Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease.

Autor: Johanna Jakobsdottir, Sven J van der Lee, Joshua C Bis, Vincent Chouraki, David Li-Kroeger, Shinya Yamamoto, Megan L Grove, Adam Naj, Maria Vronskaya, Jose L Salazar, Anita L DeStefano, Jennifer A Brody, Albert V Smith, Najaf Amin, Rebecca Sims, Carla A Ibrahim-Verbaas, Seung-Hoan Choi, Claudia L Satizabal, Oscar L Lopez, Alexa Beiser, M Arfan Ikram, Melissa E Garcia, Caroline Hayward, Tibor V Varga, Samuli Ripatti, Paul W Franks, Göran Hallmans, Olov Rolandsson, Jan-Håkon Jansson, David J Porteous, Veikko Salomaa, Gudny Eiriksdottir, Kenneth M Rice, Hugo J Bellen, Daniel Levy, Andre G Uitterlinden, Valur Emilsson, Jerome I Rotter, Thor Aspelund, Cohorts for Heart and Aging Research in Genomic Epidemiology consortium, Alzheimer’s Disease Genetic Consortium, Genetic and Environmental Risk in Alzheimer’s Disease consortium, Christopher J O'Donnell, Annette L Fitzpatrick, Lenore J Launer, Albert Hofman, Li-San Wang, Julie Williams, Gerard D Schellenberg, Eric Boerwinkle, Bruce M Psaty, Sudha Seshadri, Joshua M Shulman, Vilmundur Gudnason, Cornelia M van Duijn

Publikováno v: PLoS Genetics, Vol 12, Iss 10, p e1006327 (2016)

We performed an exome-wide association analysis in 1393 late-onset Alzheimer's disease (LOAD) cases and 8141 controls from the CHARGE consortium. We found that a rare variant (P155L) in TM2D3 was enriched in Icelanders (~0.5% versus

Externí odkaz: https://doaj.org/article/03cd00851ca345d0aedc6937fe264fab

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

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

Publikováno v: Molecular Neurodegeneration, Vol 17, Iss 1, Pp 1-16 (2022)

Abstract Background Increased total tau (t-tau) in cerebrospinal fluid (CSF) is a key characteristic of Alzheimer’s disease (AD) and is considered to result from neurodegeneration. T-tau levels, however, can be increased in very early disease stage

Externí odkaz: https://doaj.org/article/4927a15981844155bce3ce2b9e6f5832

The association of vascular disorders with incident dementia in different age groups

Autor: Nienke Legdeur, Sven J. van der Lee, Marcel de Wilde, Johan van der Lei, Majon Muller, Andrea B. Maier, Pieter Jelle Visser

Publikováno v: Alzheimer’s Research & Therapy, Vol 11, Iss 1, Pp 1-8 (2019)

Abstract Background There is increasing evidence that dementia risk associated with vascular disorders is age dependent. Large population-based studies of incident dementia are necessary to further elucidate this effect. Therefore, the aim of the pre

Externí odkaz: https://doaj.org/article/37980cd596ab48d5b820d0cac0734b66

Association of low-frequency and rare coding variants with information processing speed

Autor: Jan Bressler, Gail Davies, Albert V. Smith, Yasaman Saba, Joshua C. Bis, Xueqiu Jian, Caroline Hayward, Lisa Yanek, Jennifer A. Smith, Saira S. Mirza, Ruiqi Wang, Hieab H. H. Adams, Diane Becker, Eric Boerwinkle, Archie Campbell, Simon R. Cox, Gudny Eiriksdottir, Chloe Fawns-Ritchie, Rebecca F. Gottesman, Megan L. Grove, Xiuqing Guo, Edith Hofer, Sharon L. R. Kardia, Maria J. Knol, Marisa Koini, Oscar L. Lopez, Riccardo E. Marioni, Paul Nyquist, Alison Pattie, Ozren Polasek, David J. Porteous, Igor Rudan, Claudia L. Satizabal, Helena Schmidt, Reinhold Schmidt, Stephen Sidney, Jeannette Simino, Blair H. Smith, Stephen T. Turner, Sven J. van der Lee, Erin B. Ware, Rachel A. Whitmer, Kristine Yaffe, Qiong Yang, Wei Zhao, Vilmundur Gudnason, Lenore J. Launer, Annette L. Fitzpatrick, Bruce M. Psaty, Myriam Fornage, M. Arfan Ikram, Cornelia M. van Duijn, Sudha Seshadri, Thomas H. Mosley, Ian J. Deary

Publikováno v: Translational Psychiatry, Vol 11, Iss 1, Pp 1-7 (2021)
Bressler, J, Smith, A V, Saba, Y, Bis, J C, Jian, X, Hayward, C, Yanek, L, Mirza, S S, Wang, R, Adams, H H H, Becker, D, Boerwinkle, E, Campbell, A, Cox, S R, Eiriksdottir, G, Fawns-Ritchie, C, Gottesman, R F, Grove, M L, Guo, X, Hofer, E, Kardia, S L R, Knol, M J, Koini, M, Lopez, O L, Marioni, R E, Nyquist, P, Pattie, A, Polasek, O, Porteous, D J, Rudan, I, Satizabal, C L, Schmidt, H, Schmidt, R, Sidney, S, Simino, J, Smith, B H, van der Lee, S J, Ware, E B, Whitmer, R A, Yaffe, K, Yang, Q, Zhao, W, Gudnason, V, Launer, L J, Fitzpatrick, A L, Psaty, B M, Fornage, M, Arfan Ikram, M, van Duijn, C M, Seshadri, S, Mosley, T H & Deary, I J 2021, ' Association of low-frequency and rare coding variants with information processing speed ', Translational Psychiatry, vol. 11, no. 1, pp. 613 . https://doi.org/10.1038/s41398-021-01736-6
Bressler, J, Davies, G, Smith, A V, Saba, Y, Bis, J C, Jian, X, Hayward, C, Yanek, L, Smith, J A, Mirza, S S, Wang, R, Adams, H H H, Becker, D, Boerwinkle, E, Campbell, A, Cox, S R, Eiriksdottir, G, Fawns-Ritchie, C, Gottesman, R F, Grove, M L, Guo, X, Hofer, E, Kardia, S L R, Knol, M J, Koini, M, Lopez, O L, Marioni, R E, Nyquist, P, Pattie, A, Polasek, O, Porteous, D J, Rudan, I, Satizabal, C L, Schmidt, H, Schmidt, R, Sidney, S, Simino, J, Smith, B H, Turner, S T, van der Lee, S J, Ware, E B, Whitmer, R A, Yaffe, K, Yang, Q, Zhao, W, Gudnason, V, Launer, L J, Fitzpatrick, A L, Psaty, B M, Fornage, M, Arfan Ikram, M, van Duijn, C M, Seshadri, S, Mosley, T H & Deary, I J 2021, ' Association of low-frequency and rare coding variants with information processing speed ', Translational psychiatry, vol. 11, no. 1, 613 . https://doi.org/10.1038/s41398-021-01736-6
Translational Psychiatry, 11(1):613. Nature Publishing Group
Translational psychiatry, vol 11, iss 1
Translational Psychiatry
Translational psychiatry, 11(1):613

Measures of information processing speed vary between individuals and decline with age. Studies of aging twins suggest heritability may be as high as 67%. The Illumina HumanExome Bead Chip genotyping array was used to examine the association of rare

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ee298e5b5935287ebe8898ff1fb8724
https://doaj.org/article/b1ae881b412647eaa718f34bae527e8b

Shorter disease duration in females with sporadic frontotemporal dementia

Autor: Sterre C.M. de Boer, Lina Riedl, Sven J Van der lee, Markus Otto, Sarah Anderl‐Straub, Ramon Landin‐Romero, Federica Sorrentino, Jay L.P. Fieldhouse, Lianne M. Reus, Glenda M Halliday, Daniela Galimberti, Janine Diehl‐Schmid, Simon Ducharme, Olivier Piguet, Yolande A.L. Pijnenburg

Publikováno v: Alzheimer's & Dementia. 18

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c44895635c402618970c9466b5612929
https://doi.org/10.1002/alz.067557