to AD-related biomarker traits indicative of AD-relevant pathophysiological processes. Methods: We performed whole-exome gene-based rare-variant association studies (RVASs) of 17 AD-related traits on whole-exome sequencing (WES) data generated in the European Medical Information Framework for Alzheimer's Disease Multimodal Biomarker Discovery (EMIF-AD MBD) study (n = 450) and whole-genome sequencing (WGS) data from ADNI (n = 808). Results: Mutation screening revealed a novel probably pathogenic mutation (PSEN1 p.Leu232Phe). Gene-based RVAS revealed the exome-wide significant contribution of rare coding variation in RBKS and OR7A10 to cognitive performance and protection against left hippocampal atrophy, respectively. Discussion: The identification of these novel gene–trait associations offers new perspectives into the role of rare coding variation in the distinct pathophysiological processes culminating in AD, which may lead to identification of novel therapeutic and diagnostic targets.

Published
2023

31. CSF Proteome Changes Depend on APOE Genotype in Prodromal AD

Author

Vromen, Eleonora M., primary, Wesenhagen, Kirsten E. J., additional, van der Kant, Rik, additional, Gobom, Johan, additional, Scheltens, Philip, additional, Teunissen, Charlotte E., additional, Dobricic, Valerija, additional, Bertram, Lars, additional, Zetterberg, Henrik, additional, Visser, Pieter Jelle, additional, and Tijms, Betty M., additional

Published
2022
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32. Additional file 1 of Entorhinal cortex epigenome-wide association study highlights four novel loci showing differential methylation in Alzheimer’s disease

Author

Sommerer, Yasmine, Dobricic, Valerija, Schilling, Marcel, Ohlei, Olena, Sabet, Sanaz Sedghpour, Wesse, Tanja, Fuß, Janina, Franzenburg, Sören, Franke, Andre, Parkkinen, Laura, Lill, Christina M., and Bertram, Lars

Abstract

Additional file 1: Supplementary Methods. S1. QQ-plots for the results of the AD case-control EWAS (A, λ=1.0005), and the Braak stage EWAS (B, λ=1.0175) in the Oxford datasets. S2. Manhattan plot for the results of the AD case-control EWAS in the Oxford dataset; the red line indicates the experiment-wide significance threshold of 7.51E-08, whereas the purple line indicates the suggestive significance threshold of 1.00E-05. CpGs with suggestively significant association are marked in purple and annotated with the gene name according to the Illumina manifest (v1.0 B5). NB that three CpGs (on chr. 8 and chr. 14 were not annotated to any genes). S3. Manhattan plot for the results of the AD Braak stage EWAS in the Oxford dataset; the red line indicates the experiment-wide significance threshold of 7.51E-8, whereas the purple line indicates the suggestive significance threshold of 1.00E-05. CpGs with suggestively significant association are marked in purple and annotated with the gene name according to the Illumina manifest (v1.0 B5). NB that one CpG (on chr. 14 was not annotated to any genes). S4. QQ-plots for the results of the AD case-control meta-EWAS (A, λ=1.16), and the Braak stage meta-EWAS (B, λ =1.24) with fixed-effect models across three datasets (London-1, London-2, Oxford). S5. QQ-plots for the results of the AD case-control meta-EWAS (A, λ=0.92), and the Braak stage meta-EWAS (B, λ =1.00) with random-effect models across three datasets (London-1, London-2, Oxford). S6. Scree plots for the results of a principal component analysis (PCA) on DNAm using binned CpGs in the Oxford (A, n=149 samples), London-1 (B, n=104 samples) and London-2 (C, n=92 samples) datasets. For the main EWAS analyses reported in this paper we selected n=13, n=13, n=15 PCs for the Oxford, London-1, and London-2, datasets, respectively, to account for known and unknown confounders of DNAm in these samples.

Published
2023
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33. Whole‐exome rare‐variant analysis of Alzheimer's disease and related biomarker traits

Author

Alzheimer's Disease Neuroimaging Initiative (ADNI), Küçükali, Fahri, Neumann, Alexander, Van Dongen, Jasper, De Pooter, Tim, Joris, Geert, De Rijk, Peter, Ohlei, Olena, Dobricic, Valerija, Bos, Isabelle, Vos, Stephanie J B, Engelborghs, Sebastiaan, De Roeck, Ellen, Vandenberghe, Rik, Gabel, Silvy, Meersmans, Karen, Tsolaki, Magda, Verhey, Frans, Martinez-Lage, Pablo, Tainta, Mikel, Frisoni, Giovanni, Blin, Oliver, Richardson, Jill C, Bordet, Régis, Scheltens, Philip, Popp, Julius, Peyratout, Gwendoline, Johannsen, Peter, Frölich, Lutz, Freund-Levi, Yvonne, Streffer, Johannes, Lovestone, Simon, Legido-Quigley, Cristina, Kate, Mara Ten, Barkhof, Frederik, Zetterberg, Henrik, Bertram, Lars, Strazisar, Mojca, Visser, Pieter Jelle, Van Broeckhoven, Christine, Sleegers, Kristel, Alzheimer’s Disease Neuroimaging Initiative (ADNI), EMIF-ADStudyGroup, Epidemiology, Psychiatrie & Neuropsychologie, RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Clinical sciences, Neuroprotection & Neuromodulation, Neurology, Amsterdam Neuroscience - Neurodegeneration, Radiology and nuclear medicine, Amsterdam Neuroscience - Brain Imaging, and Amsterdam Neuroscience - Neuroinfection & -inflammation

Subjects
D-RIBOSE, Epidemiology, Endophenotypes, Neuroscience(all), Clinical Neurology, ABCA7, Cellular and Molecular Neuroscience, Developmental Neuroscience, SDG 3 - Good Health and Well-being, GWAS, whole-exome sequencing, GENOME-WIDE ASSOCIATION, METAANALYSIS, Science & Technology, ENDOPHENOTYPES, MUTATIONS, Health Policy, neurology, biomarkers, rare coding variants, Alzheimer's disease, FRAMEWORK, Psychiatry and Mental health, Whole-exome sequencing, COGNITIVE DECLINE, Neurology (clinical), Neurosciences & Neurology, Human medicine, Geriatrics and Gerontology, Life Sciences & Biomedicine
Abstract

INTRODUCTION: Despite increasing evidence of a role of rare genetic variation in the risk of Alzheimer's disease (AD), limited attention has been paid to its contribution to AD-related biomarker traits indicative of AD-relevant pathophysiological processes. METHODS: We performed whole-exome gene-based rare-variant association studies (RVASs) of 17 AD-related traits on whole-exome sequencing (WES) data generated in the European Medical Information Framework for Alzheimer's Disease Multimodal Biomarker Discovery (EMIF-AD MBD) study (n = 450) and whole-genome sequencing (WGS) data from ADNI (n = 808). RESULTS: Mutation screening revealed a novel probably pathogenic mutation (PSEN1 p.Leu232Phe). Gene-based RVAS revealed the exome-wide significant contribution of rare coding variation in RBKS and OR7A10 to cognitive performance and protection against left hippocampal atrophy, respectively. DISCUSSION: The identification of these novel gene-trait associations offers new perspectives into the role of rare coding variation in the distinct pathophysiological processes culminating in AD, which may lead to identification of novel therapeutic and diagnostic targets. ispartof: ALZHEIMERS & DEMENTIA vol:19 issue:6 ispartof: location:United States status: Published online

Published
2023
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34. Epigenome-Wide Association Study in Peripheral Tissues Highlights DNA Methylation Profiles Associated with Episodic Memory Performance in Humans

Author

Sommerer, Yasmine, primary, Dobricic, Valerija, additional, Schilling, Marcel, additional, Ohlei, Olena, additional, Bartrés-Faz, David, additional, Cattaneo, Gabriele, additional, Demuth, Ilja, additional, Düzel, Sandra, additional, Franzenburg, Sören, additional, Fuß, Janina, additional, Lindenberger, Ulman, additional, Pascual-Leone, Álvaro, additional, Sabet, Sanaz Sedghpour, additional, Solé-Padullés, Cristina, additional, Tormos, Josep M., additional, Vetter, Valentin Max, additional, Wesse, Tanja, additional, Franke, Andre, additional, Lill, Christina M., additional, and Bertram, Lars, additional

Published
2022
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37. MRI predictors of amyloid pathology: results from the EMIF-AD Multimodal Biomarker Discovery study

Author

ten Kate, Mara, Redolfi, Alberto, Peira, Enrico, Bos, Isabelle, Vos, Stephanie J., Vandenberghe, Rik, Gabel, Silvy, Schaeverbeke, Jolien, Scheltens, Philip, Blin, Olivier, Richardson, Jill C., Bordet, Regis, Wallin, Anders, Eckerstrom, Carl, Molinuevo, José Luis, Engelborghs, Sebastiaan, Van Broeckhoven, Christine, Martinez-Lage, Pablo, Popp, Julius, Tsolaki, Magdalini, Verhey, Frans R. J., Baird, Alison L., Legido-Quigley, Cristina, Bertram, Lars, Dobricic, Valerija, Zetterberg, Henrik, Lovestone, Simon, Streffer, Johannes, Bianchetti, Silvia, Novak, Gerald P., Revillard, Jerome, Gordon, Mark F., Xie, Zhiyong, Wottschel, Viktor, Frisoni, Giovanni, Visser, Pieter Jelle, and Barkhof, Frederik

Published
2018
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38. TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patients

Author

Foddis, Marco, primary, Blumenau, Sonja, additional, Holtgrewe, Manuel, additional, Paquette, Kimberly, additional, Westra, Kaitlyn, additional, Alonso, Isabel, additional, Macario, Maria Carmo, additional, Morgadinho, Ana Sofia, additional, Velon, Ana Graça, additional, Santo, Gustavo, additional, Santana, Isabel, additional, Mönkäre, Saana, additional, Kuuluvainen, Liina, additional, Schleutker, Johanna, additional, Pöyhönen, Minna, additional, Myllykangas, Liisa, additional, Pavlovic, Aleksandra, additional, Kostic, Vladimir, additional, Dobricic, Valerija, additional, Lohmann, Ebba, additional, Hanagasi, Hasmet, additional, Santos, Mariana, additional, Guven, Gamze, additional, Bilgic, Basar, additional, Bras, Jose, additional, Beule, Dieter, additional, Dirnagl, Ulrich, additional, Guerreiro, Rita, additional, and Sassi, Celeste, additional

Published
2022
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39. Cerebrospinal fluid proteomic profiling of individuals with mild cognitive impairment and suspected non‐Alzheimer's disease pathophysiology

Author

Delvenne, Aurore, primary, Gobom, Johan, additional, Tijms, Betty, additional, Bos, Isabelle, additional, Reus, Lianne M., additional, Dobricic, Valerija, additional, Kate, Mara ten, additional, Verhey, Frans, additional, Ramakers, Inez, additional, Scheltens, Philip, additional, Teunissen, Charlotte E., additional, Vandenberghe, Rik, additional, Schaeverbeke, Jolien, additional, Gabel, Silvy, additional, Popp, Julius, additional, Peyratout, Gwendoline, additional, Martinez‐Lage, Pablo, additional, Tainta, Mikel, additional, Tsolaki, Magda, additional, Freund‐Levi, Yvonne, additional, Lovestone, Simon, additional, Streffer, Johannes, additional, Barkhof, Frederik, additional, Bertram, Lars, additional, Blennow, Kaj, additional, Zetterberg, Henrik, additional, Visser, Pieter Jelle, additional, and Vos, Stephanie J. B., additional

Published
2022
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41. Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans

Author

Lohmann, Katja, Masuho, Ikuo, Patil, Dipak N., Baumann, Hauke, Hebert, Eva, Steinrücke, Sofia, Trujillano, Daniel, Skamangas, Nickolas K., Dobricic, Valerija, Hüning, Irina, Gillessen-Kaesbach, Gabriele, Westenberger, Ana, Savic-Pavicevic, Dusanka, Münchau, Alexander, Oprea, Gabriela, Klein, Christine, Rolfs, Arndt, and Martemyanov, Kirill A.

Published
2017
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42. Cerebrospinal fluid proteomic profiling of individuals with mild cognitive impairment and suspected non‐Alzheimer's disease pathophysiology.

Author

Delvenne, Aurore, Gobom, Johan, Tijms, Betty, Bos, Isabelle, Reus, Lianne M., Dobricic, Valerija, Kate, Mara ten, Verhey, Frans, Ramakers, Inez, Scheltens, Philip, Teunissen, Charlotte E., Vandenberghe, Rik, Schaeverbeke, Jolien, Gabel, Silvy, Popp, Julius, Peyratout, Gwendoline, Martinez‐Lage, Pablo, Tainta, Mikel, Tsolaki, Magda, and Freund‐Levi, Yvonne

Abstract

Background: Suspected non‐Alzheimer's disease pathophysiology (SNAP) is a biomarker concept that encompasses individuals with neuronal injury but without amyloidosis. We aim to investigate the pathophysiology of SNAP, defined as abnormal tau without amyloidosis, in individuals with mild cognitive impairment (MCI) by cerebrospinal fluid (CSF) proteomics. Methods: Individuals were classified based on CSF amyloid beta (Aβ)1‐42 (A) and phosphorylated tau (T), as cognitively normal A—T– (CN), MCI A–T+ (MCI‐SNAP), and MCI A+T+ (MCI‐AD). Proteomics analyses, Gene Ontology (GO), brain cell expression, and gene expression analyses in brain regions of interest were performed. Results: A total of 96 proteins were decreased in MCI‐SNAP compared to CN and MCI‐AD. These proteins were enriched for extracellular matrix (ECM), hemostasis, immune system, protein processing/degradation, lipids, and synapse. Fifty‐one percent were enriched for expression in the choroid plexus. Conclusion: The pathophysiology of MCI‐SNAP (A–T+) is distinct from that of MCI‐AD. Our findings highlight the need for a different treatment in MCI‐SNAP compared to MCI‐AD. [ABSTRACT FROM AUTHOR]

Published
2023
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44. Genome-Wide Association Study of Alzheimer’s Disease Brain Imaging Biomarkers and Neuropsychological Phenotypes in the European Medical Information Framework for Alzheimer’s Disease Multimodal Biomarker Discovery Dataset

Author

Homann, Jan, primary, Osburg, Tim, additional, Ohlei, Olena, additional, Dobricic, Valerija, additional, Deecke, Laura, additional, Bos, Isabelle, additional, Vandenberghe, Rik, additional, Gabel, Silvy, additional, Scheltens, Philip, additional, Teunissen, Charlotte E., additional, Engelborghs, Sebastiaan, additional, Frisoni, Giovanni, additional, Blin, Olivier, additional, Richardson, Jill C., additional, Bordet, Regis, additional, Lleó, Alberto, additional, Alcolea, Daniel, additional, Popp, Julius, additional, Clark, Christopher, additional, Peyratout, Gwendoline, additional, Martinez-Lage, Pablo, additional, Tainta, Mikel, additional, Dobson, Richard J. B., additional, Legido-Quigley, Cristina, additional, Sleegers, Kristel, additional, Van Broeckhoven, Christine, additional, Wittig, Michael, additional, Franke, Andre, additional, Lill, Christina M., additional, Blennow, Kaj, additional, Zetterberg, Henrik, additional, Lovestone, Simon, additional, Streffer, Johannes, additional, ten Kate, Mara, additional, Vos, Stephanie J. B., additional, Barkhof, Frederik, additional, Visser, Pieter Jelle, additional, and Bertram, Lars, additional

Published
2022
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45. Additional file 2 of 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.

Subjects
mental disorders, sense organs
Abstract

Additional file 2: Figure S1. Longitudinal change in CSF total tau. Figure S2. Enrichment of synaptic processes in individuals with AD according to t-tau status. Figure S3. Enriched GO biological processes and SUZ12 and REST transcription factors associated with proteins that differed between AD individuals with increased t-tau and normal t-tau and proteins that changed with disease severity.

Published
2022
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47. Clinical exome sequencing in Serbian patients with movement disorders: Single centre experience

Author

Brankovic, Marija, primary, Dragasevic, Natasa, additional, Dobricic, Valerija, additional, Maver, Ales, additional, Bergant, Gaber, additional, Petrovic, Igor, additional, Peric, Stojan, additional, Marjanovic, Ana, additional, Jankovic, Milena, additional, Jancic, Jasna, additional, Novakovic, Ivana, additional, Peterlin, Borut, additional, Svetel, Marina, additional, and Kostic, Vladimir, additional

Published
2022
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49. C9ORF72 repeat expansion is not associated with atypical parkinsonism in the Serbian population

Author

Marjanovic, Ana, primary, Dobricic, Valerija, additional, Jecmenica-Lukic, Milica, additional, Stankovic, Iva, additional, Milicevic, Ognjen, additional, Dragasevic-Miskovic, Natasa, additional, Brankovic, Marija, additional, Jankovic, Milena, additional, Novakovic, Ivana, additional, Svetel, Marina, additional, Stefanova, Elka, additional, and Kostic, Vladimir, additional

Published
2022
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50. Genome-wide association study of Alzheimer's disease brain imaging biomarkers and neuropsychological phenotypes in the EMIF-AD Multimodal Biomarker Discovery dataset

Author

Homann, Jan, primary, Osburg, Tim, additional, Ohlei, Olena, additional, Dobricic, Valerija, additional, Deecke, Laura, additional, Bos, Isabelle, additional, Vandenberghe, Rik, additional, Gabel, Silvy, additional, Scheltens, Philip, additional, Teunissen, Charlotte E., additional, Engelborghs, Sebastiaan, additional, Frisoni, Giovanni, additional, Blin, Olivier, additional, Richardson, Jill C., additional, Bordet, Regis, additional, Lleo, Alberto, additional, Alcolea, Daniel, additional, Popp, Julius, additional, Clark, Christopher, additional, Peyratout, Gwendoline, additional, Martinez-Lage, Pablo, additional, Tainta, Mikel, additional, Dobson, Richard J. B., additional, Legido-Quigley, Cristina, additional, Sleegers, Kristel, additional, Van Broeckhoven, Christine, additional, Wittig, Michael, additional, Franke, Andre, additional, Lill, Christina M., additional, Blennow, Kaj, additional, Zetterberg, Henrik, additional, Lovestone, Simon, additional, Streffer, Johannes, additional, ten Kate, Mara, additional, Vos, Stephanie J. B., additional, Barkhof, Frederik, additional, Visser, Pieter Jelle, additional, and Bertram, Lars, additional

Published
2021
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