Genetics of Alzheimer's Disease

Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders: Second Edition

Volumn , Issue , 2011, Pages 51-61

  Bertram, Lars ^a   Tanzi, Rudolph E ^b  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

Alzheimer's disease; Association; Field synopsis; Genetics; Meta analysis; Risk factor

Indexed keywords

EID: 84886049204     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1002/9781444341256.ch9     Document Type: Chapter

References (66)

1. Tanzi RE. A genetic dichotomy model for the inheritance of Alzheimer 's disease and common age-related disorders. J Clin Invest 1999; 104 (9): 1175-1179.
2. Tanzi RE, Gusella JF, Watkins PC, et al. Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus. Science 1987; 235 (4791): 880-884.
3. St George-Hyslop P, Haines J, Rogaev E, et al. Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14. Nat Genet 1992; 2 (4): 330-334.
4. Haass C, De Strooper B. The presenilins in Alzheimer's disease-proteolysis holds the key. Science 1999; 286 (5441): 916-919.
5. Blacker D, Bertram L, Saunders AJ, et al. Results of a high-resolution genome screen of 437 Alzheimer's disease families. Hum Mol Genet 2003; 12 (1): 23-32.
6. Hamshere ML, Holmans PA, Avramopoulos D, et al. Genome-wide linkage analysis of 723 affected relative pairs with late-onset Alzheimer's disease. Hum Mol Genet 2007; 16 (22): 2703-2712.
7. Butler AW, Ng MY, Hamshere ML, et al. Meta-analysis of linkage studies for Alzheimer's disease-a web resource. Neurobiol Aging 2009; 30 (7): 1037-1047.
8. Bertram L, McQueen MB, Mullin K, Blacker D, Tanzi RE. Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. Nat Genet 2007; 39 (1): 17-23.
9. Bertram L, Tanzi RE. Thirty years of Alzheimer's disease genetics: the implications of systematic meta-analyses. Nat Rev Neurosci 2008; 9 (10): 768-778.
10. Saunders AM, Strittmatter WJ, Schmechel D, et al. Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease. Neurology 1993; 43 (8): 1467-1472.
11. Strittmatter WJ, Saunders AM, Schmechel D, et al. Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc Natl Acad Sci USA 1993; 90 (5): 1977-1981.
12. Allen NC, Bagade S, McQueen MB, et al. Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database. Nat Genet 2008; 40 (7): 827-834.
13. Ioannidis JP, Boffetta P, Little J, et al. Assessment of cumulative evidence on genetic associations: interim guidelines. Int J Epidemiol 2008; 37 (1): 120-132.
14. Khoury MJ, Bertram L, Boffetta P, et al. Genome-wide association studies, field synopses, and the development of the knowledge base on genetic variation and human diseases. Am J Epidemiol 2009; 170 (3): 269-279.
15. McCarthy MI, Abecasis GR, Cardon LR, et al. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 2008; 9 (5): 356-369.
16. Ioannidis JP, Thomas G, Daly MJ. Validating, augmenting and refining genome-wide association signals. Nat Rev Genet 2009; 10 (5): 318-329.
17. Bertram L, Tanzi RE. Genome-wide association studies in Alzheimer's disease. Hum Mol Genet 2009; 18 (R2): R137-R145.
18. Pericak-Vance MA, Bebout JL, Gaskell PC Jr, et al. Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage. Am J Hum Genet 1991; 48 (6): 1034-1050.
19. Farrer LA, Cupples LA, Haines JL, et al. Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium. Jama 1997; 278 (16): 1349-1356.
20. Maloney B, Ge YW, Petersen RC, et al. Functional characterization of three single-nucleotide polymorphisms present in the human APOE promoter sequence: Differential effects in neuronal cells and on DNA-protein interactions. Am J Med Genet B Neuropsychiatr Genet 2010; 153B (1): 185-201.
21. Bu G. Apolipoprotein E and its receptors in Alzheimer's disease: pathways, pathogenesis and therapy. Nat Rev Neurosci 2009; 10 (5): 333-344.
22. Vance JE, Hayashi H. Formation and function of apolipoprotein Econtaining lipoproteins in the nervous system. Biochim Biophys Acta 2010; 1801 (8): 806-818.
23. Lambert JC, Heath S, Even G, et al. Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet 2009; 41 (10): 1094-1099.
24. Harold D, Abraham R, Hollingworth P, et al. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet 2009; 41 (10): 1088-1093.
25. Tycko B, Feng L, Nguyen L, et al. Polymorphisms in the human apolipoprotein-J/clusterin gene: ethnic variation and distribution in Alzheimer's disease. Hum Genet 1996; 98 (4): 430-436.
26. Nuutinen T, Suuronen T, Kauppinen A, Salminen A. Clusterin: a forgotten player in Alzheimer's disease. Brain Res Rev 2009; 61 (2): 89-104.
27. Li H, Wetten S, Li L, et al. Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease. Arch Neurol 2008; 65 (1): 45-53.
28. Reiman EM, Webster JA, Myers AJ, et al. GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers. Neuron 2007; 54 (5): 713-720.
29. Harel A, Wu F, Mattson MP, Morris CM, Yao PJ. Evidence for CALM in directing VAMP2 trafficking. Traffic 2008; 9 (3): 417-429.
30. Taira K, Bujo H, Hirayama S, et al. LR11, a mosaic LDL receptor family member, mediates the uptake of ApoE-rich lipoproteins in vitro. Arterioscler Thromb Vasc Biol 2001; 21 (9): 1501-1506.
31. Andersen OM, Reiche J, Schmidt V, et al. Neuronal sorting proteinrelated receptor sorLA/LR11 regulates processing of the amyloid precursor protein. Proc Natl Acad Sci USA 2005; 102 (38): 13461-13466.
32. Rogaeva E, Meng Y, Lee JH, et al. The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nat Genet 2007; 39 (2): 168-177.
33. Offe K, Dodson SE, Shoemaker JT, et al. The lipoprotein receptor LR11 regulates amyloid beta production and amyloid precursor protein traffic in endosomal compartments. J Neurosci 2006; 26 (5): 1596-1603.
34. Andersen OM, Schmidt V, Spoelgen R, et al. Molecular dissection of the interaction between amyloid precursor protein and its neuronal trafficking receptor SorLA/LR11. Biochemistry 2006; 45 (8): 2618-2628.
35. Scherzer CR, Offe K, Gearing M, et al. Loss of apolipoprotein E receptor LR11 in Alzheimer disease. Arch Neurol 2004; 61 (8): 1200-1205.
36. Sager KL, Wuu J, Leurgans SE, et al. Neuronal LR11/sorLA expression is reduced in mild cognitive impairment. Ann Neurol 2007; 62 (6): 640-647.
37. Grupe A, Abraham R, Li Y, et al. Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants. Hum Mol Genet 2007; 16 (8): 865-873.
38. Schjeide BM, McQueen MB, Mullin K, et al. Assessment of Alzheimer's disease case-control associations using family-based methods. Neurogenetics 2009; 10 (1): 19-25.
39. Bertram L, Lange C, Mullin K, et al. Genome-wide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE. Am J Hum Genet 2008; 83 (5): 623-632.
40. Azoitei N, Brey A, Busch T, Fulda S, Adler G, Seufferlein T. Thirty-eight-negative kinase 1 (TNK1) facilitates TNFalpha-induced apoptosis by blocking NF-kappaB activation. Oncogene 2007; 26 (45): 6536-6545.
41. Keavney B, McKenzie CA, Connell JM, et al. Measured haplotype analysis of the angiotensin-I converting enzyme gene. Hum Mol Genet 1998; 7 (11): 1745-1751.
42. Hu J, Igarashi A, Kamata M, Nakagawa H. Angiotensin-converting enzyme degrades Alzheimer amyloid beta-peptide (A beta); retards A beta aggregation, deposition, fibril formation; and inhibits cytotoxicity. J Biol Chem 2001; 276 (51): 47863-47868.
43. Eckman EA, Adams SK, Troendle FJ, et al. Regulation of steady-state beta-amyloid levels in the brain by neprilysin and endothelin-converting enzyme but not angiotensin-converting enzyme. J Biol Chem 2006; 281 (41): 30471-30478.
44. Hemming ML, Selkoe DJ, Farris W. Effects of prolonged angiotensinconverting enzyme inhibitor treatment on amyloid beta-protein metabolism in mouse models of Alzheimer disease. Neurobiol Dis 2007; 26 (1): 273-281.
45. Takeda S, Sato N, Ogihara T, Morishita R. The renin-angiotensin system, hypertension and cognitive dysfunction in Alzheimer's disease: new therapeutic potential. Front Biosci 2008; 13: 2253-2265.
46. Ohrui T, Tomita N, Sato-Nakagawa T, et al. Effects of brain-penetrating ACE inhibitors on Alzheimer disease progression. Neurology 2004; 63 (7): 1324-1325.
47. Miners JS, Ashby E, Van Helmond Z, et al. Angiotensin-converting enzyme (ACE) levels and activity in Alzheimer's disease, and relationship of perivascular ACE-1 to cerebral amyloid angiopathy. Neuropathol Appl Neurobiol 2008; 34 (2): 181-193.
48. Hillian AD, Londono D, Dunn JM, et al. Modulation of cystic fibrosis lung disease by variants in interleukin-8. Genes Immun 2008; 9 (6): 501-508.
49. Bakshi P, Margenthaler E, Laporte V, Crawford F, Mullan M. Novel role of CXCR2 in regulation of gamma-secretase activity. ACS Chem Biol 2008; 3 (12): 777-789.
50. Catusse J, Liotard A, Loillier B, Pruneau D, Paquet JL. Characterization of the molecular interactions of interleukin-8 (CXCL8), growth related oncogen alpha (CXCL1) and a non-peptide antagonist (SB 225002) with the human CXCR2. Biochem Pharmacol 2003; 65 (5): 813-821.
51. Abisambra JF, Fiorelli T, Padmanabhan J, Neame P, Wefes I, Potter H. LDLR expression and localization are altered in mouse and human cell culture models of Alzheimer's disease. PLoS One 2010; 5 (1): e8556.
52. Liljedahl U, Fredriksson M, Dahlgren A, Syvänen AC. Detecting imbalanced expression of SNP alleles by minisequencing on microarrays. BMC Biotechnol 2004; 4: 24.
53. Kim J, Castellano JM, Jiang H, et al. Overexpression of low-density lipoprotein receptor in the brain markedly inhibits amyloid deposition and increases extracellular A beta clearance. Neuron 2009; 64 (5): 632-644.
54. Benussi L, Ghidoni R, Steinhoff T, et al. Alzheimer disease-associated cystatin C variant undergoes impaired secretion. Neurobiol Dis 2003; 13 (1): 15-21.
55. Vinters HV, Nishimura GS, Secor DL, Pardridge WM. Immunoreactive A4 and gamma-trace peptide colocalization in amyloidotic arteriolar lesions in brains of patients with Alzheimer's disease. Am J Pathol 1990; 137 (2): 233-240.
56. Sastre M, Calero M, Pawlik M, et al. Binding of cystatin C to Alzheimer 's amyloid beta inhibits in vitro amyloid fibril formation. Neurobiol Aging 2004; 25 (8): 1033-1043.
57. Kaeser SA, Herzig MC, Coomaraswamy J, et al. Cystatin C modulates cerebral beta-amyloidosis. Nat Genet 2007; 39 (12): 1437-1439.
58. Nagai A, Ryu JK, Terashima M, et al. Neuronal cell death induced by cystatin C in vivo and in cultured human CNS neurons is inhibited with cathepsin B. Brain Res 2005; 1066 (1-2): 120-128.
59. Levy E, Jaskolski M, Grubb A. The role of cystatin C in cerebral amyloid angiopathy and stroke: cell biology and animal models. Brain Pathol 2006; 16 (1): 60-70.
60. Coon KD, Myers AJ, Craig DW, et al. A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease. J Clin Psychiatry 2007; 68 (4): 613-618.
61. Poduslo SE, Huang R, Huang J, Smith S. Genome screen of late-onset Alzheimer's extended pedigrees identifies TRPC4AP by haplotype analysis. Am J Med Genet B Neuropsychiatr Genet 2009; 150B (1): 50-55.
62. Abraham R, Moskvina V, Sims R, et al. A genome-wide association study for late-onset Alzheimer's disease using DNA pooling. BMC Med Genomics 2008; 1: 44.
63. Beecham GW, Martin ER, Li YJ, et al. Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease. Am J Hum Genet 2009; 84 (1): 35-43.
64. Carrasquillo MM, Zou F, Pankratz VS, et al. Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease. Nat Genet 2009; 41 (2): 192-198.
65. Potkin SG, Guffanti G, Lakatos A, et al. Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. PLoS One 2009; 4 (8): e6501.
66. Heinzen EL, Need AC, Hayden KM, et al. Genome-Wide Scan of Copy Number Variation in Late-Onset Alzheimer's Disease. J Alzheimers Dis 2009; (epub ahead of print).