Polymorphisms of CR1, CLU and PICALM confer susceptibility of Alzheimer's disease in a southern Chinese population

Neurobiology of Aging

Volumn 33, Issue 1, 2012, Pages 210.e1-210.e7

  Chen, Lu Hua ^a   Kao, Patrick Yu Ping ^a   Fan, Yan Hui ^a   Ho, Deborah Tip Yin ^a   Chan, Cherry Sze Yan ^a   Yik, Ping Yiu ^a   Ha, Joyce Cheuk Tung ^a   Chu, Leung Wing ^a,b   Song, You Qiang ^a,b  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

^b UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

Alzheimer's disease; Chinese; CLU and PICALM; CR1; Genetics

Indexed keywords

APOLIPOPROTEIN E4; BINDING PROTEIN; CLUSTERIN; COMPLEMENT COMPONENT C3B RECEPTOR; PHOSPHATIDYLINOSITOL BINDING CLATHRIN ASSEMBLY PROTEIN; UNCLASSIFIED DRUG;

AGED; ALLELE; ALZHEIMER DISEASE; ARTICLE; CASE CONTROL STUDY; CHINESE; CLU GENE; CONTROLLED STUDY; CR1 GENE; FEMALE; GENE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIVARIATE LOGISTIC REGRESSION ANALYSIS; PICALM GENE; POPULATION GENETICS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 81355148562     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2011.09.016     Document Type: Article

References (32)

1. Bell R.D., Sagare A.P., Friedman A.E., Bedi G.S., Holtzman D.M., Deane R., Zlokovic B.V. Transport pathways for clearance of human Alzheimer's amyloid beta-peptide and apolipoproteins E and J in the mouse central nervous system. J. Cereb. Blood Flow Metab 2007, 27:909-918.
2. Bertram L., Tanzi R.E. Thirty years of Alzheimer's disease genetics: the implications of systematic meta-analyses. Nat. Rev. Neurosci 2008, 9:768-778.
3. Bickeböller H., Campion D., Brice A., Amouyel P., Hannequin D., Didierjean O., Penet C., Martin C., Pérez-Tur J., Michon A., Dubois B., Ledoze F., Thomas-Anterion C., Pasquier F., Puel M., Demonet J.F., Moreaud O., Babron M.C., Meulien D., Guez D., Chartier-Harlin M.C., Frebourg T., Agid Y., Martinez M., Clerget-Darpoux F. Apolipoprotein E and Alzheimer disease: genotype-specific risks by age and sex. Am. J. Hum. Genet. 1997, 60:439-446.
4. Carey R.M., Balcz B.A., Lopez-Coviella I., Slack B.E. Inhibition of dynamin-dependent endocytosis increases shedding of the amyloid precursor protein ectodomain and reduces generation of amyloid beta protein. BMC Cell Biol 2005, 6:30.
5. Carrasquillo M.M., Belbin O., Hunter T.A., Ma L., Bisceglio G.D., Zou F., Crook J.E., Pankratz V.S., Dickson D.W., Graff-Radford N.R., Petersen R.C., Morgan K., Younkin S.G. Replication of CLU, CR1, and PICALM associations with Alzheimer disease. Arch. Neurol 2010, 67:961-964.
6. Corneveaux J.J., Myers A.J., Allen A.N., Pruzin J.J., Ramirez M., Engel A., Nalls M.A., Chen K., Lee W., Chewning K., Villa S.E., Meechoovet H.B., Gerber J.D., Frost D., Benson H.L., O'Reilly S., Chibnik L.B., Shulman J.M., Singleton A.B., Craig D.W., Van Keuren-Jensen K.R., Dunckley T., Bennett D.A., De Jager P.L., Heward C., Hardy J., Reiman E.M., Huentelman M.J. Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. Hum. Mol. Genet 2010, 19:3295-3301.
7. DeMattos R.B., O'dell M.A., Parsadanian M., Taylor J.W., Harmony J.A., Bales K.R., Paul S.M., Aronow B.J., Holtzman D.M. Clusterin promotes amyloid plaque formation and is critical for neuritic toxicity in a mouse model of Alzheimer's disease. Proc. Natl. Acad. Sci. U. S. A 2002, 99:10843-10848.
8. Dong M.J., Peng B., Lin X.T., Zhao J., Zhou Y.R., Wang R.H. The prevalence of dementia in the People's Republic of China: a systematic analysis of 1980-2004 studies. Age Ageing 2007, 36:619-624.
9. Goate A., Chartier-Harlin M.C., Mullan M., Brown J., Crawford F., Fidani L., Giuffra L., Haynes A., Irving N., James L., et al. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 1991, 349:704-706.
10. Harold D., Abraham R., Hollingworth P., Sims R., Gerrish A., Hamshere M.L., Pahwa J.S., Moskvina V., Dowzell K., Williams A., Jones N., Thomas C., Stretton A., Morgan A.R., Lovestone S., Powell J., Proitsi P., Lupton M.K., Brayne C., Rubinsztein D.C., Gill M., Lawlor B., Lynch A., Morgan K., Brown K.S., Passmore P.A., Craig D., McGuinness B., Todd S., Holmes C., Mann D., Smith A.D., Love S., Kehoe P.G., Hardy J., Mead S., Fox N., Rossor M., Collinge J., Maier W., Jessen F., Schurmann B., van den Bussche H., Heuser I., Kornhuber J., Wiltfang J., Dichgans M., Frolich L., Hampel H., Hull M., Rujescu D., Goate A.M., Kauwe J.S., Cruchaga C., Nowotny P., Morris J.C., Mayo K., Sleegers K., Bettens K., Engelborghs S., De Deyn P.P., Van Broeckhoven C., Livingston G., Bass N.J., Gurling H., McQuillin A., Gwilliam R., Deloukas P., Al-Chalabi A., Shaw C.E., Tsolaki M., Singleton A.B., Guerreiro R., Muhleisen T.W., Nothen M.M., Moebus S., Jockel K.H., Klopp N., Wichmann H.E., Carrasquillo M.M., Pankratz V.S., Younkin S.G., Holmans P.A., O'Donovan M., Owen M.J., Williams J. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat. Genet 2009, 41:1088-1093.
11. Hollingworth P., Harold D., Sims R., Gerrish A., Lambert J.C., Carrasquillo M.M., Abraham R., Hamshere M.L., Pahwa J.S., Moskvina V., Dowzell K., Jones N., Stretton A., Thomas C., Richards A., Ivanov D., Widdowson C., Chapman J., Lovestone S., Powell J., Proitsi P., Lupton M.K., Brayne C., Rubinsztein D.C., Gill M., Lawlor B., Lynch A., Brown K.S., Passmore P.A., Craig D., McGuinness B., Todd S., Holmes C., Mann D., Smith A.D., Beaumont H., Warden D., Wilcock G., Love S., Kehoe P.G., Hooper N.M., Vardy E.R., Hardy J., Mead S., Fox N.C., Rossor M., Collinge J., Maier W., Jessen F., Rüther E., Schürmann B., Heun R., Kölsch H., van den Bussche H., Heuser I., Kornhuber J., Wiltfang J., Dichgans M., Frölich L., Hampel H., Gallacher J., Hüll M., Rujescu D., Giegling I., Goate A.M., Kauwe J.S., Cruchaga C., Nowotny P., Morris J.C., Mayo K., Sleegers K., Bettens K., Engelborghs S., De Deyn P.P., Van Broeckhoven C., Livingston G., Bass N.J., Gurling H., McQuillin A., Gwilliam R., Deloukas P., Al-Chalabi A., Shaw C.E., Tsolaki M., Singleton A.B., Guerreiro R., Mühleisen T.W., Nöthen M.M., Moebus S., Jöckel K.H., Klopp N., Wichmann H.E., Pankratz V.S., Sando S.B., Aasly J.O., Barcikowska M., Wszolek Z.K., Dickson D.W., Graff-Radford N.R., Petersen R.C., van Duijn C.M., Breteler M.M., Ikram M.A., Destefano A.L., Fitzpatrick A.L., Lopez O., Launer L.J., Seshadri S., Berr C., Campion D., Epelbaum J., Dartigues J.F., Tzourio C., Alpérovitch A., Lathrop M., Feulner T.M., Friedrich P., Riehle C., Krawczak M., Schreiber S., Mayhaus M., Nicolhaus S., Wagenpfeil S., Steinberg S., Stefansson H., Stefansson K., Snædal J., Björnsson S., Jonsson P.V., Chouraki V., Genier-Boley B., Hiltunen M., Soininen H., Combarros O., Zelenika D., Delepine M., Bullido M.J., Pasquier F., Mateo I., Frank-Garcia A., Porcellini E., Hanon O., Coto E., Alvarez V., Bosco P., Siciliano G., Mancuso M., Panza F., Solfrizzi V., Nacmias B., Sorbi S., Bossù P., Piccardi P., Arosio B., Annoni G., Seripa D., Pilotto A., Scarpini E., Galimberti D., Brice A., Hannequin D., Licastro F., Jones L., Holmans P.A., Jonsson T., Riemenschneider M., Morgan K., Younkin S.G., Owen M.J., O'Donovan M., Amouyel P., Williams J. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat. Genet. 2011, 43:429-435. Alzheimer's Disease Neuroimaging Initiative, CHARGE ConsortiumCHARGE Consortium, EADI1 consortiumEADI1 consortium.
12. Holtzman D.M., Bales K.R., Tenkova T., Fagan A.M., Parsadanian M., Sartorius L.J., Mackey B., Olney J., McKeel D., Wozniak D., Paul S.M. Apolipoprotein E isoform-dependent amyloid deposition and neuritic degeneration in a mouse model of Alzheimer's disease. Proc. Natl. Acad. Sci. U. S. A 2000, 97:2892-2897.
13. Hughes C.P., Berg L., Danziger W.L., Coben L.A., Martin R.L. A new clinical scale for the staging of dementia. Br. J. Psychiatry 1982, 140:566-572.
14. Jun G., Naj A.C., Beecham G.W., Wang L.S., Buros J., Gallins P.J., Buxbaum J.D., Ertekin-Taner N., Fallin M.D., Friedland R., Inzelberg R., Kramer P., Rogaeva E., St George-Hyslop P., Cantwell L.B., Dombroski B.A., Saykin A.J., Reiman E.M., Bennett D.A., Morris J.C., Lunetta K.L., Martin E.R., Montine T.J., Goate A.M., Blacker D., Tsuang D.W., Beekly D.W., Cupples L.A., Hakonarson H., Kukull W., Foroud T.M., Haines J., Mayeux R., Farrer L.A., Pericak-Vance M.A., Schellenberg G.D. Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. Arch. Neurol 2010, 67:1473-1484.
15. Kamboh M.I., Minster R.L., Demirci F.Y., Ganguli M., Dekosky S.T., Lopez O.L., Barmada M.M. Association of CLU and PICALM variants with Alzheimer's disease. Neurobiol. Aging 2010, doi:S0197-4580(10)00180-6.
16. Lambert J.C., Heath S., Even G., Campion D., Sleegers K., Hiltunen M., Combarros O., Zelenika D., Bullido M.J., Tavernier B., Letenneur L., Bettens K., Berr C., Pasquier F., Fiévet N., Barberger-Gateau P., Engelborghs S., De Deyn P., Mateo I., Franck A., Helisalmi S., Porcellini E., Hanon O., de Pancorbo M.M., Lendon C., Dufouil C., Jaillard C., Leveillard T., Alvarez V., Bosco P., Mancuso M., Panza F., Nacmias B., Bossù P., Piccardi P., Annoni G., Seripa D., Galimberti D., Hannequin D., Licastro F., Soininen H., Ritchie K., Blanche H., Dartigues J.F., Tzourio C., Gut I., Van Broeckhoven C., Alperovitch A., Lathrop M., Amouyel P. Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat. Genet 2009, 41:1094-1099. European Alzheimer's Disease Initiative Investigators.
17. Li Y., Chu L.W., Chen Y.Q., Cheung B.M., Leung R.Y., Yik P.Y., Ng K.M., Mak W., Jin D.Y., St George-Hyslop P., Song Y.Q. Intron 2 (T/C) CYP46 polymorphism is associated with Alzheimer's disease in Chinese patients. Dement. Geriatr. Cogn. Disord 2006, 22:399-404.
18. Li Y., Chu L.W., Li Z., Yik P.Y., Song Y.Q. A study on the association of the chromosome 12p13 locus with sporadic late-onset Alzheimer's disease in Chinese. Dement. Geriatr. Cogn. Disord 2009, 27:508-512.
19. Li Y., Chu L.W., Wang B., Yik P.Y.Huriletemuer, Jin D.Y., Ma X., Song Y.Q. CYP46A1 Functional Promoter Haplotypes Decipher Genetic Susceptibility to Alzheimer's Disease. J. Alzheimers Dis 2010, 21:1311-1323.
20. Mayeux R., Saunders A.M., Shea S., Mirra S., Evans D., Roses A.D., Hyman B.T., Crain B., Tang M.X., Phelps C.H. Utility of the apolipoprotein E genotype in the diagnosis of Alzheimer's disease. Alzheimer's Disease Centers Consortium on Apolipoprotein E and Alzheimer's Disease. N. Engl. J. Med 1998, 338:506-511.
21. McKhann G., Drachman D., Folstein M., Katzman R., Price D., Stadlan E.M. 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.
22. Naj A.C., Jun G., Beecham G.W., Wang L.S., Vardarajan B.N., Buros J., Gallins P.J., Buxbaum J.D., Jarvik G.P., Crane P.K., Larson E.B., Bird T.D., Boeve B.F., Graff-Radford N.R., De Jager P.L., Evans D., Schneider J.A., Carrasquillo M.M., Ertekin-Taner N., Younkin S.G., Cruchaga C., Kauwe J.S., Nowotny P., Kramer P., Hardy J., Huentelman M.J., Myers A.J., Barmada M.M., Demirci F.Y., Baldwin C.T., Green R.C., Rogaeva E., St George-Hyslop P., Arnold S.E., Barber R., Beach T., Bigio E.H., Bowen J.D., Boxer A., Burke J.R., Cairns N.J., Carlson C.S., Carney R.M., Carroll S.L., Chui H.C., Clark D.G., Corneveaux J., Cotman C.W., Cummings J.L., DeCarli C., DeKosky S.T., Diaz-Arrastia R., Dick M., Dickson D.W., Ellis W.G., Faber K.M., Fallon K.B., Farlow M.R., Ferris S., Frosch M.P., Galasko D.R., Ganguli M., Gearing M., Geschwind D.H., Ghetti B., Gilbert J.R., Gilman S., Giordani B., Glass J.D., Growdon J.H., Hamilton R.L., Harrell L.E., Head E., Honig L.S., Hulette C.M., Hyman B.T., Jicha G.A., Jin L.W., Johnson N., Karlawish J., Karydas A., Kaye J.A., Kim R., Koo E.H., Kowall N.W., Lah J.J., Levey A.I., Lieberman A.P., Lopez O.L., Mack W.J., Marson D.C., Martiniuk F., Mash D.C., Masliah E., McCormick W.C., McCurry S.M., McDavid A.N., McKee A.C., Mesulam M., Miller B.L., Miller C.A., Miller J.W., Parisi J.E., Perl D.P., Peskind E., Petersen R.C., Poon W.W., Quinn J.F., Rajbhandary R.A., Raskind M., Reisberg B., Ringman J.M., Roberson E.D., Rosenberg R.N., Sano M., Schneider L.S., Seeley W., Shelanski M.L., Slifer M.A., Smith C.D., Sonnen J.A., Spina S., Stern R.A., Tanzi R.E., Trojanowski J.Q., Troncoso J.C., Van Deerlin V.M., Vinters H.V., Vonsattel J.P., Weintraub S., Welsh-Bohmer K.A., Williamson J., Woltjer R.L., Cantwell L.B., Dombroski B.A., Beekly D., Lunetta K.L., Martin E.R., Kamboh M.I., Saykin A.J., Reiman E.M., Bennett D.A., Morris J.C., Montine T.J., Goate A.M., Blacker D., Tsuang D.W., Hakonarson H., Kukull W.A., Foroud T.M., Haines J.L., Mayeux R., Pericak-Vance M.A., Farrer L.A., Schellenberg G.D. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat. Genet 2011, 43:436-441.
23. Nordstedt C., Caporaso G.L., Thyberg J., Gandy S.E., Greengard P. Identification of the Alzheimer beta/A4 amyloid precursor protein in clathrin-coated vesicles purified from PC12 cells. J. Biol. Chem 1993, 268:608-612.
24. Nuutinen T., Suuronen T., Kauppinen A., Salminen A. Clusterin: a forgotten player in Alzheimer's disease. Brain Res. Rev 2009, 61:89-104.
25. Rogaev E.I., Sherrington R., Rogaeva E.A., Levesque G., Ikeda M., Liang Y., Chi H., Lin C., Holman K., Tsuda T., et al. 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 1995, 376:775-778.
26. Rogers J., Li R., Mastroeni D., Grover A., Leonard B., Ahern G., Cao P., Kolody H., Vedders L., Kolb W.P., Sabbagh M. Peripheral clearance of amyloid beta peptide by complement C3-dependent adherence to erythrocytes. Neurobiol. Aging 2006, 27:1733-1739.
27. Saunders A.M., Strittmatter W.J., Schmechel D., George-Hyslop P.H., Pericak-Vance M.A., Joo S.H., Rosi B.L., Gusella J.F., Crapper-MacLachlan D.R., Alberts M.J., et al. Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease. Neurology 1993, 43:1467-1472.
28. Sherrington R., Rogaev E.I., Liang Y., Rogaeva E.A., Levesque G., Ikeda M., Chi H., Lin C., Li G., Holman K., Tsuda T., Mar L., Foncin J.F., Bruni A.C., Montesi M.P., Sorbi S., Rainero I., Pinessi L., Nee L., Chumakov I., Pollen D., Brookes A., Sanseau P., Polinsky R.J., Wasco W., Da Silva H.A., Haines J.L., Perkicak-Vance M.A., Tanzi R.E., Roses A.D., Fraser P.E., Rommens J.M., St George-Hyslop P.H. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 1995, 375:754-760.
29. Song Y., Wang J. Overview of Chinese research on senile dementia in mainland China. Ageing Res. Rev 2010, 9:S6-S12.
30. Song Y.Q., Rogaeva E., Premkumar S., Brindle N., Kawarai T., Orlacchio A., Yu G., Levesque G., Nishimura M., Ikeda M., Pei Y., O'Toole C., Duara R., Barker W., Sorbi S., Freedman M., Farrer L., St.George-Hyslop P. Absence of association between Alzheimer disease and the -491 regulatory region polymorphism of APOE. Neurosci. Lett 1998, 250:189-192.
31. Trougakos I.P., Gonos E.S. Regulation of clusterin/apolipoprotein J, a functional homologue to the small heat shock proteins, by oxidative stress in ageing and age-related diseases. Free Radic. Res 2006, 40:1324-1334.
32. Zhang Q., Yu J.T., Zhu Q.X., Zhang W., Wu Z.C., Miao D., Tan L. Complement receptor 1 polymorphisms and risk of late-onset Alzheimer's disease. Brain Res 2010, 1348:216-221.