Genome-wide copy-number variation study of psychosis in Alzheimer's disease

Translational Psychiatry

Volumn 5, Issue , 2015, Pages

  Zheng, X ^a,b   Demirci, F Y ^a   Barmada, M M ^a   Richardson, G A ^a,c   Lopez, O L ^c,d   Sweet, R A ^c,d   Kamboh, M I ^a,c   Feingold, E ^a  

^a UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^b UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^d VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOMATOSIS POLYPOSIS COLI 2 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; APC2 PROTEIN, HUMAN; CELL CYCLE PROTEIN; CHAPERONE; CNTLN PROTEIN, HUMAN; CYTOSKELETON PROTEIN; JAG2 PROTEIN, HUMAN; MEMBRANE PROTEIN; NUCLEAR PROTEIN; PROTEIN JAGGED 2; SET PROTEIN, HUMAN; SIGNAL PEPTIDE; TRANSCRIPTION FACTOR; ZFPM1 PROTEIN, HUMAN;

AGED; ALZHEIMER DISEASE; ARTICLE; CHROMOSOME 14; CHROMOSOME 16; CHROMOSOME 17; CHROMOSOME 19; CHROMOSOME 4; CHROMOSOME 9; COMPARATIVE STUDY; CONTROLLED STUDY; COPY NUMBER VARIATION; FEMALE; GENE DELETION; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PSYCHOSIS; SINGLE NUCLEOTIDE POLYMORPHISM; CASE CONTROL STUDY; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; MULTIVARIATE ANALYSIS; ODDS RATIO; PHENOTYPE; PSYCHOLOGY; REGRESSION ANALYSIS; SEVERITY OF ILLNESS INDEX; VERY ELDERLY;

AGED; AGED, 80 AND OVER; ALZHEIMER DISEASE; CASE-CONTROL STUDIES; CELL CYCLE PROTEINS; CYTOSKELETAL PROTEINS; DNA COPY NUMBER VARIATIONS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HISTONE CHAPERONES; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; JAGGED-2 PROTEIN; MALE; MEMBRANE PROTEINS; MULTIVARIATE ANALYSIS; NUCLEAR PROTEINS; ODDS RATIO; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; PSYCHOTIC DISORDERS; REGRESSION ANALYSIS; SEVERITY OF ILLNESS INDEX; TRANSCRIPTION FACTORS;

EID: 84934875330     PISSN: None     EISSN: 21583188     Source Type: Journal    
DOI: 10.1038/tp.2015.64     Document Type: Article

References (66)

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.
2. Kamboh MI, Demirci FY, Wang X, Minster RL, Carrasquillo MM, Pankratz VS et al. Genome-wide association study of Alzheimer's disease. Transl Psychiatry 2012; 2: e117.
3. 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.
4. Coon KD, Myers AJ, Craig DW, Webster JA, Pearson JV, Lince DH et al. A highdensity 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.
5. 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.
6. Li H, Wetten S, Li L, St Jean PL, Upmanyu R, Surh L et al. Candidate singlenucleotide polymorphisms from a genomewide association study of Alzheimer disease. Arch Neurol 2008; 65: 45-53.
7. 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.
8. Beecham GW, Martin ER, Li YJ, Slifer MA, Gilbert JR, Haines JL et al. Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease. Am J Hum Genet 2009; 84: 35-43.
9. Abraham R, Moskvina V, Sims R, Hollingworth P, Morgan A, Georgieva L et al. A genome-wide association study for late-onset Alzheimer's disease using DNA pooling. BMC Med Genomics 2008; 1: 44.
10. 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.
11. Lambert JC, Heath S, Even G, Campion D, Sleegers K, Hiltunen M et al. Genomewide association study identifies variants at CLU and CR1 associated with Alzheimer' s disease. Nat Genet 2009; 41: 1094-1099.
12. Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML et al. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet 2009; 41: 1088-1093.
13. 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.
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 lateonset Alzheimer's disease. Nat Genet 2011; 43: 436-441.
16. Guffanti G, Torri F, Rasmussen J, Clark AP, Lakatos A, Turner JA et al. Increased CNV-region deletions in mild cognitive impairment (MCI) and Alzheimer's disease (AD) subjects in the ADNI sample. Genomics 2013; 102: 112-122.
17. Szigeti K, Kellermayer B, Lentini JM, Trummer B, Lal D, Doody RS et al. Ordered subset analysis of copy number variation association with age at onset of Alzheimer's disease. J Alzheimers Dis 2014; 41: 1063-1071.
18. Swaminathan S, Shen L, Kim S, Inlow M, West JD, Faber KM et al. Analysis of copy number variation in Alzheimer's disease: the NIALOAD/NCRAD Family Study. Curr Alzheimer Res 2012; 9: 801-814.
19. Szigeti K, Lal D, Li Y, Doody RS, Wilhelmsen K, Yan L et al. Genome-wide scan for copy number variation association with age at onset of Alzheimer's disease. J Alzheimers Dis 2013; 33: 517-523.
20. Ghani M, Pinto D, Lee JH, Grinberg Y, Sato C, Moreno D et al. Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics. G3 (Bethesda) 2012; 2: 71-78.
21. Rovelet-Lecrux A, Legallic S, Wallon D, Flaman JM, Martinaud O, Bombois S et al. A genome-wide study reveals rare CNVs exclusive to extreme phenotypes of Alzheimer disease. Eur J Hum Genet 2012; 20: 613-617.
22. Chapman J, Rees E, Harold D, Ivanov D, Gerrish A, Sims R et al. A genome-wide study shows a limited contribution of rare copy number variants to Alzheimer's disease risk. Hum Mol Genet 2013; 22: 816-824.
23. Shaw CA, Li Y, Wiszniewska J, Chasse S, Zaidi SN, Jin W et al. Olfactory copy number association with age at onset of Alzheimer disease. Neurology 2011; 76: 1302-1309.
24. Heinzen EL, Need AC, Hayden KM, Chiba-Falek O, Roses AD, Strittmatter WJ. Genome-wide scan of copy number variation in late-onset Alzheimer's disease. J Alzheimers Dis 2010; 19: 69-77.
25. Bacanu SA, Devlin B, Chowdari KV, DeKosky ST, Nimgaonkar VL, Sweet RA. Heritability of psychosis in Alzheimer disease. Am J Geriatr Psychiatry 2005; 13: 624-627.
26. Hollingworth P, Sweet R, Sims R, Harold D, Russo G, Abraham R et al. Genomewide association study of Alzheimer's disease with psychotic symptoms. Mol Psychiatry. 2012; 17: 1316-1327.
27. Lopez OL, Becker JT, Klunk W, Saxton J, Hamilton RL, Kaufer D et al. Research evaluation and diagnosis of probable Alzheimer's disease over the last two decades: I. Neurology 2000; 55: 1854-1862.
28. Lopez OL, Becker JT, Klunk W, Saxton J, Hamilton RL, Kaufer D et al. Research evaluation and diagnosis of possible Alzheimer's disease over the last two decades: II. Neurology 2000; 55: 1863-1869.
29. McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM. 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 1984; 34: 939-944.
30. Tariot PN, Mack JL, Patterson MB, Edland SD, Weiner MF, Fillenbaum G et al. The Behavior Rating Scale for Dementia of the Consortium to Establish a Registry for Alzheimer's Disease. Am J Psychiatry 1995; 152: 1349-1357.
31. DeMichele-Sweet MA, Klei L, Devlin B, Ferrell RE, Weamer EA, Emanuel JE. No association of psychosis in Alzheimer disease with neurodegenerative pathway genes. Neurobiol Aging 2011; 32: 555.e9-555.e11.
32. Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SF. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 2007; 17: 1665-1674.
33. Willis JA, Mukherjee S, Orlow I, Viale A, Offit K, Kurtz RC et al. Genome-wide analysis of the role of copy-number variation in pancreatic cancer risk. Front Genet 2014; 5: 29.
34. Elia J, Glessner JT, Wang K, Takahashi N, Shtir CJ, Hadley D et al. Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder. Nat Genet 2011; 44: 78-84.
35. R Development Core Team. R: A Language and Environment for Statistical Computing. R Foundation for Statistical Computing: Vienna, Austria, 2012; ISBN 3-900051-07-0, URL http://www.R-project.org.
36. de Smith AJ, Tsalenko A, Sampas N, Scheffer A, Yamada NA, Tsang P et al. Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases. Hum Mol Genet 2007; 16: 2783-2794.
37. van Es JH, Kirkpatrick C, van de Wetering M, Molenaar M, Miles A, Kuipers J et al. Identification of APC2, a homologue of the adenomatous polyposis coli tumour suppressor. Curr Biol 1999; 9: 105-108.
38. Nakagawa H, Murata Y, Koyama K, Fujiyama A, Miyoshi Y, Monden M et al. Identification of a brain-specific APC homologue, APCL, and its interaction with beta-catenin. Cancer Res 1998; 58: 5176-5181.
39. Freyberg Z, Ferrando SJ, Javitch JA. Roles of the Akt/GSK-3 and Wnt signaling pathways in schizophrenia and antipsychotic drug action. Am J Psychiatry 2010; 167: 388-396.
40. Okerlund ND, Cheyette BN. Synaptic Wnt signaling-a contributor to major psychiatric disorders? J Neurodev Disord 2011; 3: 162-174.
41. Mao Y, Ge X, Frank CL, Madison JM, Koehler AN, Doud MK et al. Disrupted in schizophrenia 1 regulates neuronal progenitor proliferation via modulation of GSK3beta/beta-catenin signaling. Cell 2009; 136: 1017-1031.
42. Singh KK. An emerging role for Wnt and GSK3 signaling pathways in schizophrenia. Clin Genet 2013; 83: 511-517.
43. Alimohamad H, Rajakumar N, Seah YH, Rushlow W. Antipsychotics alter the protein expression levels of beta-catenin and GSK-3 in the rat medial prefrontal cortex and striatum. Biol Psychiatry 2005; 57: 533-542.
44. Kuczera T, Stilling RM, Hsia HE, Bahari-Javan S, Irniger S, Nasmyth K et al. The anaphase promoting complex is required for memory function in mice. Learn Mem 2010; 18: 49-57.
45. Shintani T, Takeuchi Y, Fujikawa A, Noda M. Directional neuronal migration is impaired in mice lacking adenomatous polyposis coli 2. J Neurosci 2012; 32: 6468-6484.
46. Shintani T, Ihara M, Tani S, Sakuraba J, Sakuta H, Noda M. APC2 plays an essential role in axonal projections through the regulation of microtubule stability. J Neurosci 2009; 29: 11628-11640.
47. Cui DH, Jiang KD, Jiang SD, Xu YF, Yao H. The tumor suppressor adenomatous polyposis coli gene is associated with susceptibility to schizophrenia. Mol Psychiatry 2005; 10: 669-677.
48. Liu F, Grundke-Iqbal I, Iqbal K, Gong CX. Contributions of protein phosphatases PP1, PP2A, PP2B and PP5 to the regulation of tau phosphorylation. Eur J Neurosci 2005; 22: 1942-1950.
49. Tanimukai H, Grundke-Iqbal I, Iqbal K. Inhibitors of protein phosphatase-2A: topography and subcellular localization. Brain Res Mol Brain Res 2004; 126: 146-156.
50. Tsujio I, Zaidi T, Xu J, Kotula L, Grundke-Iqbal I, Iqbal K. Inhibitors of protein phosphatase-2A from human brain structures, immunocytological localization and activities towards dephosphorylation of the Alzheimer type hyperphosphorylated tau. FEBS Lett 2005; 579: 363-372.
51. Tanimukai H, Grundke-Iqbal I, Iqbal K. Up-regulation of inhibitors of protein phosphatase-2A in Alzheimer's disease. Am J Pathol 2005; 166: 1761-1771.
52. Yu G, Yan T, Feng Y, Liu X, Xia Y, Luo H et al. Ser9 phosphorylation causes cytoplasmic detention of I2PP2A/SET in Alzheimer disease. Neurobiol Aging 2013; 34: 1748-1758.
53. Chohan MO, Khatoon S, Iqbal IG, Iqbal K. Involvement of I2PP2A in the abnormal hyperphosphorylation of tau and its reversal by Memantine. FEBS Lett 2006; 580: 3973-3979.
54. Murray PS, Kumar S, Demichele-Sweet MA, Sweet RA. Psychosis in Alzheimer's disease. Biol Psychiatry 2014; 75: 542-552.
55. Luo B, Aster JC, Hasserjian RP, Kuo F, Sklar J. Isolation and functional analysis of a cDNA for human Jagged2, a gene encoding a ligand for the Notch1 receptor. Mol Cell Biol 1997; 17: 6057-6067.
56. Kyriazis GA, Belal C, Madan M, Taylor DG, Wang J, Wei Z et al. Stress-induced switch in Numb isoforms enhances Notch-dependent expression of subtype-specific transient receptor potential channel. J Biol Chem 2010; 285: 6811-6825.
57. Song W, Nadeau P, Yuan M, Yang X, Shen J, Yankner BA. Proteolytic release and nuclear translocation of Notch-1 are induced by presenilin-1 and impaired by pathogenic presenilin-1 mutations. Proc Natl Acad Sci USA 1999; 96: 6959-6963.
58. Berezovska O, Xia MQ, Hyman BT. Notch is expressed in adult brain, is coexpressed with presenilin-1, and is altered in Alzheimer disease. J Neuropathol Exp Neurol 1998; 57: 738-745.
59. Ables JL, Breunig JJ, Eisch AJ, Rakic P. Not(ch) just development: Notch signalling in the adult brain. Nat Rev Neurosci 2011; 12: 269-283.
60. Freson K, Thys C, Wittewrongel C, Vermylen J, Hoylaerts MF, Van Geet C. Molecular cloning and characterization of the GATA1 cofactor human FOG1 and assessment of its binding to GATA1 proteins carrying D218 substitutions. Hum Genet 2003; 112: 42-49.
61. Makino K, Umeda K, Uezu A, Hiragami Y, Sakamoto T, Ihn H et al. Identification and characterization of the novel centrosomal protein centlein. Biochem Biophys Res Commun 2008; 366: 958-962.
62. Sawińska M, Schmitt JG, Sagulenko E, Westermann F, Schwab M, Savelyeva L. Novel aphidicolin-inducible common fragile site FRA9G maps to 9p22.2, within the C9orf39 gene. Genes Chromosomes Cancer 2007; 46: 991-999.
63. Smith CL, Bolton A, Nguyen G. Genomic and epigenomic instability, fragile sites, schizophrenia and autism. Curr Genomics 2010; 11: 447-469.
64. Xu H, Poh WT, Sim X, Ong RT, Suo C, Tay WT et al. SgD-CNV, a database for common and rare copy number variants in three Asian populations. Hum Mutat 2011; 32: 1341-1349.
65. Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D et al. Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 2009; 84: 148-161.
66. MacDonald JR, Ziman R, Yuen RK, Feuk L, Scherer SW. The database of genomic variants: a curated collection of structural variation in the human genome. Nucleic Acids Res 2014; 42(Database issue): D986-D992.