Intermediate phenotypes identify divergent pathways to alzheimer's disease

PLoS ONE

Volumn 5, Issue 6, 2010, Pages

  Shulman, Joshua M ^a,b,c   Chibnik, Lori B ^a,b,c   Aubin, Cristin ^a,b,c   Schneider, Julie A ^d,e   Bennett, David A ^e   de Jager, Philip L ^a,b,c  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

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

^d RUSH UNIVERSITY MEDICAL CENTER   (United States)

^e RUSH UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHOENOLPYRUVATE CARBOXYLASE; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN; ZINC FINGER PROTEIN 224;

AGED; ALZHEIMER DISEASE; ARTICLE; BRAIN INFARCTION; COGNITION; COGNITIVE DEFECT; CONTROLLED STUDY; DEATH; FEMALE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; LEWY BODY; MAJOR CLINICAL STUDY; MALE; NEUROFIBRILLARY TANGLE; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM; GENETIC PREDISPOSITION; GENETICS; METABOLISM; NEURITE; NEUROFILAMENT; PATHOLOGY; PATHOPHYSIOLOGY; SENILE PLAQUE;

AGED, 80 AND OVER; ALZHEIMER DISEASE; COGNITION; FEMALE; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; NEURITES; NEUROFIBRILS; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SENILE PLAQUES;

EID: 77955288165     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0011244     Document Type: Article

References (52)

1. Ertekin-Taner N (2007) Genetics of Alzheimer's disease: a centennial review. Neurol Clin 25: 611-667.
2. Bertram L, McQueen M, Mullin K, Blacker D, Tanzi R (2007) Systematic metaanalyses of Alzheimer disease genetic association studies: the AlzGene database. Nat Genet 39: 17-23.
3. Cousin E, Mace ́ S, Rocher C, Dib C, Muzard G, et al. (2009) No replication of genetic association between candidate polymorphisms and Alzheimer's disease. Neurobiology of Aging. in press.
4. Feulner T, Laws S, Friedrich P, Wagenpfeil S, Wurst S, et al. (2009) Examination of the current top candidate genes for AD in a genome-wide association study. Mol Psychiatry. in press.
5. Abraham R, Moskvina V, Sims R, Hollingworth P, Morgan A, et al. (2008) A genome-wide association study for late-onset Alzheimer's disease using DNA pooling. BMC medical genomics 1: 44.
6. Beecham GW, Martin ER, Li Y-J, Slifer MA, Gilbert JR, et al. (2009) Genomewide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease. Am J Hum Genet 84: 35-43.
7. Bertram L, Lange C, Mullin K, Parkinson M, Hsiao M, et al. (2008) Genomewide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE. Am J Hum Genet 83: 623-632.
8. Bertram L, Tanzi RE (2009) Genome-wide association studies in Alzheimer's disease. Human Molecular Genetics 18: R137-145.
9. Carrasquillo MM, Zou F, Pankratz VS, Wilcox SL, Ma L, et al. (2009) Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease. Nat Genet 41: 192-198.
10. Grupe A, Abraham R, Li Y, Rowland C, Hollingworth P, et al. (2007) Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants. Hum Mol Genet 16: 865-873.
11. Li H, Wetten S, Li L, St, Jean PL, Upmanyu R, et al. (2008) Candidate Single- Nucleotide Polymorphisms From a Genomewide Association Study of Alzheimer Disease. Archives of Neurology 65: 45-53.
12. Li Y, Grupe A, Rowland C, Nowotny P, Kauwe J, et al. (2006) DAPK1 variants are associated with Alzheimer's disease and allele-specific expression. Hum Mol Genet 15: 2560-2568.
13. Liu F, Arias-Vásquez A, Sleegers K, Aulchenko YS, Kayser M, et al. (2007) A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population. Am J Hum Genet 81: 17-31.
14. Reiman E, Webster J, Myers A, Hardy J, Dunckley T, et al. (2007) GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers. Neuron 54: 713-720.
15. Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, et al. (2009) Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet 41: 1088-1093.
16. Lambert J-C, Heath S, Even G, Campion D, Sleegers K, et al. (2009) Genomewide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet 41: 1094-1099.
17. Bennett D, Schneider J, Arvanitakis Z, Kelly J, Aggarwal N, et al. (2006) Neuropathology of older persons without cognitive impairment from two community-based studies. Neurology 66: 1837-1844.
18. Mcqueen MB, Bertram L, Lange C, Becker KD, Albert MS, et al. (2007) Exploring candidate gene associations with neuropsychological performance. Am J Med Genet 144B: 987-991.
19. Potkin SG, Guffanti G, Lakatos A, Turner JA, Kruggel F, 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: e6501.
20. Seshadri S, DeStefano A, Au R, Massaro J, Beiser A, et al. (2007) Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study. BMC Med Genet 8 Suppl 1: S15.
21. Papassotiropoulos A, Streffer JR, Tsolaki M, Schmid S, Thal D, et al. (2003) Increased brain beta-amyloid load, phosphorylated tau, and risk of Alzheimer disease associated with an intronic CYP46 polymorphism. Archives of Neurology 60: 29-35.
22. Peskind E, Li G, Shofer J, Quinn J, Kaye J, et al. (2006) Age and apolipoprotein E*4 allele effects on cerebrospinal fluid beta-amyloid 42 in adults with normal cognition. Arch Neurol 63: 936-939.
23. Bennett DA, De Jager PL, Leurgans SE, Schneider JA (2009) Neuropathologic intermediate phenotypes enhance association to Alzheimer susceptibility alleles. Neurology 72: 1495-1503.
24. Bennett D, Schneider J, Wilson R, Bienias J, Berry-Kravis E, et al. (2005) Amyloid mediates the association of apolipoprotein E e4 allele to cognitive function in older people. J Neurol Neurosurg Psychiatry 76: 1194-1199.
25. Mortimer JA, Snowdon DA, Markesbery WR (2009) The effect of APOEepsilon4 on dementia is mediated by Alzheimer neuropathology. Alzheimer Dis Assoc Disord 23: 152-157.
26. Bertram L, Tanzi RE (2008) Thirty years of Alzheimer's disease genetics: the implications of systematic meta-analyses. Nat Rev Neurosci 9: 768-778.
27. McKhann G, Drachman D, Folstein M, Katzman R, Price D, et al. (1984) Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 34: 939-944.
28. Bennett DA, Schneider JA, Aggarwal NT, Arvanitakis Z, Shah RC, et al. (2006) Decision rules guiding the clinical diagnosis of Alzheimer's disease in two community-based cohort studies compared to standard practice in a clinic-based cohort study. Neuroepidemiology 27: 169-176.
29. Bennett DA, Wilson RS, Schneider JA, Evans DA, Beckett LA, et al. (2002) Natural history of mild cognitive impairment in older persons. Neurology 59: 198-205.
30. Folstein MF, Folstein SE, McHugh PR (1975) ''Mini-mental state''. A practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 12: 189-198.
31. Arvanitakis Z, Wilson RS, Bienias JL, Evans DA, Bennett DA (2004) Diabetes mellitus and risk of Alzheimer disease and decline in cognitive function. Archives of Neurology 61: 661-666.
32. The National Institute on Aging and Reagan Institute Working Group on Diagnostic Criteria for the Neuropathological Assessment of Alzheimer's Disease (1997) Consensus recommendations for the postmortem diagnosis of Alzheimer's disease. Neurobiol Aging 18: S1-2.
33. Braak H, Braak E (1991) Neuropathological stageing of Alzheimer-related changes. Acta Neuropathol 82: 239-259.
34. Mirra SS, Heyman A, McKeel D, Sumi SM, Crain BJ, et al. (1991) The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part II. Standardization of the neuropathologic assessment of Alzheimer's disease. Neurology 41: 479-486.
35. Bennett DA, Schneider JA, Tang Y, Arnold SE, Wilson RS (2006) The effect of social networks on the relation between Alzheimer's disease pathology and level of cognitive function in old people: a longitudinal cohort study. Lancet Neurol 5: 406-412.
36. Bennett DA, Wilson RS, Schneider JA, Evans DA, Aggarwal NT, et al. (2003) Apolipoprotein E epsilon4 allele, AD pathology, and the clinical expression of Alzheimer's disease. Neurology 60: 246-252.
37. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira M, et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575.
38. Figgins JA, Minster RL, Demirci FY, Dekosky ST, Kamboh MI (2009) Association studies of 22 candidate SNPs with late-onset Alzheimer's disease. Am J Med Genet B Neuropsychiatr Genet 150B: 520-526.
39. Sonnen JA, Larson EB, Crane PK, Haneuse S, Li G, et al. (2007) Pathological correlates of dementia in a longitudinal, population-based sample of aging. Ann Neurol 62: 406-413.
40. Cao H, van der Veer E, Ban MR, Hanley AJG, Zinman B, et al. (2004) Promoter polymorphism in PCK1 (phosphoenolpyruvate carboxykinase gene) associated with type 2 diabetes mellitus. J Clin Endocrinol Metab 89: 898-903.
41. Hamilton G, Proitsi P, Jehu L, Morgan A, Williams J, et al. (2007) Candidate gene association study of insulin signaling genes and Alzheimer's disease: Evidence for SOS2, PCK1, and PPARcas susceptibility loci. Am J Med Genet 144B: 508-516.
42. Willer CJ, Bonnycastle LL, Conneely KN, Duren WL, Jackson AU, et al. (2007) Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes. Diabetes 56: 256-264.
43. Schneider J, Arvanitakis Z, Bang W, Bennett D (2007) Mixed brain pathologies account for most dementia cases in community-dwelling older persons. Neurology 69: 2197-2204.
44. Medugno L, Florio F, Cesaro E, Grosso M, Lupo A, et al. (2007) Differential expression and cellular localization of ZNF224 and ZNF255, two isoforms of the Krüppel-like zinc-finger protein family. Gene 403: 125-131.
45. Medugno L, Florio F, De Cegli R, Grosso M, Lupo A, et al. (2005) The Krüppel-like zinc-finger protein ZNF224 represses aldolase A gene transcription by interacting with the KAP-1 co-repressor protein. Gene 359: 35-43.
46. Yang J, Kalhan SC, Hanson RW (2009) What is the metabolic role of phosphoenolpyruvate carboxykinase? J Biol Chem 284: 27025-27029.
47. Arvanitakis Z, Schneider JA, Wilson RS, Li Y, Arnold SE, et al. (2006) Diabetes is related to cerebral infarction but not to AD pathology in older persons. Neurology 67: 1960-1965.
48. McLean CA, Cherny RA, Fraser FW, Fuller SJ, Smith MJ, et al. (1999) Soluble pool of Abeta amyloid as a determinant of severity of neurodegeneration in Alzheimer's disease. Ann Neurol 46: 860-866.
49. Santacruz K, Lewis J, Spires T, Paulson J, Kotilinek L, et al. (2005) Tau suppression in a neurodegenerative mouse model improves memory function. Science 309: 476-481.
50. Lin P-I, Vance JM, Pericak-Vance MA, Martin ER (2007) No gene is an island: the flip-flop phenomenon. Am J Hum Genet 80: 531-538.
51. Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, et al. (2007) A second generation human haplotype map of over 3.1 million SNPs. Nature 449: 851-861.
52. Schneider JA, Arvanitakis Z, Leurgans SE, Bennett DA (2009) The neuropathology of probable Alzheimer disease and mild cognitive impairment. Ann Neurol 66: 200-208.