Amyloid pathway-based candidate gene analysis of [ 11 C]PiB-PET in the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohort

Brain Imaging and Behavior

Volumn 6, Issue 1, 2012, Pages 1-15

  Swaminathan, Shanker ^a   Shen, Li ^a   Risacher, Shannon L ^a   Yoder, Karmen K ^a   West, John D ^a   Kim, Sungeun ^a   Nho, Kwangsik ^a,b   Foroud, Tatiana ^a   Inlow, Mark ^a,c   Potkin, Steven G ^d   Huentelman, Matthew J ^e   Craig, David W ^e   Jagust, William J ^f,g   Koeppe, Robert A ^h   Mathis, Chester A ⁱ   Jack Jr , Clifford R ^j   Weiner, Michael W ^k,l   Saykin, Andrew J ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b REGENSTRIEF INSTITUTE   (United States)

^c ROSE HULMAN INSTITUTE OF TECHNOLOGY   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

^h UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

ⁱ UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^j MAYO CLINIC   (United States)

^k UNIVERSITY OF CALIFORNIA   (United States)

^l SAN FRANCISCO VETERANS AFFAIRS MEDICAL CENTER   (United States)

more..

Author keywords

ADNI; Alzheimer's disease; Endophenotype; Pathway based gene analysis; PiB PET; Voxel based analysis

Indexed keywords

AMYLOID; AMYLOID BETA PROTEIN; APOLIPOPROTEIN E; DESMOSTEROL; PITTSBURGH COMPOUND B;

AGED; ALZHEIMER DISEASE; AMYLOID PLAQUE; APOPTOSIS; ARTICLE; BRAIN MAPPING; BRAIN REGION; COPY NUMBER VARIATION; DRUG UPTAKE; FEMALE; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; MAJOR CLINICAL STUDY; MALE; NEUROIMAGING; NEUROPROTECTION; OXIDATIVE STRESS; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; VOXEL BASED MORPHOMETRY;

AGED; AGED, 80 AND OVER; ALZHEIMER DISEASE; AMYLOIDOSIS; BENZOTHIAZOLES; BRAIN; CARBON RADIOISOTOPES; COHORT STUDIES; DATABASES, FACTUAL; FEMALE; GENE EXPRESSION PROFILING; GENOTYPE; HUMANS; MALE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; POSITRON-EMISSION TOMOGRAPHY; RISK FACTORS;

EID: 84857456402     PISSN: 19317557     EISSN: 19317565     Source Type: Journal    
DOI: 10.1007/s11682-011-9136-1     Document Type: Article

References (59)

1. Ashburner, M., Ball, C. A., Blake, J. A., Botstein, D., Butler, H., Cherry, J. M., et al. (2000). Gene ontology: tool for the unification of biology. Nature Genetics, 25(1), 25-29.
2. Association, A. (2011). 2011 Alzheimer's disease facts and figures. Alzheimer's & Dementia, 7(2), 208-244. doi: 10. 1016/j. jalz. 2011. 02. 004.
3. Benjamini, Y., & Hochberg, Y. (1995). Controlling the false discovery rate: a practical and powerful approach to multiple testing. Journal of the Royal Statistical Society. Series B (Methodological), 57(1), 289-300.
4. Berti, V., Nacmias, B., Bagnoli, S., & Sorbi, S. (2011). Alzheimer's disease: genetic basis and amyloid imaging as endophenotype. The Quarterly Journal of Nuclear Medicine and Molecular Imaging, 55(3), 225-236.
5. Bertram, L., McQueen, M. B., Mullin, K., Blacker, D., & Tanzi, R. E. (2007). Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. Nature Genetics, 39(1), 17-23. http://www. nature. com/ng/journal/v39/n1/suppinfo/ng1934_S1. html.
6. Bertram, L., Lill, C. M., & Tanzi, R. E. (2010). The genetics of Alzheimer disease: back to the future. Neuron, 68(2), 270-281. doi: 10. 1016/j. neuron. 2010. 10. 013.
7. Chumbley, J. R., & Friston, K. J. (2009). False discovery rate revisited: FDR and topological inference using Gaussian random fields. NeuroImage, 44(1), 62-70. doi: 10. 1016/j. neuroimage. 2008. 05. 021.
8. Chumbley, J., Worsley, K., Flandin, G., & Friston, K. (2010). Topological FDR for neuroimaging. NeuroImage, 49(4), 3057-3064. doi: 10. 1016/j. neuroimage. 2009. 10. 090.
9. Clark, C. M., Schneider, J. A., Bedell, B. J., Beach, T. G., Bilker, W. B., Mintun, M. A., et al. (2011). Use of Florbetapir-PET for imaging β-amyloid pathology. JAMA: The Journal of the American Medical Association, 305(3), 275-283. doi: 10. 1001/jama. 2010. 2008.
10. Corder, E., Saunders, A., Strittmatter, W., Schmechel, D., Gaskell, P., Small, G., et al. (1993). Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families. Science, 261(5123), 921-923. doi: 10. 1126/science. 8346443.
11. Drzezga, A., Grimmer, T., Henriksen, G., Mühlau, M., Perneczky, R., Miederer, I., et al. (2009). Effect of APOE genotype on amyloid plaque load and gray matter volume in Alzheimer disease. Neurology, 72(17), 1487-1494. doi: 10. 1212/WNL. 0b013e3181a2e8d0.
12. Farrer, L. A., Cupples, L. A., Haines, J. L., Hyman, B., Kukull, W. A., Mayeux, R., et al. (1997). Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. JAMA: The Journal of the American Medical Association, 278(16), 1349-1356. doi: 10. 1001/jama. 1997. 03550160069041.
13. Friston, K. J., Holmes, A. P., Worsley, K. J., Poline, J. P., Frith, C. D., & Frackowiak, R. S. J. (1994). Statistical parametric maps in functional imaging: a general linear approach. Human Brain Mapping, 2(4), 189-210. doi: 10. 1002/hbm. 460020402.
14. Gauderman, W., & Morrison, J. (2006). QUANTO 1. 1: A computer program for power and sample size calculations for genetic-epidemiology studies, http://hydra. usc. edu/gxe. Retrieved from http://hydra. usc. edu/gxe.
15. Genovese, C. R., Lazar, N. A., & Nichols, T. (2002). Thresholding of statistical maps in functional neuroimaging using the false discovery rate. NeuroImage, 15(4), 870-878. doi: 10. 1006/nimg. 2001. 1037.
16. Greeve, I., Hermans-Borgmeyer, I., Brellinger, C., Kasper, D., Gomez-Isla, T., Behl, C., et al. (2000). The human DIMINUTO/DWARF1 homolog seladin-1 confers resistance to Alzheimer's disease-associated neurodegeneration and oxidative stress. The Journal of Neuroscience, 20(19), 7345-7352.
17. Hampel, H., Frank, R., Broich, K., Teipel, S. J., Katz, R. G., Hardy, J., et al. (2010). Biomarkers for Alzheimer's disease: academic, industry and regulatory perspectives. Nature Reviews Drug Discovery, 9(7), 560-574. http://www. nature. com/nrd/journal/v9/n7/suppinfo/nrd3115_S1. html.
18. Han, M.-R., Schellenberg, G., Wang, L.-S., & the Alzheimer's Disease Neuroimaging Initiative (2010). Genome-wide association reveals genetic effects on human Abeta42 and tau protein levels in cerebrospinal fluids: a case control study. BMC Neurology, 10(1), 90.
19. Harold, D., Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Hamshere, M. L., et al. (2009). Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nature Genetics, 41(10), 1088-1093. http://www. nature. com/ng/journal/v41/n10/suppinfo/ng. 440_S1. html.
20. Hirata-Fukae, C., Li, H.-F., Hoe, H.-S., Gray, A. J., Minami, S. S., Hamada, K., et al. (2008). Females exhibit more extensive amyloid, but not tau, pathology in an Alzheimer transgenic model. Brain Research, 1216, 92-103. doi: 10. 1016/j. brainres. 2008. 03. 079.
21. Hollingworth, P., Harold, D., Sims, R., Gerrish, A., Lambert, J.-C., Carrasquillo, M. M., et al. (2011). Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nature Genetics, 43(5), 429-435. http://www. nature. com/ng/journal/v43/n5/abs/ng. 803. html#supplementary-information.
22. Jack, C. R., Bernstein, M. A., Fox, N. C., Thompson, P., Alexander, G., Harvey, D., et al. (2008). The Alzheimer's disease neuroimaging initiative (ADNI): MRI methods. Journal of Magnetic Resonance Imaging, 27(4), 685-691. doi: 10. 1002/jmri. 21049.
23. Jack, C. R., Lowe, V. J., Senjem, M. L., Weigand, S. D., Kemp, B. J., Shiung, M. M., et al. (2008). 11 C PiB and structural MRI provide complementary information in imaging of Alzheimer's disease and amnestic mild cognitive impairment. Brain, 131(3), 665-680. doi: 10. 1093/brain/awm336.
24. Jagust, W. J., Landau, S. M., Shaw, L. M., Trojanowski, J. Q., Koeppe, R. A., Reiman, E. M., et al. (2009). Relationships between biomarkers in aging and dementia. Neurology, 73(15), 1193-1199. doi: 10. 1212/WNL. 0b013e3181bc010c.
25. Jagust, W. J., Bandy, D., Chen, K., Foster, N. L., Landau, S. M., Mathis, C. A., et al. (2010). The Alzheimer's disease Neuroimaging initiative positron emission tomography core. Alzheimer's & Dementia, 6(3), 221-229. doi: 10. 1016/j. jalz. 2010. 03. 003.
26. Jun, G., Naj, A. C., Beecham, G. W., Wang, L.-S., Buros, J., Gallins, P. J., et al. (2010). Meta-analysis confirms CR1, CLU, and PICALM as Alzheimer disease risk loci and reveals interactions with APOE genotypes. Archives of Neurology, 67(12), 1473-1484. doi: 10. 1001/archneurol. 2010. 201.
27. Kemppainen, N. M., Aalto, S., Wilson, I. A., Någren, K., Helin, S., Brück, A., et al. (2006). Voxel-based analysis of PET amyloid ligand [11 C]PIB uptake in Alzheimer disease. Neurology, 67(9), 1575-1580. doi: 10. 1212/01. wnl. 0000240117. 55680. 0a.
28. Kim, S., Swaminathan, S., Shen, L., Risacher, S. L., Nho, K., Foroud, T., et al. (2011). Genome-wide association study of CSF biomarkers Aβ1-42, t-tau, and p-tau181p in the ADNI cohort. Neurology, 76(1), 69-79. doi: 10. 1212/WNL. 0b013e318204a397.
29. Klunk, W. E., Engler, H., Nordberg, A., Wang, Y., Blomqvist, G., Holt, D. P., et al. (2004). Imaging brain amyloid in Alzheimer's disease with Pittsburgh compound-B. Annals of Neurology, 55(3), 306-319. doi: 10. 1002/ana. 20009.
30. Lambert, J.-C., Heath, S., Even, G., Campion, D., Sleegers, K., Hiltunen, M., et al. (2009). Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nature Genetics, 41(10), 1094-1099. http://www. nature. com/ng/journal/v41/n10/suppinfo/ng. 439_S1. html.
31. Lämsä, R., Helisalmi, S., Hiltunen, M., Herukka, S. K., Tapiola, T., Pirttilä, T., et al. (2007). The association study between DHCR24 polymorphisms and Alzheimer's disease. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 144B(7), 906-910. doi: 10. 1002/ajmg. b. 30532.
32. Lancaster, J. L., Rainey, L. H., Summerlin, J. L., Freitas, C. S., Fox, P. T., Evans, A. C., et al. (1997). Automated labeling of the human brain: a preliminary report on the development and evaluation of a forwardtransform method. Human Brain Mapping, 5(4), 238-242. doi:10.1002/(sici)1097-0193(1997)5:4<238::aid-hbm6>3.0.co;2-4.
33. Lancaster, J. L., Woldorff, M. G., Parsons, L. M., Liotti, M., Freitas, C.S., Rainey, L., et al. (2000). Automated Talairach Atlas labels for functional brain mapping. Human Brain Mapping, 10(3), 120-131. doi:10.1002/1097-0193(200007)10:3<120::aid-hbm30>3.0.co;2-8.
34. Loh, K. P., Huang, S. H., De Silva, R., Tan, B. K., & Zhu, Y. Z. (2006). Oxidative stress: apoptosis in neuronal injury. Current Alzheimer Research, 3(4), 327-337.
35. Morris, J. C., Roe, C. M., Xiong, C., Fagan, A. M., Goate, A. M., Holtzman, D. M., et al. (2010). APOE predicts amyloid-beta but not tau Alzheimer pathology in cognitively normal aging. Annals of Neurology, 67(1), 122-131. doi: 10. 1002/ana. 21843.
36. Naj, A. C., Beecham, G. W., Martin, E. R., Gallins, P. J., Powell, E. H., Konidari, I., et al. (2010). Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities. PLoS Genetics, 6(9), e1001130.
37. Naj, A. C., Jun, G., Beecham, G. W., Wang, L.-S., Vardarajan, B. N., Buros, J., et al. (2011). Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nature Genetics, 43(5), 436-441. http://www. nature. com/ng/journal/v43/n5/abs/ng. 801. html#supplementary-information.
38. Peri, A., Danza, G., Benvenuti, S., Luciani, P., Deledda, C., Rosati, F., et al. (2009). New insights on the neuroprotective role of sterols and sex steroids: the seladin-1/DHCR24 paradigm. Frontiers in Neuroendocrinology, 30(2), 119-129. doi: 10. 1016/j. yfrne. 2009. 03. 006.
39. Petersen, R. C., Roberts, R. O., Knopman, D. S., Boeve, B. F., Geda, Y. E., Ivnik, R. J., et al. (2009). Mild cognitive impairment: ten years later. Archives of Neurology, 66(12), 1447-1455. doi: 10. 1001/archneurol. 2009. 266.
40. Potkin, S. G., Guffanti, G., Lakatos, A., Turner, J. A., Kruggel, F., Fallon, J. H., et al. (2009). Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. PloS One, 4(8), e6501.
41. Potkin, S. G., Turner, J. A., Guffanti, G., Lakatos, A., Torri, F., Keator, D. B., et al. (2009). Genome-wide strategies for discovering genetic influences on cognition and cognitive disorders: methodological considerations. Cognitive Neuropsychiatry, 14(4), 391-418.
42. Price, A. L., Patterson, N. J., Plenge, R. M., Weinblatt, M. E., Shadick, N. A., & Reich, D. (2006). Principal components analysis corrects for stratification in genome-wide association studies. Nature Genetics, 38(8), 904-909. doi: 10. 1038/ng1847.
43. Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., et al. (2007). PLINK: a tool set for whole-genome association and population-based linkage analyses. The American Journal of Human Genetics, 81(3), 559-575. doi: 10. 1086/519795.
44. Rabinovici, G. D., & Jagust, W. J. (2009). Amyloid imaging in aging and dementia: testing the amyloid hypothesis in vivo. Behavioural Neurology, 21(1), 117-128.
45. Reiman, E. M., Chen, K., Liu, X., Bandy, D., Yu, M., Lee, W., et al. (2009). Fibrillar amyloid-β burden in cognitively normal people at 3 levels of genetic risk for Alzheimer's disease. Proceedings of the National Academy of Sciences, 106(16), 6820-6825. doi: 10. 1073/pnas. 0900345106.
46. Risacher, S. L., Saykin, A. J., West, J. D., Shen, L., Firpi, H. A., & McDonald, B. C. (2009). Baseline MRI predictors of conversion from MCI to probable AD in the ADNI cohort. Current Alzheimer Research, 6(4), 347-361.
47. Roses, A. D., Lutz, M. W., Amrine-Madsen, H., Saunders, A. M., Crenshaw, D. G., Sundseth, S. S., et al. (2010). A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer's disease. The Pharmacogenomics Journal, 10(5), 375-384. http://www.nature.com/tpj/journal/v10/n5/suppinfo/tpj200969s1.html.
48. Sarajärvi, T., Haapasalo, A., Viswanathan, J., Mäkinen, P., Laitinen, M., Soininen, H., et al. (2009). Down-regulation of seladin-1 increases BACE1 levels and activity through enhanced GGA3 depletion during apoptosis. The Journal of Biological Chemistry, 284(49), 34433-34443. doi: 10. 1074/jbc. M109. 036202.
49. Saunders, A. M., Strittmatter, W. J., Schmechel, D., St. George-Hyslop, P. H., Pericak-Vance, M. A., Joo, S. H., et al. (1993). Association of apolipoprotein E allele ε{lunate}4 with late-onset familial and sporadic Alzheimer's disease. Neurology, 43(8), 1467.
50. Saykin, A. J., Shen, L., Foroud, T. M., Potkin, S. G., Swaminathan, S., Kim, S., et al. (2010). Alzheimer's disease neuroimaging initiative biomarkers as quantitative phenotypes: genetics core aims, progress, and plans. Alzheimer's & Dementia, 6(3), 265-273. doi: 10. 1016/j.jalz.2010.03.013.
51. Seshadri, S., Fitzpatrick, A. L., Ikram, M. A., DeStefano, A. L., Gudnason, V., Boada, M., et al. (2010). Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA: The Journal of the American Medical Association, 303(18), 1832-1840. doi: 10. 1001/jama. 2010. 574.
52. Shen, L., Kim, S., Risacher, S. L., Nho, K., Swaminathan, S., West, J. D., et al. (2010). 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(3), 1051-1063. doi: 10. 1016/j. neuroimage. 2010. 01. 042.
53. Stein, J. L., Hua, X., Lee, S., Ho, A. J., Leow, A. D., Toga, A. W., et al. (2010). Voxelwise genome-wide association study (vGWAS). NeuroImage, 53(3), 1160-1174. doi: 10. 1016/j. neuroimage. 2010. 02. 032.
54. Stein, J. L., Hua, X., Morra, J. H., Lee, S., Hibar, D. P., Ho, A. J., et al. (2010). Genome-wide analysis reveals novel genes influencing temporal lobe structure with relevance to neurodegeneration in Alzheimer's disease. NeuroImage, 51(2), 542-554. doi: 10. 1016/j. neuroimage. 2010. 02. 068.
55. Thal, D. R., Rüb, U., Orantes, M., & Braak, H. (2002). Phases of Aβ-deposition in the human brain and its relevance for the development of AD. Neurology, 58(12), 1791-1800.
56. van den Oord, E. J. C. G. (2008). Controlling false discoveries in genetic studies. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics, 147B(5), 637-644. doi: 10. 1002/ajmg. b. 30650.
57. Ventura, V., Paciorek, C. J., & Risbey, J. S. (2004). Controlling the proportion of falsely rejected hypotheses when conducting multiple tests with climatological data. Journal of Climate, 17(22), 4343-4356. doi: 10. 1175/3199. 1.
58. Weiner, M. W., Aisen, P. S., Jack Jr, C. R., Jagust, W. J., Trojanowski, J. Q., Shaw, L., et al. (2010). The Alzheimer's Disease Neuroimaging Initiative: Progress report and future plans. Alzheimer's and Dementia, 6(3), 202-211. e207. doi: 10. 1016/j. jalz. 2010. 03. 007.
59. Yamada, M., Tsukagoshi, H., Otomo, E., & Hayakawa, M. (1988). Systemic amyloid deposition in old age and dementia of Alzheimer type: the relationship of brain amyloid to other amyloid. Acta Neuropathologica, 77(2), 136-141. doi: 10. 1007/bf00687423.