Single-nucleotide polymorphisms of GSK3B, GAB2 and SORL1 in late-onset Alzheimer's disease: Interactions with the APOE genotype

Clinics

Volumn 68, Issue 2, 2013, Pages 277-280

  Izzo, Giselle ^a   Forlenza, Orestes V ^a,c   dos Santos, Bernardo ^a,c   Bertolucci, Paulo H F ^b   Ojopi, Elida B ^a   Gattaz, Wagner F ^a,c   Kerr, Daniel Shikanai ^a,c  

^a Laboratory of Neuroscience (LIM 27)   (Brazil)

^b FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^c UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

APOLIPOPROTEIN E4; CARRIER PROTEIN; CYTOSKELETON PROTEIN; GAB2 PROTEIN, HUMAN; LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN; NIN PROTEIN, HUMAN; NUCLEAR PROTEIN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; SORL1 PROTEIN, HUMAN;

AGED; ALZHEIMER DISEASE; ARTICLE; FEMALE; GENETICS; HUMAN; MALE; ONSET AGE; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AGE OF ONSET; AGED; ALZHEIMER DISEASE; APOLIPOPROTEIN E4; CYTOSKELETAL PROTEINS; FEMALE; HUMANS; LDL-RECEPTOR RELATED PROTEINS; MALE; MEMBRANE TRANSPORT PROTEINS; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

EID: 84875642858     PISSN: 18075932     EISSN: None     Source Type: Journal    
DOI: 10.6061/clinics/2013(02)RC01     Document Type: Article

References (34)

1. Kennedy JL, Farrer LA, Andreasen NC, Mayeux R, St George-Hyslop P. The genetics of adult-onset neuropsychiatric disease: complexities and conundra?. Science. 2003;302(5646):822-6, http://dx.doi.org/10.1126/science.1092132.
2. Gatz M, Reynolds CA, Fratiglioni L, Johansson B, Mortimer JA, Berg S, et al. Role of genes and environments for explaining Alzheimer disease. Archives of general psychiatry. 2006;63(2):168-74, http://dx.doi.org/10. 1001/archpsyc.63.2.168
3. van der Vlies AE, Pijnenburg YAL, Koene T, Klein M, Kok A, Scheltens P, et al. Cognitive impairment in Alzheimer's disease is modified by APOE genotype. Dement Geriatr Cogn Disord. 2007;24(2):98-103, http://dx.doi.org/10.1159/000104467.
4. Almeida OP, Shimokomaki CM. Apolipoprotein E4 and Alzheimer's disease in Sao Paulo-Brazil. Arquivos de neuro-psiquiatria. 1997;55(1):1-7, http://dx.doi.org/10.1590/S0004-282X1997000100001.
5. 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(10):1088-93, http://dx.doi.org/10.1038/ng.440.
6. Lambert J, 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(10):1094-9, http://dx.doi.org/10.1038/ng.439.
7. Meng Y, Lee JH, Cheng R, St George-Hyslop P, Mayeux R, Farrer LA. Association between SORL1 and Alzheimer's disease in a genome-wide study. Neuroreport. 2007;18(17):1761-4, http://dx.doi.org/10.1097/WNR.0b013e3282f13e7a.
8. Hunter DJ, Altshuler D, Rader DJ. From Darwin's finches to canaries in the coal mine--mining the genome for new biology. N Engl J Med. 2008 Jun;358(26):2760-3.
9. Hyman SE. A glimmer of light for neuropsychiatric disorders. Nature. 2008;455(7215):890-3, http://dx.doi.org/10.1038/nature07454.
10. Bettens K, Brouwers N, Engelborghs S, De Deyn PP, Van Broeckhoven C, Sleegers K. SORL1 is genetically associated with increased risk for lateonset Alzheimer disease in the Belgian population. Hum Mutat. 2008;29(5):769-70, http://dx.doi.org/10.1002/humu.20725.
11. Minster RL, DeKosky ST, Kamboh MI. No association of SORL1 SNPs with Alzheimer's disease. Neurosci Lett. 2008;440(2):190-2, http://dx. doi.org/10.1016/j.neulet.2008.05.082.
12. Cellini E, Tedde A, Bagnoli S, Pradella S, Piacentini S, Sorbi S et al. Implication of sex and SORL1 variants in italian patients with Alzheimer disease. Arch Neurol. 2009;66(10):1260-6, http://dx.doi.org/10.1001/archneurol.2009.101.
13. Rogaeva E, Meng Y, Lee JH, Gu Y, Kawarai T, Zou F, et al. The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nat Genet. 2007;39(2):168-77, http://dx.doi.org/10.1038/ng1943.
14. Furuya TK, da Silva PNO, Payão SLM, Rasmussen LT, de Labio RW, Bertolucci PHF et al. SORL1 and SIRT1 mRNA expression and promoter methylation levels in aging and Alzheimer's Disease. Neurochem Int. 2012;61(7):973-5, http://dx.doi.org/10.1016/j.neuint.2012.07.014.
15. 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(5):713-20, http://dx.doi.org/10.1016/j.neuron.2007.05. 022.
16. Sleegers K, Bettens K, Brouwers N, Engelborghs S, van Miegroet H, De Deyn PP, et al. Common variation in GRB-associated Binding Protein 2 (GAB2) and increased risk for Alzheimer dementia. Hum Mutat. 2009;30(2):E338-44, http://dx.doi.org/10.1002/humu.20909.
17. Chapuis J, Hannequin D, Pasquier F, Bentham P, Brice A, Leber I, et al. Association study of the GAB2 gene with the risk of developing Alzheimer's disease. Neurobiol Dis. 2008;30(1):103-6, http://dx.doi.org/10.1016/j.nbd.2007.12.006.
18. Lin K, Tang M, Han H, Guo Y, Lin Y, Ma C. GAB2 is not associated with late-onset Alzheimer's disease in Chinese Han. Neurol Sci. 2010;31(3):277-81, http://dx.doi.org/10.1007/s10072-009-0178-8.
19. Zhong X, Yu J, Hou G, Xing Y, Jiang H, Li Y, et al. Common variant in GAB2 is associated with late-onset Alzheimer's disease in Han Chinese. Clin Chim Acta. 2011;412(5-6):446-9, http://dx.doi.org/10.1016/j.cca. 2010.11.022.
20. Kwok JBJ, Loy CT, Hamilton G, Lau E, Hallupp M, Williams J et al. Glycogen synthase kinase-3beta and tau genes interact in Alzheimer's disease. Ann Neurol. 2008;64(4):446-54, http://dx.doi.org/10.1002/ana. 21476.
21. 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(7):939-44, http://dx.doi.org/10.1212/WNL.34.7.939.
22. Forlenza OV, Diniz BS, Talib LL, Radanovic M, Yassuda MS, Ojopi EB, et al. Clinical and biological predictors of Alzheimer's disease in patients with amnestic mild cognitive impairment. Rev Bras Psiquiatr. 2010;32(3):216-22, http://dx.doi.org/10.1590/S1516-44462010005000002.
23. Saunders AM, Strittmatter WJ, Schmechel D, George-Hyslop PH, Pericak-Vance MA, Joo SH, et al. Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease. Neurology. 1993;43(8):1467-72, http://dx.doi.org/10.1212/WNL.43.8.1467.
24. Strittmatter WJ, Saunders AM, Schmechel D, Pericak-Vance M, Enghild J, Salvesen GS, et al. Apolipoprotein E: high-avidity binding to betaamyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc Natl Acad Sci U S A. 1993;90(5):1977-81, http://dx.doi.org/10.1073/pnas.90.5.1977.
25. Chen K, Reiman EM, Alexander GE, Caselli RJ, Gerkin R, Bandy D, et al. Correlations between apolipoprotein E epsilon4 gene dose and whole brain atrophy rates. Am J Psychiatry. 2007;164(6):916-21.
26. Souza DRS, de Godoy MR, Hotta J, Tajara EH, Brandão AC, Pinheiro Júnior S, et al. Association of apolipoprotein E polymorphism in lateonset Alzheimer's disease and vascular dementia in Brazilians. Braz J Med Biol Res. 2003;36(7):919-23.
27. Bahia VS, Kok F, Marie SN, Shinjo SO, Caramelli P, Nitrini R. Polymorphisms of APOE and LRP genes in Brazilian individuals with Alzheimer disease. Alzheimer Dis Assoc Disord. 2008;22(1):61-5, http://dx.doi.org/10.1097/WAD.0b013e31815a9da7.
28. Kwok JBJ, Hallupp M, Loy CT, Chan DKY, Woo J, Mellick GD, et al. GSK3B polymorphisms alter transcription and splicing in Parkinson's disease. Ann Neurol. 2005;58(6):829-39, http://dx.doi.org/10.1002/ana. 20691.
29. Terwel D, Dewachter I, Van Leuven F. Axonal transport, tau protein, and neurodegeneration in Alzheimer's disease. Neuromolecular Med. 2002;2(2):151-65, http://dx.doi.org/10.1385/NMM:2:2:151.
30. Nawrot B. Targeting BACE with small inhibitory nucleic acids-a future for Alzheimer's disease therapy?. Acta Biochim Pol. 2004;51(2):431-44.
31. Russo C, Dolcini V, Salis S, Venezia V, Violani E, Carlo P, et al. Signal transduction through tyrosine-phosphorylated carboxy-terminal fragments of APP via an enhanced interaction with Shc/Grb2 adaptor proteins in reactive astrocytes of Alzheimer's disease brain. AnnNY Acad Sci. 2002;973:323-33, http://dx.doi.org/10.1111/j.1749-6632.2002.tb04660. x.
32. Nizzari M, Venezia V, Repetto E, Caorsi V, Magrassi R, Gagliani MC, et al. Amyloid precursor protein and Presenilin1 interact with the adaptor GRB2 and modulate ERK 1,2 signaling. J Biol Chem. 2007;282(18):13833-44, http://dx.doi.org/10.1074/jbc.M610146200.
33. Baki L, Shioi J, Wen P, Shao Z, Schwarzman A, Gama-Sosa M, et al. PS1 activates PI3K thus inhibiting GSK-3 activity and tau overphosphorylation: effects of FAD mutations. EMBO J. 2004;23(13):2586-96, http://dx. doi.org/10.1038/sj.emboj.7600251.
34. Hernández F, Gómez de Barreda E, Fuster-Matanzo A, Lucas JJ, Avila J. GSK3: a possible link between beta amyloid peptide and tau protein. Exp Neurol. 2010;223(2):322-5, http://dx.doi.org/10.1016/j.expneurol.2009. 09.011.