Genome-wide association study identifies multiple novel loci associated with disease progression in subjects with mild Cognitive impairment

Translational Psychiatry

Volumn 1, Issue , 2011, Pages

  Hu, X ^a   Pickering, E H ^b   Hall, S K ^a   Naik, S ^b   Liu, Y C ^b   Soares, H ^b,d   Katz, E ^a   Paciga, S A ^a   Liu, W ^b   Aisen, P S ^c   Bales, K R ^b   Samad, T A ^b   John, S L ^a  

^a PFIZER GLOBAL RESEARCH AND DEVELOPMENT   (United States)

^b PFIZER INC   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d BRISTOL MYERS SQUIBB   (United States)

Author keywords

Alzheimer's disease; disease progression; GWAS; MCI

Indexed keywords

AGED; ALZHEIMER DISEASE; ARTICLE; DISEASE COURSE; FEMALE; GENE LOCUS; GENETIC ASSOCIATION; GENETICS; HUMAN; LONGITUDINAL STUDY; MALE; METHODOLOGY; MILD COGNITIVE IMPAIRMENT; PATHOLOGY;

AGED; ALZHEIMER DISEASE; DISEASE PROGRESSION; FEMALE; GENETIC LOCI; GENOME-WIDE ASSOCIATION STUDY; HUMANS; LONGITUDINAL STUDIES; MALE; MILD COGNITIVE IMPAIRMENT;

EID: 81555213216     PISSN: None     EISSN: 21583188     Source Type: Journal    
DOI: 10.1038/tp.2011.50     Document Type: Article

References (32)

1. Gatz M, Reynolds CA, Fratiglioni L, Johansson B, Mortimer JA, Berg S et al. Role of genes and environments for explaining Alzheimer disease. Arch Gen Psychiatry 2006; 63: 168-174. (Pubitemid 43213878)
2. Farrer LA, Cupples LA, Haines JL, Hyman B, Kukull WA, Mayeux R 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: 1349-1356. (Pubitemid 27449696)
3. Bertram L, Lange C, Mullin K, Parkinson M, Hsiao M, Hogan MF et al. Genome-wide association analysis reveals putative Alzheimer's disease susceptibility loci in addition to APOE. Am J Hum Genet 2008; 83: 623-632.
4. Carrasquillo MM, Zou F, Pankratz VS, Wilcox SL, Ma L, Walker LP et al. Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease. Nat Genet 2009; 41: 192-198.
5. Coon KD, Myers AJ, Craig DW, Webster JA, Pearson JV, Lince DH 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: 613-618. (Pubitemid 46663046)
6. Grupe A, Abraham R, Li Y, Rowland C, Hollingworth P, Morgan A 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: 865-873. (Pubitemid 47064316)
7. Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML et al. Genomewide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet 2009; 41: 1088-1093.
8. Lambert JC, Heath S, Even G, Campion D, Sleegers K, Hiltunen M et al. Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet 2009; 41: 1094-1099.
9. Li H, Wetten S, Li L, St Jean PL, Upmanyu R, Surh L et al. Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease. Arch Neurol 2008; 65: 45-53.
10. Potkin SG, Guffanti G, Lakatos A, Turner JA, Kruggel F, Fallon JH 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: e6501.
11. Reiman EM, Webster JA, Myers AJ, Hardy J, Dunckley T, Zismann VL et al. GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers. Neuron 2007; 54: 713-720. (Pubitemid 46843528)
12. Seshadri S, Fitzpatrick AL, Ikram MA, DeStefano AL, Gudnason V, Boada M et al. Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA 2010; 303: 1832-1840.
13. Hu X, Pickering E, Liu YC, Hall S, Fournier H, Katz E et al. Meta-analysis for genome-wide association study identifies multiple variants at the BIN1 locus associated with late-onset Alzheimer's disease. PLoS One 2011; 6: e16616.
14. Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM et al. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet 2011; 43: 429-435.
15. Naj AC, Jun G, Beecham GW, Wang LS, Vardarajan BN, Buros J et al. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet 2011; 43: 436-441.
16. Reitz C, Mayeux R. Use of genetic variation as biomarkers for mild cognitive impairment and progression of mild cognitive impairment to dementia. J Alzheimers Dis 2010; 19: 229-251.
17. Roses AD, Lutz MW, Amrine-Madsen H, Saunders AM, Crenshaw DG, Sundseth SS et al. A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer's disease. Pharmacogenomics J 2009; 10: 375-384.
18. Cruchaga C, Kauwe JS, Mayo K, Spiegel N, Bertelsen S, Nowotny P et al. SNPs associated with cerebrospinal fluid phospho-tau levels influence rate of decline in Alzheimer's disease. PLoS Genet 2010; 6: e1001101.
19. Kim S, Swaminathan S, Shen L, Risacher SL, Nho K, Foroud T et al. Genome-wide association study of CSF biomarkers A{beta}1-42, t-tau, and p-tau181p in the ADNI cohort. Neurology 2010; 76: 69-79.
20. Petersen RC. Normal aging, mild cognitive mpairment, and early Alzheimer's disease. Neurologist 1995; 1: 326-344.
21. Albert MS, Dekosky ST, Dickson D, Dubois B, Feldman HH, Fox NC et al. The diagnosis of mild cognitive impairment due to Alzheimer's disease: recommendations from the National Institute on Aging and Alzheimer's Association workgroup. Alzheimers Dement 2011; 7: 270-279.
22. Petersen RC, Smith GE, Ivnik RJ, Tangalos EG, Schaid DJ, Thibodeau SN et al. Apolipoprotein E status as a predictor of the development of Alzheimer's disease in memory-impaired individuals. JAMA 1995; 273: 1274-1278.
23. O'Bryant SE, Waring SC, Cullum CM, Hall J, Lacritz L, Massman PJ et al. Staging dementia using Clinical Dementia Rating Scale Sum of Boxes scores: a Texas Alzheimer's research consortium study. Arch Neurol 2008; 65: 1091-1095.
24. Petersen RC, Thomas RG, Grundman M, Bennett D, Doody R, Ferris S et al. Vitamin E and donepezil for the treatment of mild cognitive impairment. N Engl J Med 2005; 352: 2379-2388. (Pubitemid 40958434)
25. Saykin AJ, Shen L, Foroud TM, Potkin SG, Swaminathan S, Kim S et al. Alzheimer's Disease Neuroimaging Initiative biomarkers as quantitative phenotypes: genetics core aims, progress, and plans. Alzheimers Dement 2010; 6: 265-273.
26. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81: 559-575. (Pubitemid 47330214)
27. Petersen RC. Mild cognitive impairment as a diagnostic entity. J Intern Med 2004; 256: 183-194. (Pubitemid 39222988)
28. Blennow K, Hampel H. CSF markers for incipient Alzheimer's disease. Lancet Neurol 2003; 2: 605-613. (Pubitemid 37162569)
29. Shaw LM, Vanderstichele H, Knapik-Czajka M, Clark CM, Aisen PS, Petersen RC et al. Cerebrospinal fluid biomarker signature in Alzheimer's disease neuroimaging initiative subjects. Ann Neurol 2009; 65: 403-413.
30. Pasquale EB. Eph-ephrin bidirectional signaling in physiology and disease. Cell 2008; 133: 38-52. (Pubitemid 351442996)
31. Mabb AM, Ehlers MD. Ubiquitination in postsynaptic function and plasticity. Annu Rev Cell Dev Biol 2010; 26: 179-210.
32. Liang WS, Dunckley T, Beach TG, Grover A, Mastroeni D, Walker DG et al. Gene expression profiles in anatomically and functionally distinct regions of the normal aged human brain. Physiol Genomics 2007; 28: 311-322. (Pubitemid 46708771)