Genetic modification of the relationship between phosphorylated tau and neurodegeneration

Alzheimer's and Dementia

Volumn 10, Issue 6, 2014, Pages 637-645.e1

  Hohman, Timothy J ^a   Koran, Mary Ellen I ^a   Thornton Wells, Tricia A ^a  

^a VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

Alzheimer's disease; CSF; Genetic interactions; Imaging genetics; Memory; GWAS; MRI; Phosphorylated tau; Plasma; Quantitative traits; Ventricular volume

Indexed keywords

INTERLEUKIN 6 RECEPTOR; PHOSPHOPROTEIN; TAU PROTEIN; APOLIPOPROTEIN E; CYTOKINE;

AGED; ALZHEIMER DISEASE; ARTICLE; BRAIN SIZE; COGNITION; CONTROLLED STUDY; DNA MODIFICATION; FEMALE; GENE; GENE INTERACTION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MEMORY; MILD COGNITIVE IMPAIRMENT; NERVE DEGENERATION; POT1 GENE; PRIORITY JOURNAL; PROTEIN INTERACTION; PROTEIN PHOSPHORYLATION; SINGLE NUCLEOTIDE POLYMORPHISM; BRAIN; COGNITION DISORDERS; COMPLICATION; GENETICS; GENOTYPE; LATERAL BRAIN VENTRICLE; METABOLISM; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOLOGY; STATISTICAL MODEL; VERY ELDERLY;

AGED; AGED, 80 AND OVER; ALZHEIMER DISEASE; APOLIPOPROTEINS E; BRAIN; COGNITION DISORDERS; CYTOKINES; FEMALE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; LATERAL VENTRICLES; LINEAR MODELS; MAGNETIC RESONANCE IMAGING; MALE; NERVE DEGENERATION; POLYMORPHISM, SINGLE NUCLEOTIDE; TAU PROTEINS;

EID: 84927176584     PISSN: 15525260     EISSN: 15525279     Source Type: Journal    
DOI: 10.1016/j.jalz.2013.12.022     Document Type: Article

References (49)

1. H. Braak, and K. Del Tredici The pathological process underlying Alzheimer's disease in individuals under thirty Acta Neuropathol 121 2011 171 181
2. C.R. Jack Jr., D.S. Knopman, W.J. Jagust, L.M. Shaw, P.S. Aisen, and M.W. Weiner Hypothetical model of dynamic biomarkers of the Alzheimer's pathological cascade Lancet Neurol 9 2010 119
3. C.R. Jack Jr., D.S. Knopman, W.J. Jagust, R.C. Petersen, M.W. Weiner, and P.S. Aisen Tracking pathophysiological processes in Alzheimer's disease: an updated hypothetical model of dynamic biomarkers Lancet Neurol 12 2013 207 216
4. H. Braak, and E. Braak Frequency of stages of Alzheimer-related lesions in different age categories Neurobiol Aging 18 1997 351 357
5. I. Driscoll, and J. Troncoso Asymptomatic Alzheimers disease: a prodrome or a state of resilience? Curr Alzheimer Res 8 2011 330 335
6. D. Iacono, R. O'Brien, S.M. Resnick, A.B. Zonderman, O. Pletnikova, and G Rudow Neuronal hypertrophy in asymptomatic Alzheimer disease J Neuropathol Exp Neurol 67 2008 578
7. K.T. Codispoti, L.L. Beason-Held, M.A. Kraut, R.J. O'Brien, G. Rudow, and O. Pletnikova Longitudinal brain activity changes in asymptomatic Alzheimer disease Brain Behav 2 2012 221 230
8. E.J. Lampert, K. Roy Choudhury, C.A. Hostage, J.R. Petrella, PM Doraiswamy the Alzheimer's Disease Neuroimaging Initiative Prevalence of Alzheimer's pathologic endophenotypes in asymptomatic and mildly impaired first-degree relatives PloS One 8 2013 e60747
9. A.M. Fagan, M.A. Mintun, R.H. Mach, S.Y. Lee, C.S. Dence, and A.R. Shah Inverse relation between in vivo amyloid imaging load and cerebrospinal fluid Abeta42 in humans Ann Neurol 59 2006 512 519
10. A. Forsberg, H. Engler, O. Almkvist, G. Blomquist, G. Hagman, and A. Wall PET imaging of amyloid deposition in patients with mild cognitive impairment Neurobiol Aging 29 2008 1456 1465
11. W.J. Jagust, S.M. Landau, L.M. Shaw, J.Q. Trojanowski, R.A. Koeppe, and E.M. Reiman Relationships between biomarkers in aging and dementia Neurology 73 2009 1193 1199
12. D. Harold, R. Abraham, P. Hollingworth, R. Sims, A. Gerrish, and M.L. Hamshere Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease Nat Genet 41 2009 1088 1093
13. P. Hollingworth, D. Harold, R. Sims, A. Gerrish, J.C. Lambert, and M.M. Carrasquillo Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease Nat Genet 43 2011 429 435
14. C. Cruchaga, J.S. Kauwe, K. Mayo, N. Spiegel, S. Bertelsen, and P. Nowotny SNPs associated with cerebrospinal fluid phospho-tau levels influence rate of decline in Alzheimer's disease PLoS Genet 6 2010 e1001101
15. C. Cruchaga, J. Kauwe, O. Harari, S.C. Jin, Y. Cai, and C.M. Karch GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimers disease Neuron 78 2013 256 268 4-24
16. J.S.K. Kauwe, J. Wang, K. Mayo, J.C. Morris, A.M. Fagan, and D.M. Holtzman Alzheimer's disease risk variants show association with cerebrospinal fluid amyloid beta Neurogenetics 10 2009 13 17
17. J.S.K. Kauwe, C. Cruchaga, C.M. Karch, B. Sadler, M. Lee, and K. Mayo Fine mapping of genetic variants in BIN1, CLU, CR1 and PICALM for association with cerebrospinal fluid biomarkers for Alzheimer's disease PloS One 6 2011 e15918
18. S. Kim, S. Swaminathan, L. Shen, S.L. Risacher, K. Nho, and T. Foroud Genome-wide association study of CSF biomarkers Abeta-42, t-tau, and p-tau181p in the ADNI cohort Neurology 76 2011 69 79
19. P.M. Thompson, K.M. Hayashi, G.I. de Zubicaray, A.L. Janke, S.E. Rose, and J. Semple Mapping hippocampal and ventricular change in Alzheimer disease Neuroimage 22 2004 1754 1766
20. C.R. Jack, M.M. Shiung, J.L. Gunter, P.C. O'Brien, S.D. Weigand, and D.S. Knopman Comparison of different MRI brain atrophy rate measures with clinical disease progression in AD Neurology 62 2004 591 600
21. M.I. Koran, T.J. Hohman, S.A. Meda, and T.A. Thornton-Wells Genetic interactions within inositol-related pathways are associated with longitudinal changes in ventricle size J Alzheimers Dis 38 2014 145 154
22. S. Purcell, B. Neale, K. Todd-Brown, L. Thomas, M.A.R. Ferreira, and D. Bender PLINK: a tool set for whole-genome association and population-based linkage analyses Am J Hum Genet 81 2007 559 575
23. C.R. Jack, M.A. Bernstein, N.C. Fox, P. Thompson, G. Alexander, and D. Harvey The Alzheimer's Disease Neuroimaging Initiative (ADNI): MRI methods J Magn Reson Imaging 27 2008 685 691
24. E.C. Mormino, J.T. Kluth, C.M. Madison, G.D. Rabinovici, S.L. Baker, and B.L. Miller Episodic memory loss is related to hippocampal-mediated beta-amyloid deposition in elderly subjects Brain 132 2009 1310 1323
25. K. Buerger, M. Ewers, T. Pirttilä, R. Zinkowski, I. Alafuzoff, and S.J. Teipel CSF phosphorylated tau protein correlates with neocortical neurofibrillary pathology in Alzheimer's disease Brain 129 2006 3035 3041
26. A.M. Dale, B. Fischl, and M.I. Sereno Cortical surface-based analysis: I. Segmentation and surface reconstruction Neuroimage 9 1999 179 194
27. R.S. Desikan, F. Segonne, B. Fischl, B.T. Quinn, B.C. Dickerson, and D. Blacker An automated labeling system for subdividing the human cerebral cortex on MRI scans into gyral based regions of interest Neuroimage 31 2006 968 980
28. B. Fischl, M.I. Sereno, and A.M. Dale Cortical surface-based analysis: II: inflation, flattening, and a surface-based coordinate system Neuroimage 9 1999 195 207
29. B. Fischl, M.I. Sereno, R.B. Tootell, and A.M. Dale High-resolution intersubject averaging and a coordinate system for the cortical surface Hum Brain Mapp 8 1999 272 284
30. M. Reuter, N.J. Schmansky, H.D. Rosas, and B. Fischl Within-subject template estimation for unbiased longitudinal image analysis Neuroimage 61 2012 1402 1418
31. L.M. Shaw, H. Vanderstichele, M. Knapik-Czajka, M. Figurski, E. Coart, and K. Blennow Qualification of the analytical and clinical performance of CSF biomarker analyses in ADNI Acta Neuropathol 121 2011 597 609
32. V.K. Ramanan, S.L. Risacher, K. Nho, S. Kim, S. Swaminathan, and L. Shen APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study Mol Psychiatry 2013 10.1038/mp.2013.19
33. J.K. Pritchard, M. Stephens, and P. Donnelly Inference of population structure using multilocus genotype data Genetics 155 2000 945 959
34. P.K. Crane, A. Carle, L.E. Gibbons, P. Insel, R.S. Mackin, and A. Gross Development and assessment of a composite score for memory in the Alzheimer's Disease Neuroimaging Initiative (ADNI) Brain Imaging Behav 6 2012 1 15
35. L.E. Gibbons, A.C. Carle, R.S. Mackin, D. Harvey, S. Mukherjee, and P. Insel A composite score for executive functioning, validated in Alzheimer's Disease Neuroimaging Initiative (ADNI) participants with baseline mild cognitive impairment Brain Imaging Behav 2012 1 11
36. N. Schuff, N. Woerner, L. Boreta, T. Kornfield, L.M. Shaw, and J.Q. Trojanowski MRI of hippocampal volume loss in early Alzheimer's disease in relation to ApoE genotype and biomarkers Brain 132 2009 1067 1077
37. L.C. de Souza, M. Chupin, F. Lamari, C. Jardel, D. Leclercq, and O. Colliot CSF tau markers are correlated with hippocampal volume in Alzheimer's disease Neurobiol Aging 33 2012 1253 1257
38. A.M. Fagan, D. Head, A.R. Shah, D. Marcus, M. Mintun, and J.C. Morris Decreased cerebrospinal fluid Abeta-42 correlates with brain atrophy in cognitively normal elderly Ann Neurol 65 2009 176 183
39. L.D. Ward, and M. Kellis HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants Nucleic Acids Res 40 2012 D930 D934
40. T. Kondo, N. Oue, K. Yoshida, Y. Mitani, K. Naka, and H. Nakayama Expression of POT1 is associated with tumor stage and telomere length in gastric carcinoma Cancer Res 64 2004 523 529
41. X. Ning, S. Yang, R. Wang, R. Zhang, L. Guo, and J. Tie POT1 deficiency alters telomere length and telomere-associated gene expression in human gastric cancer cells Eur J Cancer Prev 19 2010 345 351
42. L.A. Panossian, V.R. Porter, H.F. Valenzuela, X. Zhu, E. Reback, and D. Masterman Telomere shortening in T cells correlates with Alzheimer's disease status Neurobiol Aging 24 2003 77 84
43. A.L. Jefferson, J.M. Massaro, P.A. Wolf, S. Seshadri, R. Au, and R.S. Vasan Inflammatory biomarkers are associated with total brain volume: the Framingham Heart Study Neurology 68 2007 1032 1038
44. P.A. Calvert, T.V. Liew, I. Gorenne, M. Clarke, C. Costopoulos, and D.R. Obaid Leukocyte telomere length is associated with high-risk plaques on virtual histology intravascular ultrasound and increased proinflammatory activity Arterioscler Thromb Vasc Biol 31 2011 2157 2164
45. L. Ferrucci, A. Cherubini, S. Bandinelli, B. Bartali, A. Corsi, and F. Lauretani Relationship of plasma polyunsaturated fatty acids to circulating inflammatory markers J Clin Endocrinol Metab 91 2006 439 446
46. S.A. Jones, S. Horiuchi, N. Topley, N. Yamamoto, and G.M. Fuller The soluble interleukin 6 receptor: mechanisms of production and implications in disease FASEB J 15 2001 43 58
47. S.M. Nestor, R. Rupsingh, M. Borrie, M. Smith, V. Accomazzi, and J.L. Wells Ventricular enlargement as a possible measure of Alzheimer's disease progression validated using the Alzheimer's Disease Neuroimaging Initiative database Brain 131 2008 2443 2454
48. L. Shen, S. Kim, S.L. Risacher, K. Nho, S. Swaminathan, and J.D. West Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: a study of the ADNI cohort Neuroimage 53 2010 1051
49. S. Mukherjee, S. Kim, V.K. Ramanan, L. Gibbons, K. Nho, and M. Gymour Gene-based GWAS and biological pathway analysis of the resilience of executive functioning Brain Imaging Behav 8 2014 110 118