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21 results on '"Seshadri S."'

1. Genetic overlap between Alzheimer’s disease and Parkinson’s disease at the MAPT locus

Author

Desikan, RS, Schork, AJ, Wang, Y, Witoelar, A, Sharma, M, McEvoy, LK, Holland, D, Brewer, JB, Chen, C-H, Thompson, WK, Harold, D, Williams, J, Owen, MJ, O'Donovan, MC, Pericak-Vance, MA, Mayeux, R, Haines, JL, Farrer, LA, Schellenberg, GD, Heutink, P, Singleton, AB, Brice, A, Wood, NW, Hardy, J, Martinez, M, Choi, SH, DeStefano, A, Ikram, MA, Bis, JC, Smith, A, Fitzpatrick, AL, Launer, L, van Duijn, C, Seshadri, S, Ulstein, ID, Aarsland, D, Fladby, T, Djurovic, S, Hyman, BT, Snaedal, J, Stefansson, H, Stefansson, K, Gasser, T, Andreassen, OA, and Dale, AM

Subjects
Biomedical and Clinical Sciences, Biological Psychology, Clinical and Health Psychology, Clinical Sciences, Psychology, Human Genome, Brain Disorders, Neurosciences, Neurodegenerative, Parkinson's Disease, Prevention, Aging, Alzheimer's Disease, Dementia, Genetics, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Acquired Cognitive Impairment, 2.1 Biological and endogenous factors, Aetiology, Neurological, Aged, Aged, 80 and over, Alleles, Alzheimer Disease, Apolipoproteins E, Brain, Chromosomes, Human, Pair 17, Female, Genetic Loci, Genetic Pleiotropy, Genome-Wide Association Study, Humans, Male, Middle Aged, Parkinson Disease, Polymorphism, Single Nucleotide, tau Proteins, ADNI, ADGC, GERAD, CHARGE and IPDGC Investigators, Biological Sciences, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Clinical sciences, Biological psychology, Clinical and health psychology
Abstract

We investigated the genetic overlap between Alzheimer's disease (AD) and Parkinson's disease (PD). Using summary statistics (P-values) from large recent genome-wide association studies (GWAS) (total n=89 904 individuals), we sought to identify single nucleotide polymorphisms (SNPs) associating with both AD and PD. We found and replicated association of both AD and PD with the A allele of rs393152 within the extended MAPT region on chromosome 17 (meta analysis P-value across five independent AD cohorts=1.65 × 10(-7)). In independent datasets, we found a dose-dependent effect of the A allele of rs393152 on intra-cerebral MAPT transcript levels and volume loss within the entorhinal cortex and hippocampus. Our findings identify the tau-associated MAPT locus as a site of genetic overlap between AD and PD, and extending prior work, we show that the MAPT region increases risk of Alzheimer's neurodegeneration.

Published
2015

2. GWAS for executive function and processing speed suggests involvement of the CADM2 gene

Author

Ibrahim-Verbaas, C A, Bressler, J, Debette, S, Schuur, M, Smith, A V, Bis, J C, Davies, G, Trompet, S, Smith, J A, Wolf, C, Chibnik, L B, Liu, Y, Vitart, V, Kirin, M, Petrovic, K, Polasek, O, Zgaga, L, Fawns-Ritchie, C, Hoffmann, P, Karjalainen, J, Lahti, J, Llewellyn, D J, Schmidt, C O, Mather, K A, Chouraki, V, Sun, Q, Resnick, S M, Rose, L M, Oldmeadow, C, Stewart, M, Smith, B H, Gudnason, V, Yang, Q, Mirza, S S, Jukema, J W, deJager, P L, Harris, T B, Liewald, D C, Amin, N, Coker, L H, Stegle, O, Lopez, O L, Schmidt, R, Teumer, A, Ford, I, Karbalai, N, Becker, J T, Jonsdottir, M K, Au, R, Fehrmann, R S N, Herms, S, Nalls, M, Zhao, W, Turner, S T, Yaffe, K, Lohman, K, van Swieten, J C, Kardia, S L R, Knopman, D S, Meeks, W M, Heiss, G, Holliday, E G, Schofield, P W, Tanaka, T, Stott, D J, Wang, J, Ridker, P, Gow, A J, Pattie, A, Starr, J M, Hocking, L J, Armstrong, N J, McLachlan, S, Shulman, J M, Pilling, L C, Eiriksdottir, G, Scott, R J, Kochan, N A, Palotie, A, Hsieh, Y-C, Eriksson, J G, Penman, A, Gottesman, R F, Oostra, B A, Yu, L, DeStefano, A L, Beiser, A, Garcia, M, Rotter, J I, Nöthen, M M, Hofman, A, Slagboom, P E, Westendorp, R G J, Buckley, B M, Wolf, P A, Uitterlinden, A G, Psaty, B M, Grabe, H J, Bandinelli, S, Chasman, D I, Grodstein, F, Räikkönen, K, Lambert, J-C, Porteous, D J, Price, J F, Sachdev, P S, Ferrucci, L, Attia, J R, Rudan, I, Hayward, C, Wright, A F, Wilson, J F, Cichon, S, Franke, L, Schmidt, H, Ding, J, de Craen, A J M, Fornage, M, Bennett, D A, Deary, I J, Ikram, M A, Launer, L J, Fitzpatrick, A L, Seshadri, S, van Duijn, C M, and Mosley, T H

Published
2016
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3. A novel Alzheimer disease locus located near the gene encoding tau protein

Author

Jun, G, Ibrahim-Verbaas, C A, Vronskaya, M, Lambert, J-C, Chung, J, Naj, A C, Kunkle, B W, Wang, L-S, Bis, J C, Bellenguez, C, Harold, D, Lunetta, K L, Destefano, A L, Grenier-Boley, B, Sims, R, Beecham, G W, Smith, A V, Chouraki, V, Hamilton-Nelson, K L, Ikram, M A, Fievet, N, Denning, N, Martin, E R, Schmidt, H, Kamatani, Y, Dunstan, M L, Valladares, O, Laza, A R, Zelenika, D, Ramirez, A, Foroud, T M, Choi, S-H, Boland, A, Becker, T, Kukull, W A, van der Lee, S J, Pasquier, F, Cruchaga, C, Beekly, D, Fitzpatrick, A L, Hanon, O, Gill, M, Barber, R, Gudnason, V, Campion, D, Love, S, Bennett, D A, Amin, N, Berr, C, Tsolaki, Magda, Buxbaum, J D, Lopez, O L, Deramecourt, V, Fox, N C, Cantwell, L B, Tárraga, L, Dufouil, C, Hardy, J, Crane, P K, Eiriksdottir, G, Hannequin, D, Clarke, R, Evans, D, Mosley, Jr., T H, Letenneur, L, Brayne, C, Maier, W, De Jager, P, Emilsson, V, Dartigues, J-F, Hampel, H, Kamboh, M I, de Bruijn, R F A G, Tzourio, C, Pastor, P, Larson, E B, Rotter, J I, O'Donovan, M C, Montine, T J, Nalls, M A, Mead, S, Reiman, E M, Jonsson, P V, Holmes, C, St George-Hyslop, P H, Boada, M, Passmore, P, Wendland, J R, Schmidt, R, Morgan, K, Winslow, A R, Powell, J F, Carasquillo, M, Younkin, S G, Jakobsdóttir, J, Kauwe, J S K, Wilhelmsen, K C, Rujescu, D, Nöthen, M M, Hofman, A, Jones, L, Haines, J L, Psaty, B M, Van Broeckhoven, C, Holmans, P, Launer, L J, Mayeux, R, Lathrop, M, Goate, A M, Escott-Price, V, Seshadri, S, Pericak-Vance, M A, Amouyel, P, Williams, J, van Duijn, C M, Schellenberg, G D, and Farrer, L A

Published
2016
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5. Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53 949)

Author

Davies, G, Armstrong, N, Bis, J C, Bressler, J, Chouraki, V, Giddaluru, S, Hofer, E, Ibrahim-Verbaas, C A, Kirin, M, Lahti, J, van der Lee, S J, Le Hellard, S, Liu, T, Marioni, R E, Oldmeadow, C, Postmus, I, Smith, A V, Smith, J A, Thalamuthu, A, Thomson, R, Vitart, V, Wang, J, Yu, L, Zgaga, L, Zhao, W, Boxall, R, Harris, S E, Hill, W D, Liewald, D C, Luciano, M, Adams, H, Ames, D, Amin, N, Amouyel, P, Assareh, A A, Au, R, Becker, J T, Beiser, A, Berr, C, Bertram, L, Boerwinkle, E, Buckley, B M, Campbell, H, Corley, J, De Jager, P L, Dufouil, C, Eriksson, J G, Espeseth, T, Faul, J D, Ford, I, Scotland, Generation, Gottesman, R F, Griswold, M E, Gudnason, V, Harris, T B, Heiss, G, Hofman, A, Holliday, E G, Huffman, J, Kardia, S L R, Kochan, N, Knopman, D S, Kwok, J B, Lambert, J-C, Lee, T, Li, G, Li, S-C, Loitfelder, M, Lopez, O L, Lundervold, A J, Lundqvist, A, Mather, K A, Mirza, S S, Nyberg, L, Oostra, B A, Palotie, A, Papenberg, G, Pattie, A, Petrovic, K, Polasek, O, Psaty, B M, Redmond, P, Reppermund, S, Rotter, J I, Schmidt, H, Schuur, M, Schofield, P W, Scott, R J, Steen, V M, Stott, D J, van Swieten, J C, Taylor, K D, Trollor, J, Trompet, S, Uitterlinden, A G, Weinstein, G, Widen, E, Windham, B G, Jukema, J W, Wright, A F, Wright, M J, Yang, Q, Amieva, H, Attia, J R, Bennett, D A, Brodaty, H, de Craen, A J M, Hayward, C, Ikram, M A, Lindenberger, U, Nilsson, L-G, Porteous, D J, Räikkönen, K, Reinvang, I, Rudan, I, Sachdev, P S, Schmidt, R, Schofield, P R, Srikanth, V, Starr, J M, Turner, S T, Weir, D R, Wilson, J F, van Duijn, C, Launer, L, Fitzpatrick, A L, Seshadri, S, Mosley, Jr, T H, and Deary, I J

Published
2015
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6. Allelic differences between Europeans and Chinese for CREB1 SNPs and their implications in gene expression regulation, hippocampal structure and function, and bipolar disorder susceptibility

Author

Li, M, Luo, X-j, Rietschel, M, Lewis, C M, Mattheisen, M, Müller-Myhsok, B, Jamain, S, Leboyer, M, Landén, M, Thompson, P M, Cichon, S, Nöthen, M M, Schulze, T G, Sullivan, P F, Bergen, S E, Donohoe, G, Morris, D W, Hargreaves, A, Gill, M, Corvin, A, Hultman, C, Toga, A W, Shi, L, Lin, Q, Shi, H, Gan, L, Meyer-Lindenberg, A, Czamara, D, Henry, C, Etain, B, Bis, J C, Ikram, M A, Fornage, M, Debette, S, Launer, L J, Seshadri, S, Erk, S, Walter, H, Heinz, A, Bellivier, F, Stein, J L, Medland, S E, Arias Vasquez, A, Hibar, D P, Franke, B, Martin, N G, Wright, M J, and Su, B

Published
2014
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7. Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N = 53 949)

Author

Davies, G, Armstrong, N, Bis, J C, Bressler, J, Chouraki, V, Giddaluru, S, Hofer, E, Ibrahim-Verbaas, C A, Kirin, M, Lahti, J, van der Lee, S J, Le Hellard, S, Liu, T, Marioni, R E, Oldmeadow, C, Postmus, I, Smith, A V, Smith, J A, Thalamuthu, A, Thomson, R, Vitart, V, Wang, J, Yu, L, Zgaga, L, Zhao, W, Boxall, R, Harris, S E, Hill, W D, Liewald, D C, Luciano, M, Adams, H, Ames, D, Amin, N, Amouyel, P, Assareh, A A, Au, R, Becker, J T, Beiser, A, Berr, C, Bertram, L, Boerwinkle, E, Buckley, B M, Campbell, H, Corley, J, De Jager, P L, Dufouil, C, Eriksson, J G, Espeseth, T, Faul, J D, Ford, I, Scotland, Generation, Gottesman, R F, Griswold, M E, Gudnason, V, Harris, T B, Heiss, G, Hofman, A, Holliday, E G, Huffman, J, Kardia, S LR, Kochan, N, Knopman, D S, Kwok, J B, Lambert, J-C, Lee, T, Li, G, Li, S-C, Loitfelder, M, Lopez, O L, Lundervold, A J, Lundqvist, A, Mather, K A, Mirza, S S, Nyberg, L, Oostra, B A, Palotie, A, Papenberg, G, Pattie, A, Petrovic, K, Polasek, O, Psaty, B M, Redmond, P, Reppermund, S, Rotter, J I, Schmidt, H, Schuur, M, Schofield, P W, Scott, R J, Steen, V M, Stott, D J, van Swieten, J C, Taylor, K D, Trollor, J, Trompet, S, Uitterlinden, A G, Weinstein, G, Widen, E, Windham, B G, Jukema, J W, Wright, A F, Wright, M J, Yang, Q, Amieva, H, Attia, J R, Bennett, D A, Brodaty, H, de Craen, A JM, Hayward, C, Ikram, M A, Lindenberger, U, Nilsson, L-G, Porteous, D J, Räikkönen, K, Reinvang, I, Rudan, I, Sachdev, P S, Schmidt, R, Schofield, P R, Srikanth, V, Starr, J M, Turner, S T, Weir, D R, Wilson, J F, van Duijn, C, Launer, L, Fitzpatrick, A L, Seshadri, S, Mosley, TH, Jr, and Deary, I J

Published
2015
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10. ATP5H/KCTD2 locus is associated with Alzheimerʼs disease risk

Author

Boada, M, Antúnez, C, Ramírez-Lorca, R, DeStefano, A L, González-Pérez, A, Gayán, J, López-Arrieta, J, Ikram, M A, Hernández, I, Marín, J, Galán, J J, Bis, J C, Mauleón, A, Rosende-Roca, M, Moreno-Rey, C, Gudnasson, V, Morón, F J, Velasco, J, Carrasco, J M, Alegret, M, Espinosa, A, Vinyes, G, Lafuente, A, Vargas, L, Fitzpatrick, A L, Launer, L J, Sáez, M E, Vázquez, E, Becker, J T, López, O L, Serrano-Ríos, M, Tárraga, L, van Duijn, C M, Real, L M, Seshadri, S, and Ruiz, A

Published
2014
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11. Meta-analysis of epigenome-wide association studies of cognitive abilities

Author

Marioni, RE, McRae, AF, Bressler, J, Colicino, E, Hannon, E, Li, S, Prada, D, Smith, JA, Trevisi, L, Tsai, P-C, Vojinovic, D, Simino, J, Levy, D, Liu, C, Mendelson, M, Satizabal, CL, Yang, Q, Jhun, MA, Kardia, SLR, Zhao, W, Bandinelli, S, Ferrucci, L, Hernandez, DG, Singleton, AB, Harris, SE, Starr, JM, Kiel, DP, McLean, RR, Just, AC, Schwartz, J, Spiro, A, Vokonas, P, Amin, N, Ikram, MA, Uitterlinden, AG, Van Meurs, JBJ, Spector, TD, Steves, C, Baccarelli, AA, Bell, JT, Van Duijn, CM, Fornage, M, Hsu, Y-H, Mill, J, Mosley, TH, Seshadri, S, Deary, IJ, Epidemiology, Gastroenterology & Hepatology, Neurology, Radiology & Nuclear Medicine, and Internal Medicine

Subjects
Adult, Aged, 80 and over, Male, Genomics, DNA Methylation, Middle Aged, Epigenesis, Genetic, Cohort Studies, Cognition, Humans, CpG Islands, Female, Immediate Communication, Aged, Genome-Wide Association Study
Abstract

Cognitive functions are important correlates of health outcomes across the life-course. Individual differences in cognitive functions are partly heritable. Epigenetic modifications, such as DNA methylation, are susceptible to both genetic and environmental factors and may provide insights into individual differences in cognitive functions. Epigenome-wide meta-analyses for blood-based DNA methylation levels at ~420,000 CpG sites were performed for seven measures of cognitive functioning using data from 11 cohorts. CpGs that passed a Bonferroni correction, adjusting for the number of CpGs and cognitive tests, were assessed for: longitudinal change; being under genetic control (methylation QTLs); and associations with brain health (structural MRI), brain methylation and Alzheimer's disease pathology. Across the seven measures of cognitive functioning (meta-analysis n range: 2557-6809), there were epigenome-wide significant (P

Published
2018
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12. Correction: Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation (Molecular Psychiatry, (2018), 10.1038/s41380-018-0112-7)

Author

Bis, J.C. (Joshua), Jian, X. (Xueqiu), Kunkle, B.W. (Brian W.), Chen, Y. (Yuning), Hamilton-Nelson, K.L. (Kara L.), Bush, W.S. (William S.), Salerno, W.J. (William J.), Lancour, D. (Daniel), Ma, Y. (Yiyi), Renton, A. (Alan), Marcora, E. (Edoardo), Farrell, J.J. (John J.), Zhao, Y. (Yi), Qu, L. (Liming), Ahmad, S. (Shahzad), Amin, N. (Najaf), Amouyel, P. (Philippe), Beecham, G.W., Below, J.E. (Jennifer E.), Campion, D. (Dominique), Cantwell, L.B. (Laura B.), Charbonnier, C. (Camille), Chung, J. (Jaeyoon), Crane, P.K. (Paul K.), Crane, L.M.A., Cupples, L.A. (L. Adrienne), Dartigues, J.-F., Debette, S. (Stéphanie), Deleuze, J.-F. (Jean-François), Fulton, L. (Lucinda), Gabriel, S.B. (Stacey), Genin, E. (Emmanuelle), Gibbs, R.A. (Richard), Goate, A. (Alison), Grenier-Boley, B. (Benjamin), Gupta, N. (Namrata), Haines, J.L. (Jonathan), Havulinna, A.S. (Aki), Helisalmi, S. (Seppo), Hiltunen, M. (Mikko), Howrigan, D.P. (Daniel P.), Ikram, M.A. (Arfan), Kaprio, J. (Jaakko), Konrad, J. (Jan), Kuzma, A. (Amanda), Lander, E.S. (Eric), Lathrop, M. (Mark), Lehtimäki, T. (Terho), Lin, H. (Honghuang), Mattila, K. (Kari), Mayeux, R. (Richard), Muzny, D. (Donna), Nasser, W. (Waleed), Neale, B.M. (Benjamin), Nho, K. (Kwangsik), Nicolas, G. (Gaël), Patel, D. (Devanshi), Kunkle, B. (Brian), Perola, M. (Markus), Psaty, B.M. (Bruce), Quenez, O. (Olivier), Rajabli, F. (Farid), Redon, R. (Richard), Reitz, C. (Christiane), Remes, A. (Anne), Salomaa, V. (Veikko), Sarnowski, C., Schmidt, H. (Helena), Schmidt, M. (Michael), Schmidt, R. (Reinhold), Soininen, H. (H.), Thornton, T.A. (Timothy A.), Tosto, G. (G.), Tzourio, C. (Christophe), Lee, S.J. (Sven) van der, Duijn, C.M. (Cornelia) van, Valladares, O. (Otto), Vardarajan, B.N. (Badri), Wang, L.S. (Li-San), Wang, W. (Weixin), Wijsman, E. (Ellen), Wilson, R.K. (Richard K.), Witten, D. (Daniela), Worley, K.C. (Kim C.), Zhang, X. (Xiaoling), Bellenguez, C. (Céline), Lambert, J.-C. (J.), Kurki, M.I. (Mitja I.), Palotie, A. (Aarno), Daly, M.J. (Mark), Boerwinkle, E.A. (Eric), Lunetta, K.L. (Kathryn), DeStefano, A.L. (Anita), Martin, E.R., Schellenberg, G.D. (Gerard), Seshadri, S. (Sudha), Naj, A.C. (Adam C.), Fornage, M. (Myriam), Farrer, L.A. (Lindsay), Bis, J.C. (Joshua), Jian, X. (Xueqiu), Kunkle, B.W. (Brian W.), Chen, Y. (Yuning), Hamilton-Nelson, K.L. (Kara L.), Bush, W.S. (William S.), Salerno, W.J. (William J.), Lancour, D. (Daniel), Ma, Y. (Yiyi), Renton, A. (Alan), Marcora, E. (Edoardo), Farrell, J.J. (John J.), Zhao, Y. (Yi), Qu, L. (Liming), Ahmad, S. (Shahzad), Amin, N. (Najaf), Amouyel, P. (Philippe), Beecham, G.W., Below, J.E. (Jennifer E.), Campion, D. (Dominique), Cantwell, L.B. (Laura B.), Charbonnier, C. (Camille), Chung, J. (Jaeyoon), Crane, P.K. (Paul K.), Crane, L.M.A., Cupples, L.A. (L. Adrienne), Dartigues, J.-F., Debette, S. (Stéphanie), Deleuze, J.-F. (Jean-François), Fulton, L. (Lucinda), Gabriel, S.B. (Stacey), Genin, E. (Emmanuelle), Gibbs, R.A. (Richard), Goate, A. (Alison), Grenier-Boley, B. (Benjamin), Gupta, N. (Namrata), Haines, J.L. (Jonathan), Havulinna, A.S. (Aki), Helisalmi, S. (Seppo), Hiltunen, M. (Mikko), Howrigan, D.P. (Daniel P.), Ikram, M.A. (Arfan), Kaprio, J. (Jaakko), Konrad, J. (Jan), Kuzma, A. (Amanda), Lander, E.S. (Eric), Lathrop, M. (Mark), Lehtimäki, T. (Terho), Lin, H. (Honghuang), Mattila, K. (Kari), Mayeux, R. (Richard), Muzny, D. (Donna), Nasser, W. (Waleed), Neale, B.M. (Benjamin), Nho, K. (Kwangsik), Nicolas, G. (Gaël), Patel, D. (Devanshi), Kunkle, B. (Brian), Perola, M. (Markus), Psaty, B.M. (Bruce), Quenez, O. (Olivier), Rajabli, F. (Farid), Redon, R. (Richard), Reitz, C. (Christiane), Remes, A. (Anne), Salomaa, V. (Veikko), Sarnowski, C., Schmidt, H. (Helena), Schmidt, M. (Michael), Schmidt, R. (Reinhold), Soininen, H. (H.), Thornton, T.A. (Timothy A.), Tosto, G. (G.), Tzourio, C. (Christophe), Lee, S.J. (Sven) van der, Duijn, C.M. (Cornelia) van, Valladares, O. (Otto), Vardarajan, B.N. (Badri), Wang, L.S. (Li-San), Wang, W. (Weixin), Wijsman, E. (Ellen), Wilson, R.K. (Richard K.), Witten, D. (Daniela), Worley, K.C. (Kim C.), Zhang, X. (Xiaoling), Bellenguez, C. (Céline), Lambert, J.-C. (J.), Kurki, M.I. (Mitja I.), Palotie, A. (Aarno), Daly, M.J. (Mark), Boerwinkle, E.A. (Eric), Lunetta, K.L. (Kathryn), DeStefano, A.L. (Anita), Martin, E.R., Schellenberg, G.D. (Gerard), Seshadri, S. (Sudha), Naj, A.C. (Adam C.), Fornage, M. (Myriam), and Farrer, L.A. (Lindsay)

Abstract

Following publication, the authors noticed that ‘Laura Cantwell’, ‘Otto Valladares’, and ‘Li-San Wang’ were inadvertently omitted from the author list. These authors have now been added to the author list in 21st, 77th, and 79th position, respectively. This has been corrected in both the PDF and HTML versions of the article.

Published
2019
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13. Erratum: Allelic differences between Europeans and Chinese for CREB1 SNPs and their implications in gene expression regulation, hippocampal structure and function, and bipolar disorder susceptibility

Author

Li, M, Luo, X-j, Rietschel, M, Lewis, C M, Mattheisen, M, Müller-Myhsok, B, Jamain, S, Leboyer, M, Landén, M, Thompson, P M, Cichon, S, Nöthen, M M, Schulze, T G, Sullivan, P F, Bergen, S E, Donohoe, G, Morris, D W, Hargreaves, A, Gill, M, Corvin, A, Hultman, C, Toga, A W, Shi, L, Lin, Q, Shi, H, Gan, L, Meyer-Lindenberg, A, Czamara, D, Henry, C, Etain, B, Bis, J C, Ikram, M A, Fornage, M, Debette, S, Launer, L J, Seshadri, S, Erk, S, Walter, H, Heinz, A, Bellivier, F, Stein, J L, Medland, S E, Vasquez, A A, Hibar, D P, Franke, B, Martin, N G, and Wright, M J

Published
2014
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14. Whole exome sequencing study identifies novel rare and common Alzheimer’s-Associated variants involved in immune response and transcriptional regulation

Author

Bis, J.C. (Joshua), Jian, X. (Xueqiu), Kunkle, B.W. (Brian W.), Chen, Y. (Yuning), Hamilton-Nelson, K.L. (Kara L.), Bush, W.S. (William S.), Salerno, W.J. (William J.), Lancour, D. (Daniel), Ma, Y. (Yiyi), Renton, A. (Alan), Marcora, E. (Edoardo), Farrell, J.J. (John J.), Zhao, Y. (Yi), Qu, L. (Liming), Ahmad, S. (Shahzad), Amin, N. (Najaf), Amouyel, P. (Philippe), Beecham, G.W., Below, J.E. (Jennifer E.), Campion, D. (Dominique), Charbonnier, C. (Camille), Chung, J. (Jaeyoon), Crane, L.M.A., Cruchaga, C. (Carlos), Cupples, L.A. (L. Adrienne), Dartigues, J.-F., Debette, S. (Stéphanie), Deleuze, J.-F. (Jean-François), Fulton, L. (Lucinda), Gabriel, S.B. (Stacey), Genin, E. (Emmanuelle), Gibbs, R.A. (Richard A.), Goate, A.M. (Alison), Grenier-Boley, B. (Benjamin), Gupta, N. (Namrata), Haines, J.L. (Jonathan), Havulinna, A.S. (Aki), Helisalmi, S. (Seppo), Hiltunen, M. (Mikko), Howrigan, D.P. (Daniel P.), Ikram, M.A. (Arfan), Kaprio, J. (Jaakko), Konrad, J. (Jan), Kuzma, A. (Amanda), Lander, E.S. (Eric), Lathrop, M. (Mark), Lehtimäki, T. (Terho), Lin, H. (Honghuang), Mattila, K. (Kari), Mayeux, R. (Richard), Muzny, D. (Donna), Nasser, W. (Waleed), Neale, B.M. (Benjamin), Nho, K. (Kwangsik), Nicolas, G. (Gaël), Patel, D. (Devanshi), Pericak-Vance, M.A. (Margaret), Perola, M. (Markus), Psaty, B.M. (Bruce M.), Quenez, O. (Olivier), Rajabli, F. (Farid), Redon, R. (Richard), Reitz, C. (Christiane), Remes, A. (Anne), Salomaa, V. (Veikko), Sarnowski, C., Schmidt, H. (Helena), Schmidt, M. (Michael), Schmidt, R. (Reinhold), Soininen, H. (H.), Thornton, T.A. (Timothy A.), Tosto, G. (G.), Tzourio, C. (Christophe), Lee, S.J. (Sven) van der, Duijn, C.M. (Cornelia) van, Vardarajan, B.N. (Badri), Wang, W. (Weixin), Wijsman, E.M. (Ellen), Wilson, R.K. (Richard K.), Witten, D. (Daniela), Worley, K.C. (Kim C.), Zhang, X. (Xiaoling), Bellenguez, C. (Céline), Lambert, J.-C. (J.), Kurki, M.I. (Mitja I.), Palotie, A. (Aarno), Daly, M. (Mark), Boerwinkle, E. (Eric), Lunetta, K.L. (Kathryn), DeStefano, A.L. (Anita), Dupuis, J. (Josée), Martin, E.R. (Eden R.), Schellenberg, G.D. (Gerard), Seshadri, S. (Sudha), Naj, A.C. (Adam C.), Fornage, M. (Myriam), Farrer, L.A. (Lindsay), Bis, J.C. (Joshua), Jian, X. (Xueqiu), Kunkle, B.W. (Brian W.), Chen, Y. (Yuning), Hamilton-Nelson, K.L. (Kara L.), Bush, W.S. (William S.), Salerno, W.J. (William J.), Lancour, D. (Daniel), Ma, Y. (Yiyi), Renton, A. (Alan), Marcora, E. (Edoardo), Farrell, J.J. (John J.), Zhao, Y. (Yi), Qu, L. (Liming), Ahmad, S. (Shahzad), Amin, N. (Najaf), Amouyel, P. (Philippe), Beecham, G.W., Below, J.E. (Jennifer E.), Campion, D. (Dominique), Charbonnier, C. (Camille), Chung, J. (Jaeyoon), Crane, L.M.A., Cruchaga, C. (Carlos), Cupples, L.A. (L. Adrienne), Dartigues, J.-F., Debette, S. (Stéphanie), Deleuze, J.-F. (Jean-François), Fulton, L. (Lucinda), Gabriel, S.B. (Stacey), Genin, E. (Emmanuelle), Gibbs, R.A. (Richard A.), Goate, A.M. (Alison), Grenier-Boley, B. (Benjamin), Gupta, N. (Namrata), Haines, J.L. (Jonathan), Havulinna, A.S. (Aki), Helisalmi, S. (Seppo), Hiltunen, M. (Mikko), Howrigan, D.P. (Daniel P.), Ikram, M.A. (Arfan), Kaprio, J. (Jaakko), Konrad, J. (Jan), Kuzma, A. (Amanda), Lander, E.S. (Eric), Lathrop, M. (Mark), Lehtimäki, T. (Terho), Lin, H. (Honghuang), Mattila, K. (Kari), Mayeux, R. (Richard), Muzny, D. (Donna), Nasser, W. (Waleed), Neale, B.M. (Benjamin), Nho, K. (Kwangsik), Nicolas, G. (Gaël), Patel, D. (Devanshi), Pericak-Vance, M.A. (Margaret), Perola, M. (Markus), Psaty, B.M. (Bruce M.), Quenez, O. (Olivier), Rajabli, F. (Farid), Redon, R. (Richard), Reitz, C. (Christiane), Remes, A. (Anne), Salomaa, V. (Veikko), Sarnowski, C., Schmidt, H. (Helena), Schmidt, M. (Michael), Schmidt, R. (Reinhold), Soininen, H. (H.), Thornton, T.A. (Timothy A.), Tosto, G. (G.), Tzourio, C. (Christophe), Lee, S.J. (Sven) van der, Duijn, C.M. (Cornelia) van, Vardarajan, B.N. (Badri), Wang, W. (Weixin), Wijsman, E.M. (Ellen), Wilson, R.K. (Richard K.), Witten, D. (Daniela), Worley, K.C. (Kim C.), Zhang, X. (Xiaoling), Bellenguez, C. (Céline), Lambert, J.-C. (J.), Kurki, M.I. (Mitja I.), Palotie, A. (Aarno), Daly, M. (Mark), Boerwinkle, E. (Eric), Lunetta, K.L. (Kathryn), DeStefano, A.L. (Anita), Dupuis, J. (Josée), Martin, E.R. (Eden R.), Schellenberg, G.D. (Gerard), Seshadri, S. (Sudha), Naj, A.C. (Adam C.), Fornage, M. (Myriam), and Farrer, L.A. (Lindsay)

Abstract

The Alzheimer’s Disease Sequencing Project (ADSP) undertook whole exome sequencing in 5,740 late-onset Alzheimer disease (AD) cases and 5,096 cognitively normal controls primarily of European ancestry (EA), among whom 218 cases and 177 controls were Caribbean Hispanic (CH). An age-, sex- and APOE based risk score and family history were used to select cases most likely to harbor novel AD risk variants and controls least likely to develop AD by age 85 years. We tested ~1.5 million single nucleotide variants (SNVs) and 50,000 insertion-deletion polymorphisms (indels) for association to AD, using multiple models considering individual variants as well as gene-based tests aggregating rare, predicted functional, and loss of function variants. Sixteen single variants and 19 genes that met criteria for significant or suggestive associations after multiple-testing correction were evaluated for replication in four independent samples; three with whole exome sequencing (2,778 cases, 7,262 contro

Published
2018
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15. DISC1 regulates trafficking and processing of APP and Aβ generation

Author

Shahani, N, primary, Seshadri, S, additional, Jaaro-Peled, H, additional, Ishizuka, K, additional, Hirota-Tsuyada, Y, additional, Wang, Q, additional, Koga, M, additional, Sedlak, T W, additional, Korth, C, additional, Brandon, N J, additional, Kamiya, A, additional, Subramaniam, S, additional, Tomoda, T, additional, and Sawa, A, additional

Published
2014
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17. The psychiatric disease risk factors DISC1 and TNIK interact to regulate synapse composition and function

Author

Wang, Q, primary, Charych, E I, additional, Pulito, V L, additional, Lee, J B, additional, Graziane, N M, additional, Crozier, R A, additional, Revilla-Sanchez, R, additional, Kelly, M P, additional, Dunlop, A J, additional, Murdoch, H, additional, Taylor, N, additional, Xie, Y, additional, Pausch, M, additional, Hayashi-Takagi, A, additional, Ishizuka, K, additional, Seshadri, S, additional, Bates, B, additional, Kariya, K, additional, Sawa, A, additional, Weinberg, R J, additional, Moss, S J, additional, Houslay, M D, additional, Yan, Z, additional, and Brandon, N J, additional

Published
2010
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18. X-chromosome-wide association study for Alzheimer's disease.

Author

Le Borgne J, Gomez L, Heikkinen S, Amin N, Ahmad S, Choi SH, Bis J, Grenier-Boley B, Rodriguez OG, Kleineidam L, Young J, Tripathi KP, Wang L, Varma A, Campos-Martin R, van der Lee S, Damotte V, de Rojas I, Palmal S, Lipton R, Reiman E, McKee A, De Jager P, Bush W, Small S, Levey A, Saykin A, Foroud T, Albert M, Hyman B, Petersen R, Younkin S, Sano M, Wisniewski T, Vassar R, Schneider J, Henderson V, Roberson E, DeCarli C, LaFerla F, Brewer J, Swerdlow R, Van Eldik L, Hamilton-Nelson K, Paulson H, Naj A, Lopez O, Chui H, Crane P, Grabowski T, Kukull W, Asthana S, Craft S, Strittmatter S, Cruchaga C, Leverenz J, Goate A, Kamboh MI, George-Hyslop PS, Valladares O, Kuzma A, Cantwell L, Riemenschneider M, Morris J, Slifer S, Dalmasso C, Castillo A, Küçükali F, Peters O, Schneider A, Dichgans M, Rujescu D, Scherbaum N, Deckert J, Riedel-Heller S, Hausner L, Molina-Porcel L, Düzel E, Grimmer T, Wiltfang J, Heilmann-Heimbach S, Moebus S, Tegos T, Scarmeas N, Dols-Icardo O, Moreno F, Pérez-Tur J, Bullido MJ, Pastor P, Sánchez-Valle R, Álvarez V, Boada M, García-González P, Puerta R, Mir P, Real LM, Piñol-Ripoll G, García-Alberca JM, Royo JL, Rodriguez-Rodriguez E, Soininen H, de Mendonça A, Mehrabian S, Traykov L, Hort J, Vyhnalek M, Thomassen JQ, Pijnenburg YAL, Holstege H, van Swieten J, Ramakers I, Verhey F, Scheltens P, Graff C, Papenberg G, Giedraitis V, Boland A, Deleuze JF, Nicolas G, Dufouil C, Pasquier F, Hanon O, Debette S, Grünblatt E, Popp J, Ghidoni R, Galimberti D, Arosio B, Mecocci P, Solfrizzi V, Parnetti L, Squassina A, Tremolizzo L, Borroni B, Nacmias B, Spallazzi M, Seripa D, Rainero I, Daniele A, Bossù P, Masullo C, Rossi G, Jessen F, Fernandez V, Kehoe PG, Frikke-Schmidt R, Tsolaki M, Sánchez-Juan P, Sleegers K, Ingelsson M, Haines J, Farrer L, Mayeux R, Wang LS, Sims R, DeStefano A, Schellenberg GD, Seshadri S, Amouyel P, Williams J, van der Flier W, Ramirez A, Pericak-Vance M, Andreassen OA, Van Duijn C, Hiltunen M, Ruiz A, Dupuis J, Martin E, Lambert JC, Kunkle B, and Bellenguez C

Abstract

Due to methodological reasons, the X-chromosome has not been featured in the major genome-wide association studies on Alzheimer's Disease (AD). To address this and better characterize the genetic landscape of AD, we performed an in-depth X-Chromosome-Wide Association Study (XWAS) in 115,841 AD cases or AD proxy cases, including 52,214 clinically-diagnosed AD cases, and 613,671 controls. We considered three approaches to account for the different X-chromosome inactivation (XCI) states in females, i.e. random XCI, skewed XCI, and escape XCI. We did not detect any genome-wide significant signals (P ≤ 5 × 10 - 8 ) but identified seven X-chromosome-wide significant loci (P ≤ 1.6 × 10 - 6 ). The index variants were common for the Xp22.32, FRMPD4, DMD and Xq25 loci, and rare for the WNK3, PJA1, and DACH2 loci. Overall, this well-powered XWAS found no genetic risk factors for AD on the non-pseudoautosomal region of the X-chromosome, but it identified suggestive signals warranting further investigations., Competing Interests: Competing interests: The authors declare no competing interests. Ethics approval and consent to participate: Written informed consent was obtained from study participants or, for those with substantial cognitive impairment, a caregiver, legal guardian or other proxy. Study protocols for all cohorts were reviewed and approved by the appropriate institutional review boards., (© 2024. The Author(s).)

Published
2024
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19. Genome-wide meta-analyses reveal novel loci for verbal short-term memory and learning.

Author

Lahti J, Tuominen S, Yang Q, Pergola G, Ahmad S, Amin N, Armstrong NJ, Beiser A, Bey K, Bis JC, Boerwinkle E, Bressler J, Campbell A, Campbell H, Chen Q, Corley J, Cox SR, Davies G, De Jager PL, Derks EM, Faul JD, Fitzpatrick AL, Fohner AE, Ford I, Fornage M, Gerring Z, Grabe HJ, Grodstein F, Gudnason V, Simonsick E, Holliday EG, Joshi PK, Kajantie E, Kaprio J, Karell P, Kleineidam L, Knol MJ, Kochan NA, Kwok JB, Leber M, Lam M, Lee T, Li S, Loukola A, Luck T, Marioni RE, Mather KA, Medland S, Mirza SS, Nalls MA, Nho K, O'Donnell A, Oldmeadow C, Painter J, Pattie A, Reppermund S, Risacher SL, Rose RJ, Sadashivaiah V, Scholz M, Satizabal CL, Schofield PW, Schraut KE, Scott RJ, Simino J, Smith AV, Smith JA, Stott DJ, Surakka I, Teumer A, Thalamuthu A, Trompet S, Turner ST, van der Lee SJ, Villringer A, Völker U, Wilson RS, Wittfeld K, Vuoksimaa E, Xia R, Yaffe K, Yu L, Zare H, Zhao W, Ames D, Attia J, Bennett DA, Brodaty H, Chasman DI, Goldman AL, Hayward C, Ikram MA, Jukema JW, Kardia SLR, Lencz T, Loeffler M, Mattay VS, Palotie A, Psaty BM, Ramirez A, Ridker PM, Riedel-Heller SG, Sachdev PS, Saykin AJ, Scherer M, Schofield PR, Sidney S, Starr JM, Trollor J, Ulrich W, Wagner M, Weir DR, Wilson JF, Wright MJ, Weinberger DR, Debette S, Eriksson JG, Mosley TH Jr, Launer LJ, van Duijn CM, Deary IJ, Seshadri S, and Räikkönen K

Subjects
Verbal Learning, Multifactorial Inheritance, Brain, Memory, Short-Term physiology, Learning
Abstract

Understanding the genomic basis of memory processes may help in combating neurodegenerative disorders. Hence, we examined the associations of common genetic variants with verbal short-term memory and verbal learning in adults without dementia or stroke (N = 53,637). We identified novel loci in the intronic region of CDH18, and at 13q21 and 3p21.1, as well as an expected signal in the APOE/APOC1/TOMM40 region. These results replicated in an independent sample. Functional and bioinformatic analyses supported many of these loci and further implicated POC1. We showed that polygenic score for verbal learning associated with brain activation in right parieto-occipital region during working memory task. Finally, we showed genetic correlations of these memory traits with several neurocognitive and health outcomes. Our findings suggest a role of several genomic loci in verbal memory processes., (© 2022. The Author(s).)

Published
2022
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20. Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.

Author

Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE, Marcora E, Farrell JJ, Zhao Y, Qu L, Ahmad S, Amin N, Amouyel P, Beecham GW, Below JE, Campion D, Cantwell L, Charbonnier C, Chung J, Crane PK, Cruchaga C, Cupples LA, Dartigues JF, Debette S, Deleuze JF, Fulton L, Gabriel SB, Genin E, Gibbs RA, Goate A, Grenier-Boley B, Gupta N, Haines JL, Havulinna AS, Helisalmi S, Hiltunen M, Howrigan DP, Ikram MA, Kaprio J, Konrad J, Kuzma A, Lander ES, Lathrop M, Lehtimäki T, Lin H, Mattila K, Mayeux R, Muzny DM, Nasser W, Neale B, Nho K, Nicolas G, Patel D, Pericak-Vance MA, Perola M, Psaty BM, Quenez O, Rajabli F, Redon R, Reitz C, Remes AM, Salomaa V, Sarnowski C, Schmidt H, Schmidt M, Schmidt R, Soininen H, Thornton TA, Tosto G, Tzourio C, van der Lee SJ, van Duijn CM, Valladares O, Vardarajan B, Wang LS, Wang W, Wijsman E, Wilson RK, Witten D, Worley KC, Zhang X, Bellenguez C, Lambert JC, Kurki MI, Palotie A, Daly M, Boerwinkle E, Lunetta KL, Destefano AL, Dupuis J, Martin ER, Schellenberg GD, Seshadri S, Naj AC, Fornage M, and Farrer LA

Abstract

A correction to this paper has been published and can be accessed via a link at the top of the paper.

Published
2020
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21. Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.

Author

Bis JC, Jian X, Kunkle BW, Chen Y, Hamilton-Nelson KL, Bush WS, Salerno WJ, Lancour D, Ma Y, Renton AE, Marcora E, Farrell JJ, Zhao Y, Qu L, Ahmad S, Amin N, Amouyel P, Beecham GW, Below JE, Campion D, Cantwell L, Charbonnier C, Chung J, Crane PK, Cruchaga C, Cupples LA, Dartigues JF, Debette S, Deleuze JF, Fulton L, Gabriel SB, Genin E, Gibbs RA, Goate A, Grenier-Boley B, Gupta N, Haines JL, Havulinna AS, Helisalmi S, Hiltunen M, Howrigan DP, Ikram MA, Kaprio J, Konrad J, Kuzma A, Lander ES, Lathrop M, Lehtimäki T, Lin H, Mattila K, Mayeux R, Muzny DM, Nasser W, Neale B, Nho K, Nicolas G, Patel D, Pericak-Vance MA, Perola M, Psaty BM, Quenez O, Rajabli F, Redon R, Reitz C, Remes AM, Salomaa V, Sarnowski C, Schmidt H, Schmidt M, Schmidt R, Soininen H, Thornton TA, Tosto G, Tzourio C, van der Lee SJ, van Duijn CM, Valladares O, Vardarajan B, Wang LS, Wang W, Wijsman E, Wilson RK, Witten D, Worley KC, Zhang X, Bellenguez C, Lambert JC, Kurki MI, Palotie A, Daly M, Boerwinkle E, Lunetta KL, Destefano AL, Dupuis J, Martin ER, Schellenberg GD, Seshadri S, Naj AC, Fornage M, and Farrer LA

Subjects
Aged, Aged, 80 and over, Alzheimer Disease pathology, Amyloid beta-Peptides immunology, Apolipoproteins E genetics, Female, Haplotypes genetics, Humans, Immunoglobulin G, Kruppel-Like Transcription Factors genetics, Male, Polymorphism, Genetic genetics, RNA, Long Noncoding genetics, Alzheimer Disease genetics, Alzheimer Disease immunology, Gene Expression Regulation genetics, Immunity genetics, Transcription, Genetic genetics, Exome Sequencing
Abstract

The Alzheimer's Disease Sequencing Project (ADSP) undertook whole exome sequencing in 5,740 late-onset Alzheimer disease (AD) cases and 5,096 cognitively normal controls primarily of European ancestry (EA), among whom 218 cases and 177 controls were Caribbean Hispanic (CH). An age-, sex- and APOE based risk score and family history were used to select cases most likely to harbor novel AD risk variants and controls least likely to develop AD by age 85 years. We tested ~1.5 million single nucleotide variants (SNVs) and 50,000 insertion-deletion polymorphisms (indels) for association to AD, using multiple models considering individual variants as well as gene-based tests aggregating rare, predicted functional, and loss of function variants. Sixteen single variants and 19 genes that met criteria for significant or suggestive associations after multiple-testing correction were evaluated for replication in four independent samples; three with whole exome sequencing (2,778 cases, 7,262 controls) and one with genome-wide genotyping imputed to the Haplotype Reference Consortium panel (9,343 cases, 11,527 controls). The top findings in the discovery sample were also followed-up in the ADSP whole-genome sequenced family-based dataset (197 members of 42 EA families and 501 members of 157 CH families). We identified novel and predicted functional genetic variants in genes previously associated with AD. We also detected associations in three novel genes: IGHG3 (p = 9.8 × 10 -7 ), an immunoglobulin gene whose antibodies interact with β-amyloid, a long non-coding RNA AC099552.4 (p = 1.2 × 10 -7 ), and a zinc-finger protein ZNF655 (gene-based p = 5.0 × 10 -6 ). The latter two suggest an important role for transcriptional regulation in AD pathogenesis.

Published
2020
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