Polygenic risk of Alzheimer disease is associated with early- and late-life processes

Neurology

Volumn 87, Issue 5, 2016, Pages 481-488

  Mormino, Elizabeth C ^a   Sperling, Reisa A ^a   Holmes, Avram J ^a,d   Buckner, Randy L ^a,e   De Jager, Philip L ^b,c,f   Smoller, Jordan W ^a,f,g   Sabuncu, Mert R ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b Program in Translational NeuroPsychiatric Genomics   (United States)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

^d YALE UNIVERSITY   (United States)

^e HARVARD UNIVERSITY   (United States)

^f BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^g MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID BETA PROTEIN; ANILINE DERIVATIVE; BIOLOGICAL MARKER; ETHYLENE GLYCOL DERIVATIVE; FLORBETAPIR;

AGED; ALZHEIMER DISEASE; ARTICLE; BRAIN SIZE; COGNITIVE DEFECT; DISEASE COURSE; EXECUTIVE FUNCTION; FEMALE; GENETIC RISK; GENOME-WIDE ASSOCIATION STUDY; HIPPOCAMPUS; HUMAN; MAJOR CLINICAL STUDY; MALE; MEMORY DISORDER; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; ADOLESCENT; ADULT; ATROPHY; CEREBROSPINAL FLUID; COHORT ANALYSIS; COMPLICATION; EARLY DIAGNOSIS; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MULTIFACTORIAL INHERITANCE; PATHOLOGY; POSITRON EMISSION TOMOGRAPHY; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; ALZHEIMER DISEASE; AMYLOID BETA-PEPTIDES; ANILINE COMPOUNDS; ATROPHY; BIOMARKERS; COGNITION DISORDERS; COHORT STUDIES; EARLY DIAGNOSIS; ETHYLENE GLYCOLS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HIPPOCAMPUS; HUMANS; MALE; MEMORY DISORDERS; MULTIFACTORIAL INHERITANCE; POLYMORPHISM, SINGLE NUCLEOTIDE; POSITRON-EMISSION TOMOGRAPHY; YOUNG ADULT;

EID: 84982892926     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000002922     Document Type: Article

References (41)

1. Villemagne VL, Burnham S, Bourgeat P, et al. Amyloid beta deposition, neurodegeneration, and cognitive decline in sporadic Alzheimer's disease: a prospective cohort study. Lancet Neurol 2013;12:357-367.
2. Reiman EM, Langbaum JB, Fleisher AS, et al. Alzheimer's prevention initiative: a plan to accelerate the evaluation of presymptomatic treatments. J Alzheimers Dis 2011;26 (suppl 3):321-329.
3. Sperling RA, Rentz DM, Johnson KA, et al. The A4 study: stopping AD before symptoms begin? Sci Transl Med 2014;6:228fs213.
4. Gatz M, Reynolds CA, Fratiglioni L, et al. Role of genes and environments for explaining Alzheimer disease. Arch Gen Psychiatry 2006;63:168-174.
5. Corder EH, Saunders AM, Strittmatter WJ, et al. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science 1993; 261:921-923.
6. Lambert JC, Ibrahim-Verbaas CA, Harold D, et al. Metaanalysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease. Nat Genet 2013;45: 1452-1458.
7. Escott-Price V, Sims R, Bannister C, et al. Common polygenic variation enhances risk prediction for Alzheimer's disease. Brain 2015;138:3673-3684.
8. Lee SH, Harold D, Nyholt DR, et al. Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis. Hum Mol Genet 2013;22:832-841.
9. Ridge PG, Mukherjee S, Crane PK, Kauwe JS; Alzheimer's Disease Genetics Consortium. Alzheimer's disease: analyzing the missing heritability. PLoS One 2013;8:e79771.
10. Hardy J, Selkoe DJ. The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics. Science 2002;297:353-356.
11. Desikan RS, Schork AJ, Wang Y, et al. Polygenic overlap between C-reactive protein, plasma lipids, and Alzheimer disease. Circulation 2015;131:2061-2069.
12. International Genomics of Alzheimer's Disease Consortium. Convergent genetic and expression data implicate immunity in Alzheimer's disease. Alzheimers Dement 2015;11:658-671.
13. Karch CM, Goate AM. Alzheimer's disease risk genes and mechanisms of disease pathogenesis. Biol Psychiatry 2015; 77:43-51.
14. Morgan K. The three new pathways leading to Alzheimer's disease. Neuropathol Appl Neurobiol 2011;37:353-357.
15. Aisen PS, Petersen RC, Donohue M, Weiner MW; Alzheimer's Disease Neuroimaging Initiative. Alzheimer's Disease Neuroimaging Initiative 2 clinical core: progress and plans. Alzheimers Dement 2015;11:734-739.
16. Ge T, Nichols TE, Lee PH, et al. Massively expedited genome-wide heritability analysis (MEGHA). Proc Natl Acad Sci USA 2015;112:2479-2484.
17. Holmes AJ, Hollinshead MO, O'Keefe TM, et al. Brain genomics Superstruct project initial data release with structural, functional, and behavioral measures. Sci Data 2015; 2:150031.
18. Saykin AJ, Shen L, Yao X, et al. Genetic studies of quantitative MCI and AD phenotypes in ADNI: progress, opportunities, and plans. Alzheimers Dement 2015;11: 792-814.
19. Holmes AJ, Lee PH, Hollinshead MO, et al. Individual differences in amygdala-medial prefrontal anatomy link negative affect, impaired social functioning, and polygenic depression risk. J Neurosci 2012;32: 18087-18100.
20. Genomes Project C, Abecasis GR, Auton A, et al. An integrated map of genetic variation from 1,092 human genomes. Nature 2012;491:56-65.
21. Howie B, Fuchsberger C, Stephens M, Marchini J, Abecasis GR. Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Nat Genet 2012;44:955-959.
22. Shaw LM, Vanderstichele H, Knapik-Czajka M, et al. Cerebrospinal fluid biomarker signature in Alzheimer's disease neuroimaging initiative subjects. Ann Neurol 2009;65:403-413.
23. Landau SM, Mintun MA, Joshi AD, et al. Amyloid deposition, hypometabolism, and longitudinal cognitive decline. Ann Neurol 2012;72:578-586.
24. Jack CR Jr, Bernstein MA, Fox NC, et al. The Alzheimer's Disease Neuroimaging Initiative (ADNI): MRI methods. J Magn Reson Imaging 2008;27:685-691.
25. Crane PK, Carle A, Gibbons LE, et al. Development and assessment of a composite score for memory in the Alzheimer's Disease Neuroimaging Initiative (ADNI). Brain Imaging Behav 2012;6:502-516.
26. Gibbons LE, Carle AC, Mackin RS, et al. A composite score for executive functioning, validated in Alzheimer's Disease Neuroimaging Initiative (ADNI) participants with baseline mild cognitive impairment. Brain Imaging Behav 2012;6:517-527.
27. Dima D, Breen G. Polygenic risk scores in imaging genetics: usefulness and applications. J Psychopharmacol 2015; 29:867-871.
28. International Schizophrenia Consortium; Purcell SM, Wray NR, Stone JL, et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 2009;460:748-752.
29. Beecham GW, Hamilton K, Naj AC, et al. Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias. PLoS Genet 2014;10:e1004606.
30. Lim YY, Maruff P, Pietrzak RH, et al. Effect of amyloid on memory and non-memory decline from preclinical to clinical Alzheimer's disease. Brain 2013;137:221-231.
31. Caselli RJ, Dueck AC, Osborne D, et al. Longitudinal modeling of age-related memory decline and the APOE epsilon4 effect. N Engl J Med 2009;361:255-263.
32. Sabuncu MR, Buckner RL, Smoller JW, et al. The association between a polygenic Alzheimer score and cortical thickness in clinically normal subjects. Cereb Cortex 2012; 22:2653-2661.
33. Harris SE, Davies G, Luciano M, et al. Polygenic risk for Alzheimer's disease is not associated with cognitive ability or cognitive aging in non-demented older people. J Alzheimers Dis 2014;39:565-574.
34. Harold D, Abraham R, Hollingworth P, et al. Genomewide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet 2009;41:1088-1093.
35. Braak H, Braak E. Frequency of stages of Alzheimerrelated lesions in different age categories. Neurobiol Aging 1997;18:351-357.
36. Kok E, Haikonen S, Luoto T, et al. Apolipoprotein E-dependent accumulation of Alzheimer disease-related lesions begins in middle age. Ann Neurol 2009;65:650-657.
37. Price JL, Morris JC. Tangles and plaques in nondemented aging and "preclinical" Alzheimer's disease. Ann Neurol 1999;45:358-368.
38. Wyss-Coray T, Rogers J. Inflammation in Alzheimer disease - a brief review of the basic science and clinical literature. Cold Spring Harb Perspect Med 2013;2:a006346.
39. Wolf AB, Valla J, Bu G, et al. Apolipoprotein E as a beta-amyloid-independent factor in Alzheimer's disease. Alzheimers Res Ther 2013;5:38.
40. Shulman JM, Chen K, Keenan BT, et al. Genetic susceptibility for Alzheimer disease neuritic plaque pathology. JAMA Neurol 2013;70:1150-1157.
41. Hibar DP, Stein JL, Renteria ME, et al. Common genetic variants influence human subcortical brain structures. Nature 2015;520:224-229.