Replication of EPHA1 and CD33 associations with late-onset Alzheimer's disease: a multi-centre case-control study
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- 作者：Minerva M Carrasquillo (1)
Olivia Belbin (1) (12) (2)
Talisha A Hunter (1)
Li Ma (1)
Gina D Bisceglio (1)
Fanggeng Zou (1)
Julia E Crook (3)
V Shane Pankratz (4)
Sigrid B Sando (5) (6)
Jan O Aasly (5) (6)
Maria Barcikowska (7)
Zbigniew K Wszolek (8)
Dennis W Dickson (1)
Neill R Graff-Radford (1) (8)
Ronald C Petersen (10) (9)
Peter Passmore (11)
Kevin Morgan (2)
Steven G Younkin (1) - 刊名：Molecular Neurodegeneration
- 出版年：2011
- 出版时间：December 2011
- 年：2011
- 卷：6
- 期：1
- 全文大小：351KB
- 参考文献：1. Saunders AM, Strittmatter WJ, Schmechel D, George-Hyslop PH, Pericak-Vance MA, Joo SH, Rosi BL, Gusella JF, Crapper-MacLachlan DR, Alberts MJ, Hulette C, Crain B, Goldgaber D, Roses AD: Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease. / Neurology 1993, 43:1467-472.
2. Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Schürmann B, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Fr?lich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, N?then MM, Moebus S, J?ckel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin SG, Holmans PA, O'Donovan M, Owen MJ, Williams J: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. / Nat Genet 2009, 41:1088-093. CrossRef
3. Lambert JC, Heath S, Even G, Campion D, Sleegers K, Hiltunen M, Combarros O, Zelenika D, Bullido MJ, 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, European Alzheimer's Disease Initiative Investigators, de Pancorbo MM, 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, Blanché H, Dartigues JF, Tzourio C, Gut I, Van Broeckhoven C, Alpérovitch A, Lathrop M, Amouyel P: Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. / Nat Genet 2009, 41:1094-099. CrossRef
4. Seshadri S, Fitzpatrick AL, Ikram MA, DeStefano AL, Gudnason V, Boada M, Bis JC, Smith AV, Carrasquillo MM, Lambert JC, Harold D, Schrijvers EM, Ramirez-Lorca R, Debette S, Longstreth WT Jr, Janssens AC, Pankratz VS, Dartigues JF, Hollingworth P, Aspelund T, Hernandez I, Beiser A, Kuller LH, Koudstaal PJ, Dickson DW, Tzourio C, Abraham R, Antunez C, Du Y, Rotter JI, Aulchenko YS, Harris TB, Petersen RC, Berr C, Owen MJ, Lopez-Arrieta J, Varadarajan BN, Becker JT, Rivadeneira F, Nalls MA, Graff-Radford NR, Campion D, Auerbach S, Rice K, Hofman A, Jonsson PV, Schmidt H, Lathrop M, Mosley TH, Au R, Psaty BM, Uitterlinden AG, Farrer LA, Lumley T, Ruiz A, Williams J, Amouyel P, Younkin SG, Wolf PA, Launer LJ, Lopez OL, van Duijn CM, Breteler MM, CHARGE Consortium, GERAD1 Consortium, EADI1 Consortium: Genome-wide analysis of genetic loci associated with Alzheimer disease. / JAMA 2010, 303:1832-840. CrossRef
5. Carrasquillo MM, Belbin O, Hunter TA, Ma L, Bisceglio GD, Zou F, Crook JE, Pankratz VS, Dickson DW, Graff-Radford NR, Petersen RC, Morgan K, Younkin SG: Replication of CLU, CR1, and PICALM associations with alzheimer disease. / Arch Neurol 2010, 67:961-64. CrossRef
6. Zhang Q, Yu JT, Zhu QX, Zhang W, Wu ZC, Miao D, Tan L: Complement receptor 1 polymorphisms and risk of late-onset Alzheimer's disease. / Brain Res 2010, 1348:216-21. CrossRef
7. Corneveaux JJ, Myers AJ, Allen AN, Pruzin JJ, Ramirez M, Engel A, Nalls MA, Chen K, Lee W, Chewning K, Villa SE, Meechoovet HB, Gerber JD, Frost D, Benson HL, O'Reilly S, Chibnik LB, Shulman JM, Singleton AB, Craig DW, Van Keuren-Jensen KR, Dunckley T, Bennett DA, De Jager PL, Heward C, Hardy J, Reiman EM, Huentelman MJ: Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. / Hum Mol Genet 2010, 19:3295-301. CrossRef
8. Kamboh MI, Minster RL, Demirci FY, Ganguli M, Dekosky ST, Lopez OL, Barmada MM: Association of CLU and PICALM variants with Alzheimer's disease. / Neurobiol Aging advance online publication: 4 Jun 2010
9. Yu JT, Li L, Zhu QX, Zhang Q, Zhang W, Wu ZC, Guan J, Tan L: Implication of CLU gene polymorphisms in Chinese patients with Alzheimer's disease. / Clin Chim Acta 2010, 411:1516-519. CrossRef
10. Jun G, Naj AC, Beecham GW, Wang LS, Buros J, Gallins PJ, Buxbaum JD, Ertekin-Taner N, Fallin MD, Friedland R, Inzelberg R, Kramer P, Rogaeva E, St George-Hyslop P, Alzheimer's Disease Genetics Consortium, Cantwell LB, Dombroski BA, Saykin AJ, Reiman EM, Bennett DA, Morris JC, Lunetta KL, Martin ER, Montine TJ, Goate AM, Blacker D, Tsuang DW, Beekly D, Cupples LA, Hakonarson H, Kukull W, Foroud TM, Haines J, Mayeux R, Farrer LA, Pericak-Vance MA, Schellenberg GD: Meta-analysis Confirms CR1, CLU, and PICALM as Alzheimer Disease Risk Loci and Reveals Interactions With APOE Genotypes. / Arch Neurol 2010, 67:1473-484. CrossRef
11. Yu JT, Song JH, Ma T, Zhang W, Yu NN, Xuan SY, Tan L: Genetic association of PICALM polymorphisms with Alzheimer's disease in Han Chinese. / J Neurol Sci 2011, 300:78-0. CrossRef
12. Schjeide BM, Schnack C, Lambert JC, Lill CM, Kirchheiner J, Tumani H, Otto M, Tanzi RE, Lehrach H, Amouyel P, von Arnim CA, Bertram L: The role of clusterin, complement receptor 1, and phosphatidylinositol binding clathrin assembly protein in Alzheimer disease risk and cerebrospinal fluid biomarker levels. / Arch Gen Psychiatry 2011, 68:207-13. CrossRef
13. Brouwers N, Van Cauwenberghe C, Engelborghs S, Lambert JC, Bettens K, Le Bastard N, Pasquier F, Montoya AG, Peeters K, Mattheijssens M, Vandenberghe R, De Deyn PP, Cruts M, Amouyel P, Sleegers K, Van Broeckhoven C: Alzheimer risk associated with a copy number variation in the complement receptor 1 increasing C3b/C4b binding sites. / Mol Psychiatry advance online publication: 15 March 2011
14. Lee JH, Cheng R, Barral S, Reitz C, Medrano M, Lantigua R, Jimenez-Velazquez IZ, Rogaeva E, St George-Hyslop PH, Mayeux R: Identification of Novel Loci for Alzheimer Disease and Replication of CLU and BIN1 in Caribbean Hispanic Individuals. / Arch Neurol 2011, 68:320-28. CrossRef
15. Lambert JC, Zelenika D, Hiltunen M, Chouraki V, Combarros O, Bullido MJ, Tognoni G, Fiévet N, Boland A, Arosio B, Coto E, Del Zompo M, Mateo I, Frank-Garcia A, Helisalmi S, Porcellini E, Pilotto A, Forti P, Ferri R, Delepine M, Scarpini E, Siciliano G, Solfrizzi V, Sorbi S, Spalletta G, Ravaglia G, Valdivieso F, Alvarez V, Bosco P, Mancuso M, Panza F, Nacmias B, Bossù P, Piccardi P, Annoni G, Seripa D, Galimberti D, Licastro F, Lathrop M, Soininen H, Amouyel P: Evidence of the association of BIN1 and PICALM with the AD risk in contrasting European populations. / Neurobiol Aging 2011, (32):756.e11-56.e15.
16. Wijsman EM, Pankratz ND, Choi Y, Rothstein JH, Faber KM, Cheng R, Lee JH, Bird TD, Bennett DA, Diaz-Arrastia R, Goate AM, Farlow M, Ghetti B, Sweet RA, Foroud TM, Mayeux R, NIA-LOAD/NCRAD Family Study Group: Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE. / PLoS Genet 2011, 7:e1001308. CrossRef
17. Naj AC, Jun G, Beecham GW, Wang LS, Vardarajan BN, Buros J, Gallins PJ, Buxbaum JD, Jarvik GP, Crane PK, Larson EB, Bird TD, Boeve BF, Graff-Radford NR, De Jager PL, Evans D, Schneider JA, Carrasquillo MM, Ertekin-Taner N, Younkin SG, Cruchaga C, Kauwe JS, Nowotny P, Kramer P, Hardy J, Huentelman MJ, Myers AJ, Barmada MM, Demirci FY, Baldwin CT, Green RC, Rogaeva E, St George-Hyslop P, Arnold SE, Barber R, Beach T, Bigio EH, Bowen JD, Boxer A, Burke JR, Cairns NJ, Carlson CS, Carney RM, Carroll SL, Chui HC, Clark DG, Corneveaux J, Cotman CW, Cummings JL, DeCarli C, DeKosky ST, Diaz-Arrastia R, Dick M, Dickson DW, Ellis WG, Faber KM, Fallon KB, Farlow MR, Ferris S, Frosch MP, Galasko DR, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Gilman S, Giordani B, Glass JD, Growdon JH, Hamilton RL, Harrell LE, Head E, Honig LS, Hulette CM, Hyman BT, Jicha GA, Jin LW, Johnson N, Karlawish J, Karydas A, Kaye JA, Kim R, Koo EH, Kowall NW, Lah JJ, Levey AI, Lieberman AP, Lopez OL, Mack WJ, Marson DC, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Parisi JE, Perl DP, Peskind E, Petersen RC, Poon WW, Quinn JF, Rajbhandary RA, Raskind M, Reisberg B, Ringman JM, Roberson ED, Rosenberg RN, Sano M, Schneider LS, Seeley W, Shelanski ML, Slifer MA, Smith CD, Sonnen JA, Spina S, Stern RA, Tanzi RE, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Williamson J, Woltjer RL, Cantwell LB, Dombroski BA, Beekly D, Lunetta KL, Martin ER, Kamboh MI, Saykin AJ, Reiman EM, Bennett DA, Morris JC, Montine TJ, Goate AM, Blacker D, Tsuang DW, Hakonarson H, Kukull WA, Foroud TM, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD: Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. / Nat Genet 2011, 43:436-41. CrossRef
18. Carrasquillo MM, Belbin O, Hunter TA, Ma L, Bisceglio GD, Zou F, Crook JE, Pankratz VS, Sando SB, Aasly JO, Barcikowska M, Wszolek ZK, Dickson DW, Graff-Radford NR, Petersen RC, Morgan K, Younkin SG: Replication of BIN1 Association with Alzheimer's Disease and Evaluation of Genetic Interactions. / J Alzheimers Dis advance online publication: 14 Feb 2011
19. Hu X, Pickering E, Liu YC, Hall S, Fournier H, Katz E, Dechairo B, John S, Van Eerdewegh P, Soares H: 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. CrossRef
20. Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM, Abraham R, Hamshere ML, Pahwa JS, 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 MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Beaumont H, Warden D, Wilcock G, Love S, Kehoe PG, Hooper NM, Vardy ER, Hardy J, Mead S, Fox NC, Rossor M, Collinge J, Maier W, Jessen F, Rüther E, Schürmann B, Heun R, K?lsch H, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Fr?lich L, Hampel H, Gallacher J, Hüll M, Rujescu D, Giegling I, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, N?then MM, Moebus S, J?ckel KH, Klopp N, Wichmann HE, Pankratz VS, Sando SB, Aasly JO, Barcikowska M, Wszolek ZK, Dickson DW, Graff-Radford NR, Petersen RC, Alzheimer's Disease Neuroimaging Initiative, van Duijn CM, Breteler MM, Ikram MA, DeStefano AL, Fitzpatrick AL, Lopez O, Launer LJ, Seshadri S, CHARGE consortium, Berr C, Campion D, Epelbaum J, Dartigues JF, Tzourio C, Alpérovitch A, Lathrop M, EADI1 consortium, Feulner TM, Friedrich P, Riehle C, Krawczak M, Schreiber S, Mayhaus M, Nicolhaus S, Wagenpfeil S, Steinberg S, Stefansson H, Stefansson K, Snaedal J, Bj?rnsson S, Jonsson PV, Chouraki V, Genier-Boley B, Hiltunen M, Soininen H, Combarros O, Zelenika D, Delepine M, Bullido MJ, 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 PA, Jonsson T, Riemenschneider M, Morgan K, Younkin SG, Owen MJ, 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, 43:429-35. CrossRef
21. Belbin O, Carrasquillo MM, Crump M, Culley OJ, Hunter TA, Ma L, Bisceglio G, Zou F, Allen M, Dickson DW, Graff-Radford NR, Petersen RC, Morgan K, Younkin SG: Investigation of 15 of the top candidate genes for late-onset Alzheimer's disease. / Hum Genet 2011, 129:273-82. CrossRef
22. Sando SB, Melquist S, Cannon A, Hutton ML, Sletvold O, Saltvedt I, White LR, Lydersen S, Aasly JO: APOE epsilon 4 lowers age at onset and is a high risk factor for Alzheimer's disease; a case control study from central Norway. / BMC Neurol 2008, 8:9. CrossRef
23. Klimkowicz-Mrowiec A, Marona M, Wolkow P, Maruszak A, Styczynska M, Barcikowska M, Zekanowski C, Szczudlik A, Slowik A: Interleukin-1 gene -511 CT polymorphism and the risk of Alzheimer's disease in a Polish population. / Dement Geriatr Cogn Disord 2009, 28:461-64. CrossRef
24. DerSimonian R, Laird N: Meta-analysis in clinical trials. / Control Clin Trials 1986, 7:177-88. CrossRef
25. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC: PLINK: a tool set for whole-genome association and population-based linkage analyses. / Am J Hum Genet 2007, 81:559-75. CrossRef - 作者单位：Minerva M Carrasquillo (1)
Olivia Belbin (1) (12) (2)
Talisha A Hunter (1)
Li Ma (1)
Gina D Bisceglio (1)
Fanggeng Zou (1)
Julia E Crook (3)
V Shane Pankratz (4)
Sigrid B Sando (5) (6)
Jan O Aasly (5) (6)
Maria Barcikowska (7)
Zbigniew K Wszolek (8)
Dennis W Dickson (1)
Neill R Graff-Radford (1) (8)
Ronald C Petersen (10) (9)
Peter Passmore (11)
Kevin Morgan (2)
Steven G Younkin (1)
1. Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, FL, 32224, USA
12. OB is now affiliated to Hospital de la Santa Creu i Sant Pau, 08025, Barcelona, Spain
2. School of Molecular Medical Sciences, Institute of Genetics, Queens’s Medical Centre, University of Nottingham, Nottingham, NG7 2UH, UK
3. Biostatistics Unit, Mayo Clinic College of Medicine, Jacksonville, FL, 32224, USA
4. Division of Biomedical Statistics and Informatics, Mayo Clinic College of Medicine, Rochester, MN, 55905, USA
5. Department of Neurology, St. Olav’s Hospital, Edvard Griegs Gate 8, 7006, Trondheim, Norway
6. Department of Neuroscience, Norwegian University of Science and Technology, NTNU, 7491, Trondheim, Norway
7. Department of Neurodegenerative Disorders, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland
8. Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, FL, 32224, USA
10. Mayo Alzheimer Disease Research Center, Mayo Clinic College of Medicine, Rochester, MN, 55905, USA
9. Department of Neurology, Mayo Clinic College of Medicine, Rochester, MN, 55905, USA
11. Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences, Queen’s University Belfast, Northern Ireland, BT7 1NN, UK
文摘
Background A recently published genome-wide association study (GWAS) of late-onset Alzheimer's disease (LOAD) revealed genome-wide significant association of variants in or near MS4A4A, CD2AP, EPHA1 and CD33. Meta-analyses of this and a previously published GWAS revealed significant association at ABCA7 and MS4A, independent evidence for association of CD2AP, CD33 and EPHA1 and an opposing yet significant association of a variant near ARID5B. In this study, we genotyped five variants (in or near CD2AP, EPHA1, ARID5B, and CD33) in a large (2,634 LOAD, 4,201 controls), independent dataset comprising six case-control series from the USA and Europe. We performed meta-analyses of the association of these variants with LOAD and tested for association using logistic regression adjusted by age-at-diagnosis, gender, and APOE ε4 dosage. Results We found no significant evidence of series heterogeneity. Associations with LOAD were successfully replicated for EPHA1 (rs11767557; OR = 0.87, p = 5 × 10-4) and CD33 (rs3865444; OR = 0.92, p = 0.049), with odds ratios comparable to those previously reported. Although the two ARID5B variants (rs2588969 and rs494288) showed significant association with LOAD in meta-analysis of our dataset (p = 0.046 and 0.008, respectively), the associations did not survive adjustment for covariates (p = 0.30 and 0.11, respectively). We had insufficient evidence in our data to support the association of the CD2AP variant (rs9349407, p = 0.56). Conclusions Our data overwhelmingly support the association of EPHA1 and CD33 variants with LOAD risk: addition of our data to the results previously reported (total n > 42,000) increased the strength of evidence for these variants, providing impressive p-values of 2.1 × 10-15 (EPHA1) and 1.8 × 10-13 (CD33).