Genetic Evidence for the Involvement of Variants at APOE, BIN1, CR1, and PICALM Loci in Risk of Late-Onset Alzheimer’s Disease and Evaluation for Interactions with APOE Genotypes

Journal of Molecular Neuroscience

Volumn 54, Issue 4, 2014, Pages 780-786

  Gharesouran, Jalal ^a,b   Rezazadeh, Maryam ^b,c   Khorrami, Aziz ^b   Ghojazadeh, Morteza ^d   Talebi, Mahnaz ^e  

^a TABRIZ UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b TABRIZ UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c UNIVERSITY OF SOCIAL WELFARE AND REHABILITATION SCIENCES   (Iran)

^d TABRIZ UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^e TABRIZ UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Alzheimer s disease; APOE; BIN1; CR1; PICALM

Indexed keywords

APOLIPOPROTEIN E; BRIDGING INTEGRATOR 1 PROTEIN; COMPLEMENT COMPONENT C3B RECEPTOR; GENOMIC DNA; PHOSPHATIDYLINOSITOL BINDING CLATHRIN ASSEMBLY PROTEIN; PROTEIN; UNCLASSIFIED DRUG; BIN1 PROTEIN, HUMAN; CLATHRIN ASSEMBLY PROTEIN; CR1 PROTEIN, HUMAN; NUCLEAR PROTEIN; PICALM PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TUMOR SUPPRESSOR PROTEIN;

AGED; ALLELE; ALZHEIMER DISEASE; ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; SINGLE NUCLEOTIDE POLYMORPHISM; CASE CONTROL STUDY; GENE FREQUENCY; GENETICS; VERY ELDERLY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AGED; AGED, 80 AND OVER; ALZHEIMER DISEASE; APOLIPOPROTEINS E; CASE-CONTROL STUDIES; FEMALE; GENE FREQUENCY; GENOTYPE; HUMANS; MALE; MONOMERIC CLATHRIN ASSEMBLY PROTEINS; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, COMPLEMENT 3B; TUMOR SUPPRESSOR PROTEINS;

EID: 84913601756     PISSN: 08958696     EISSN: 15591166     Source Type: Journal    
DOI: 10.1007/s12031-014-0377-5     Document Type: Article

References (52)

1. American Psychiatric Association (1994) Diagnostic and statistical manual of mental disorders, 4th edn. American Psychiatric Association, Washington, DC
2. Barberger-Gateau P, Samieri C, Catherine F, Plourde M (2011) Dietary omega 3 polyunsaturated fatty acids and Alzheimer’s disease: interaction with apolipoprotein E genotype. Curr Alzheimer Res 8(5):479–491
3. Blacker D, Haines JL, Rodes L et al (1997) ApoE-4 and age at onset of Alzheimer’s disease: the NIMH genetics initiative. Neurology 48:139–147
4. Corneveaux JJ, Myers AJ, Allen AN et al (2010) Association of CR1, CLU and PICALM with Alzheimer’s disease in a cohort of clinically characterized and neuropathologically verified individuals. Hum Mol Genet 19(16):3295–301
5. Gatz M, Reynolds CA, Fratiglioni L, Johansson B, Mortimer JA, Berg S (2006) Role of genes and environments for explaining Alzheimer disease. Arch Gen Psychiatry 63:168–174
6. Gharesouran J, Rezazadeh M, Ghojazadeh M et al (2013a) Association of CALHM1 gene polymorphism with late onset alzheimer disease. Middle East J Med Genet 2(2):50–54
7. Gharesouran J, Rezazadeh M, Mohaddes Ardebili SM M et al (2013b) Investigation of five polymorphic DNA markers associated with late onset alzheimer disease. Genetika 45(2):503–514
8. Goate A, Chartier-Harlin MC, Mullan M, Brown J et al (1991) Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer’s disease. Nature 349:704–706
9. Gozalpour E, Kamali K, Mohammd K et al (2010) Association between Alzheimer’s disease and apolipoprotein E polymorphisms. Iran J Publ Health 39:1–6
10. Gyungah J, Adam CN, Gary WB (2010) Meta-analysis confirms CR1, CLU, and PICALM as Alzheimer disease risk loci and reveals interactions with APOE genotypes. Arch Neurol 67(12):1473–1484
11. Harel A, Wu F, Mattson MP, Morris CM, Yao PJ (2008) Evidence for CALM in directing VAMP2 trafficking. Traffic 9:417–429
12. Harold D, Abraham R, Hollingworth P et al (2009) Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer’s disease, and shows evidence for additional susceptibility genes. Nat Genet 41(10):1088–1093
13. Hostage AC, Choudhury K, Doraiswamy PM et al (2013) Dissecting the gene dose-effects of the APOE e4 and e2 alleles on hippocampal volumes in aging and Alzheimer’s disease. PLoS ONE 8(2):e54483
14. Hu X, Pickering E, Liu CY et al (2011) Meta-analysis for genome-wide association study identifies multiple variants at the BIN1 locus associated with late-onset Alzheimer’s disease. PLoS ONE 6(2):e16616
15. Jones L, Harold D, Williams J (2010) Genetic evidence for the involvement of lipid metabolism in Alzheimer’s disease. Biochim Biophys Acta 1801:754–761
16. Jun G, Naj AC, Beecham GW, Wang L et al (2010) Meta-analysis confirms CR1, CLU, and PICALM as Alzheimer disease risk loci and reveals interactions with APOE genotypes. Arch Neurol 67:1473–1484
17. Kamboh MI, Minster RL, Demirci FY (2012a) Association of CLU and PICALM variants with Alzheimer’s disease. Neurobiol Aging 33(3):518–521
18. Kamboh MI, Demirci FY, Wang X et al (2012b) Genome-wide association study of Alzheimer’s disease. Transl Psychiatry 2:e117
19. Khera R, Das N (2009) Complement receptor 1: disease associations and therapeutic implications. Mol Immunol 46(5):761–772
20. Koren J, Jinwal UK et al (2009) Chaperone signalling complexes in Alzheimer’s disease. J Cell Mol Med 13(4):619–630
21. Krych-Goldberg M, Atkinson JP (2001) Structure–function relationships of complement receptor type 1. Immunol Rev 180:112–122
22. Kuusisto J, Koivisto K, Kervinen K et al (1994) Association of apolipoprotein E phenotypes with late onset Alzheimer’s disease: population based study. BMJ 309(6955):636–638
23. Kwok JB (2010) Role of epigenetics in Alzheimer’s and Parkinson’s disease. Epigenomics 2(5):671–682
24. Lambert JC, Heath S, Even G et al (2009) Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer’s disease. Nat Genet 41:1094–1099
25. Lambert JC, Zelenika D, Hiltunen M et al (2011) Evidence of the association of BIN1 and PICALM with the AD risk in contrasting European populations. Neurobiol Aging 32(4):756.e11–5
26. Lazarczyk MJ, Hof PR, Bouras C, Giannakopoulos P (2012) Preclinical Alzheimer disease: identification of cases at risk among cognitively intact older individuals. BMC Med 10:127
27. Lee JH, Cheng R, Barral S et al (2011) Identification of novel loci for Alzheimer disease and replication of CLU, PICALM, and BIN1 in Caribbean Hispanic individuals. Arch Neurol 68(3):320–328
28. Mahley RW, Rall SC (1988) Apolipoprotein E: cholesterol transport protein with expanding role in cell biology. Science 240:622–630
29. Masoodi TA, Al Shammari SA, Al-Muammar MN, Alhamdan AA, Talluri VR (2013) Exploration of deleterious single nucleotide polymorphisms in late-onset Alzheimer disease susceptibility genes. Gene 512(2):429–437
30. Mei Sian C, Sahadevan S (2005) Preclinical Alzheimer’s disease: diagnosis and prediction of progression. Lancet Neurol 4:576–579
31. Naj AC, Jun G, Beecham GW (2011) Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer’s disease. Nat Genet 43:436–441
32. Ohara T, Ninomiya T, Hirakawa Y et al (2012) Association study of susceptibility genes for late-onset Alzheimer’s disease in the Japanese population. Psychiatr Genet 22:290–293
33. Querfurth HW, LaFerla FM (2010) Alzheimer’s disease. N Engl J Med 362:329–344
34. Rao AT, Degnan AJ, Levy LM (2014) Genetics of Alzheimer disease. AJNR Am J Neuroradiol 35(3):457–458
35. Rogaev EI (1999) Genetic factors and a polygenic model of Alzheimer’s disease. Genetika 35(11):1558–1571
36. Rogaev EI, Sherrington R, Rogaeva EA et al (1995) Familial Alzheimer’s disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer’s disease type 3 gene. Nature 376:775–778
37. Roses AD (1996) Apolipoprotein E alleles as risk factors in Alzheimer’s disease. Annu Rev Med 47:387–400
38. Saunders AM, Strittmatter WJ, Schmechel D, George-Hyslop et al (1993) Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer’s disease. Neurology 43:1467–1472
39. Schmechel DE, Saunders AM, Strittmatter WJ et al (1993) Increased amyloid beta-peptide deposition in cerebral cortex as a consequence of apolipoprotein E genotype in late-onset Alzheimer disease. Proc Natl Acad Sci 90:9649–9653
40. Seshadri S, Fitzpatrick AL, Ikram MA et al (2010) Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA 303(18):1832–1840
41. Sherrington R, Rogaev EI, Liang Y et al (1995) Cloning of a gene bearing missense mutations in early-onset familial Alzheimer’s disease. Nature 375:754–760
42. Shi H, Belbin O, Medway C et al (2012) Genetic variants influencing human aging from late-onset Alzheimer’s disease (LOAD) genome-wide association studies (GWAS). Neurobiol Aging 33(8):1849e5–1849e18
43. Stanford JW (2004) APOE genotype effects on Alzheimer’s disease onset and epidemiology. J Mol Neurosci 23:157–165
44. Strittmatter WJ, Saunders AM, Schmechel D, Pericak-Vance M, Enghild J, Salvesen GS, Roses AD (1993) Apolipoprotein E high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc Natl Acad Sci 90:1977–1981
45. Styczyñska M, Strosznajder JB, Religa D et al (2008) Association between genetic and environmental factors and the risk of Alzheimer’s disease. Folia Neuropathol 46(4):249–254
46. Tan JT, Yu W, Zhang ZC et al (2012) Association of GWAS-linked loci with late-onset Alzheimer’s disease in a northern Han Chinese population. Alzheimers Dement 9(5):546–553
47. Tan MS, Yu JT, Tan L (2013) Bridging integrator 1 (BIN1): form, function, and Alzheimer’s disease. Trends Mol Med 19(10):594–603
48. Tebar F, Bohlander SK, Sorkin A (1999) Clathrin assembly lymphoid myeloid leukemia (CALM) protein: localization in endocytic-coated pits, interactions with clathrin, and the impact of overexpression on clathrin-mediated traffic. Mol Biol Cell 10:2687–2702
49. The Dementia Study Group of the Italian Neurological Society (2000) Guidelinesfor the diagnosis of dementia and Alzheimer’s disease. Ital J Neurol Sci 21:187–194
50. van Rossum IA, Vos S, Handels R, Visser PJ (2010) Biomarkers as predictors for conversion from mild cognitive impairment to Alzheimer-type dementia implications for trial design. J Alzheimers Dis 20(3):881–891
51. Wijsman EW, Nathan DP, Yoonha C et al (2011) Genome-wide association of familial late-onset Alzheimer’s disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE. PLoS Genet 7(2):e1001308
52. Zawia N, Lahiri DK, Cardozo-Pelaez F (2009) Epigenetics, oxidative stress and Alzheimer’s disease. Free Radic Biol Med 46(9):1241–1249