The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease

Journal of Alzheimer's Disease

Volumn 28, Issue 2, 2012, Pages 377-387

  Gerrish, Amy ^a   Russo, Giancarlo ^a   Richards, Alexander ^a   Moskvina, Valentina ^a   Ivanov, Dobril ^a   Harold, Denise ^a   Sims, Rebecca ^a   Abraham, Richard ^a   Hollingworth, Paul ^a   Chapman, Jade ^a   Hamshere, Marian ^a   Pahwa, Jaspreet Singh ^a   Dowzell, Kimberley ^a   Williams, Amy ^a   Jones, Nicola ^a   Thomas, Charlene ^a   Stretton, Alexandra ^a   Morgan, Angharad R ^a   Lovestone, Simon ^b   Powell, John ^b   Proitsi, Petroula ^b   Lupton, Michelle K ^b   Brayne, Carol ^c   Rubinsztein, David C ^d   Gill, Michael ^e   Lawlor, Brian ^e   Lynch, Aoibhinn ^e   Morgan, Kevin ^f   Brown, Kristelle S ^f   Passmore, Peter A ^g   Craig, David ^g   McGuinness, Bernadette ^g   Todd, Stephen ^g   Johnston, Janet A ^h   Holmes, Clive ^h   Mann, David ⁱ   Smith, A David ^j   Love, Seth ^k   Kehoe, Patrick G ^k   Hardy, John ^l   Mead, Simon ^m   Fox, Nick ^m   Rossor, Martin ^m   Collinge, John ^m   Maier, Wolfgang ⁿ   Jessen, Frank ⁿ   Kölsch, Heike ⁿ   Heun, Reinhard ^n,o   Schürmann, Britta ⁿ   Bussche, Hendrik Van Den ^p   Heuser, Isabella ^q   Kornhuber, Johannes ^r   Wiltfang, Jens ^s   Dichgans, Martin ^t   Frölich, Lutz ^u   Hampel, Harald ^v   Hüll, Michael ^t   Rujescu, Dan ^t   Goate, Alison M ^w   Kauwe, John S K ^x   Cruchaga, Carlos ^w   Nowotny, Petra ^w   Morris, John C ^w   Mayo, Kevin ^w   Livingston, Gill ^y   Bass, Nicholas J ^y   Gurling, Hugh ^y   McQuillin, Andrew ^y   Gwilliam, Rhian ^z   Deloukas, Panagiotis ^z   Davies, Gail ^aa   Harris, Sarah E ^aa   Starr, John M ^aa   Deary, Ian J ^aa   Al Chalabi, Ammar ^b   Shaw, Christopher E ^b   Tsolaki, Magda ^ab   Singleton, Andrew B ^ac   Guerreiro, Rita ^ac   Mühleisen, Thomas W ⁿ   Nöthen, Markus M ⁿ   Moebus, Susanne ^ad   Jöckel, Karl Heinz ^ad   Klopp, Norman ^ae   Wichmann, H Erich ^t,ae,af   Carrasquillo, Minerva M ^ag   Pankratz, V Shane ^ah   Younkin, Steven G ^ag   Jones, Lesley ^a   Holmans, Peter A ^a   O'Donovan, Michael C ^a   Owen, Michael J ^a   Williams, Julie ^a   more..

^a CARDIFF UNIVERSITY   (United Kingdom)

^b KING'S COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^e ST JAMES S HOSPITAL   (Ireland)

^f UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^g QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

^h UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

ⁱ UNIVERSITY OF MANCHESTER   (United Kingdom)

^j UNIVERSITY OF OXFORD   (United Kingdom)

^k UNIVERSITY OF BRISTOL   (United Kingdom)

^l UNIVERSITY COLLEGE LONDON   (United Kingdom)

^m UNIVERSITY COLLEGE LONDON   (United Kingdom)

ⁿ UNIVERSITY OF BONN   (Germany)

^o ROYAL DERBY HOSPITAL   (United Kingdom)

^p UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^q CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^r UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^s UNIVERSITY OF DUISBURG ESSEN   (Germany)

^t LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^u UNIVERSITY OF HEIDELBERG   (Germany)

^v GOETHE UNIVERSITY   (Germany)

^w WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^x BRIGHAM YOUNG UNIVERSITY   (United States)

^y UNIVERSITY COLLEGE LONDON   (United Kingdom)

^z WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^aa UNIVERSITY OF EDINBURGH   (United Kingdom)

^ab ARISTOTLE UNIVERSITY OF THESSALONIKI   (Greece)

^ac NATIONAL INSTITUTE ON AGING   (United States)

^ad UNIVERSITY HOSPITAL ESSEN   (Germany)

^ae INSTITUTE OF EPIDEMIOLOGY   (Germany)

^af UNIVERSITY OF MUNICH   (Germany)

^ag MAYO CLINIC   (United States)

^ah MAYO CLINIC   (United States)

more..

Author keywords

Alzheimer's disease; amyloid protein precursor; genetics; human; MAPT protein; PSEN1 protein; PSEN2 protein

Indexed keywords

AMYLOID PRECURSOR PROTEIN; PRESENILIN 1; PRESENILIN 2; TAU PROTEIN;

AGED; ALZHEIMER DISEASE; ARTICLE; CONTROLLED STUDY; CORTICOBASAL DEGENERATION; DISEASE MARKER; FEMALE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOME ANALYSIS; HAPLOTYPE; HUMAN; LATE ONSET ALZHEIMER DISEASE; MAJOR CLINICAL STUDY; MALE; PARKINSON DISEASE; PRIORITY JOURNAL; PROGRESSIVE SUPRANUCLEAR PALSY; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84863081896     PISSN: 13872877     EISSN: 18758908     Source Type: Journal    
DOI: 10.3233/JAD-2011-110824     Document Type: Article

References (46)

1. Dickson TC, VickersJC (2001)The morphological phenotype of beta-amyloid plaques and associated neuritic changes in Alzheimer's disease. Neuroscience 105, 99-107. (Pubitemid 32722097)
2. Ertekin-Taner N (2007) Genetics of Alzheimer's disease: A centennial review. Neurol Clin 25, 611-667. (Pubitemid 47058875)
3. Zetzsche T, Rujescu D, Hardy J, Hampel H (2010) Advances and perspectives from genetic research: Development of biological markersinAlzheimer's disease. Expert Rev Mol Diagn 10, 667-690.
4. Selkoe DJ (2001) Alzheimer's disease: Genes, proteins, and therapy. Physiol Rev 81, 741-766. (Pubitemid 32267077)
5. Houlden H, Baker M, Morris HR, MacDonald N, Pickering-Brown S, Adamson J, Lees AJ, Rossor MN, Quinn NP, Kertesz A, Khan MN, Hardy J, Lantos PL, St George-Hyslop P, Munoz DG, Mann D, Lang AE, Bergeron C, Bigio EH, Litvan I, Bhatia KP, Dickson D, Wood NW, Hutton M (2001) Corticobasal degeneration and progressive supranu-clear palsy share a common tau haplotype. Neurology 56, 1702-1706. (Pubitemid 32574570)
6. Pittman AM, Myers AJ, Abou-Sleiman P, Fung HC, Kaleem M, Marlowe L, Duckworth J, Leung D, Williams D, Kilford L, Thomas N, Morris CM, Dickson D, Wood NW, Hardy J, Lees AJ, de Silva R (2005) Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration. J Med Genet 42, 837-846. (Pubitemid 41598191)
7. Simon-Sanchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D, Paisan-Ruiz C, Lichtner P, Scholz SW, Hernandez DG, Kruger R, Federoff M, Klein C, Goate A, Perlmutter J, Bonin M, Nalls MA, Illig T, Gieger C, Houlden H, Steffens M, Okun MS, Racette BA, Cookson MR, Foote KD, Fernandez HH, Traynor BJ, Schreiber S, Arepalli S, Zonozi R, Gwinn K, van der Brug M, Lopez G, Chanock SJ, Schatzkin A, Park Y, Hollenbeck A, Gao J, Huang X, Wood NW, Lorenz D, Deuschl G, Chen H, Riess O, Hardy JA, Singleton AB, Gasser T (2009) Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet 41, 1308-1312.
8. Zhang N, Yu JT, Yang Y, Yang J, Zhang W, Tan L (2011) Association analysis of GSK3B and MAPT polymorphisms with Alzheimer's disease in Han Chinese. Brain Res 1391, 147-153.
9. Belbin O, Beaumont H, Warden D, Smith AD, Kalsheker N, Morgan K (2009) PSEN1 polymorphisms alter the rate of cognitive decline in sporadic Alzheimer's disease patients. Neurobiol Aging 30, 1992-1999.
10. Feulner TM, Laws SM, Friedrich P, Wagenpfeil S, Wurst SH, Riehle C, Kuhn KA, Krawczak M, Schreiber S, Nikolaus S, Forstl H, Kurz A, Riemenschneider M (2010) Examination of the current top candidate genes for AD in a genome-wide association study. Mol Psychiatry 15, 756-766.
11. Guyant-Marechal L, Rovelet-Lecrux A, Goumidi L, Cousin E, Hannequin D, Raux G, Penet C, Ricard S, Mace S, Amouyel P, Deleuze JF, Frebourg T, Brice A, Lambert JC, Campion D (2007) Variations in the APP gene promoter region and risk of Alzheimer disease. Neurology 68, 684-687. (Pubitemid 46667816)
12. Kwok JB, Loy CT, Hamilton G, Lau E, Hallupp M, Williams J, Owen MJ, Broe GA, Tang N, Lam L, Powell JF, Lovestone S, Schofield PR (2008) Glycogen synthase kinase-3beta and tau genes interact inAlzheimer's disease. Ann Neurol64, 446-454.
13. Laws SM, Friedrich P, Diehl-Schmid J, Muller J, Eisele T, Bauml J, Forstl H, Kurz A, Riemenschneider M (2007) Fine mapping of the MAPT locus using quantitative trait analysis identifies possible causal variants inAlzheimer's disease. Mol Psychiatry 12, 510-517. (Pubitemid 46652455)
14. Liu Z, Jia J (2008) The association of the regulatory region of the presenilin-2 gene with Alzheimer's diseaseinthe Northern Han Chinese population. J Neurol Sci 264, 38-42. (Pubitemid 350184067)
15. Martinez-Garcia A, Aldudo J, Recuero M, Sastre I, Vilella-Cuadrada E, Rosich-Estrago M, Frank A, Valdivieso F, BullidoMJ (2008) Presenilin1polymorphism associated with Alzheimer's disease in apolipoprotein E4 carriers. Dement Geriatr Cogn Disord 26, 440-444.
16. Bullido MJ, Aldudo J, Frank A, Coria F, Avila J, Valdivieso F (2000) A polymorphism in the tau gene associated with risk for Alzheimer's disease. Neurosci Lett 278, 49-52. (Pubitemid 30009894)
17. Myers AJ, Kaleem M, Marlowe L, Pittman AM, Lees AJ, Fung HC, Duckworth J, Leung D, Gibson A, Morris CM, de Silva R, Hardy J (2005) The H1c haplotype at the MAPT locus is associated with Alzheimer's disease. Hum Mol Genet 14, 2399-2404. (Pubitemid 41418001)
18. Seto-Salvia N, Clarimon J, Pagonabarraga J, Pascual-Sedano B, Campolongo A, Combarros O, Mateo JI, Regana D, Martinez-Corral M, Marquie M, Alcolea D, Suarez-Calvet M, Molina-Porcel L, Dols O, Gomez-Isla T, Blesa R, Lleo A, Kulisevsky J (2011) Dementia risk in Parkinson disease: Disentangling the role of MAPT haplotypes. Arch Neurol 68, 359-364.
19. Abraham R, Sims R, Carroll L, Hollingworth P, O'Donovan MC, Williams J, Owen MJ (2009) An association study of common variation at the MAPT locus with late-onset Alzheimer's disease. Am J Med Genet B Neuropsychiatr Genet 150B, 1152-1155.
20. Cousin E, Mace S, Rocher C, Dib C, Muzard G, Hannequin D, Pradier L, Deleuze JF, Genin E, Brice A, Campion D (2011) No replication of genetic association between candidate polymorphisms and Alzheimer's disease. Neurobiol Aging 32, 1443-1451.
21. Mukherjee O, Kauwe JS, Mayo K, Morris JC, Goate AM (2007) Haplotype-based association analysis of the MAPT locus in late onset Alzheimer's disease. BMC Gene 8, 3.
22. Nowotny P, Simcock X, Bertelsen S, Hinrichs AL, Kauwe JS, Mayo K, Smemo S, Morris JC, Goate A (2007) Association studies testing for risk for late-onset Alzheimer's disease with common variants in the beta-amyloid precursor protein (APP). Am J Med Genet B Neuropsychiatr Genet 144B, 469-474. (Pubitemid 46983157)
23. Reiman EM, Webster JA, Myers AJ, Hardy J, Dunckley T, Zismann VL, Joshipura KD, Pearson JV, Hu-Lince D, Huentelman MJ, Craig DW, Coon KD, Liang WS, Herbert RH, Beach T, Rohrer KC, Zhao AS, Leung D, Bryden L, Marlowe L, Kaleem M, Mastroeni D, Grover A, Heward CB, Ravid R, Rogers J, Hutton ML, Melquist S, Petersen RC, Alexander GE, Caselli RJ, Kukull W, Papassotiropoulos A, Stephan DA (2007) GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers. Neuron 54, 713-720. (Pubitemid 46843528)
24. Kwon JM, Nowotny P, Shah PK, Chakraverty S, Norton J, Morris JC, GoateAM (2000)Tau polymorphismsare not associated with Alzheimer's disease. Neurosci Lett 284, 77-80. (Pubitemid 30193203)
25. 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, Schurmann B, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frolich L, Hampel H, Hull 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, Muhleisen TW, Nothen MM, Moebus S, Jockel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin SG, Holmans PA, O'Donovan M, Owen MJ, Williams J (2009) Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nat Genet 41, 1088-1093.
26. McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM (1984) Clinical diagnosis of Alzheimer's dis ease: Report ofthe NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 34, 939-944. (Pubitemid 14076461)
27. Mirra SS, Heyman A, McKeel D, Sumi SM, Crain BJ, Brown-lee LM, Vogel FS, Hughes JP, van Belle G, Berg L (1991) The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part II. Standardization of the neuropathologic assessment of Alzheimer's disease. Neurology 41, 479-486.
28. Wichmann HE, Gieger C, Illig T (2005) KORA-gen-resource for population genetics, controls and a broad spectrum of disease phenotypes. Gesundheitswesen 67 (Suppl 1), S26-S30.
29. Birnbaum S, Ludwig KU, Reutter H, Herms S, Steffens M, Rubini M, Baluardo C, Ferrian M, Almeida deAssis N, Alblas MA, Barth S, Freudenberg J, Lauster C, Schmidt G, Scheer M, Braumann B, Berge SJ, Reich RH, Schiefke F, Hemprich A, Potzsch S, Steegers-Theunissen RP, Potzsch B, Moebus S, Horsthemke B, Kramer FJ, Wienker TF, Mossey PA, Propping P, Cichon S, Hoffmann P, Knapp M, Nothen MM, Mangold E (2009) Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. Nat Genet 41, 473-477.
30. Hillmer AM, Brockschmidt FF, Hanneken S, Eigelshoven S, Steffens M, Flaquer A, Herms S, Becker T, Kortum AK, Nyholt DR, Zhao ZZ, Montgomery GW, Martin NG, Muhleisen TW, Alblas MA, Moebus S, Jockel KH, Brocker-Preuss M, Erbel R, Reinartz R, Betz RC, Cichon S, Propping P, Baur MP, Wienker TF, Kruse R, Nothen MM (2008) Susceptibility variants for male-pattern baldness on chromosome 20p11. Nat Genet 40, 1279-1281.
31. Landers JE, Melki J, Meininger V, Glass JD, van den Berg LH, van Es MA, Sapp PC, van Vught PW, McKenna-Yasek DM, Blauw HM, Cho TJ, Polak M, Shi L, Wills AM, Broom WJ, Ticozzi N, Silani V, Ozoguz A, Rodriguez-Leyva I, Veldink JH, Ivinson AJ, Saris CG, Hosler BA, Barnes-Nessa A, Couture N, Wokke JH, Kwiatkowski TJ Jr, Ophoff RA, Cronin S, Hardiman O, Diekstra FP, Leigh PN, Shaw CE, Simpson CL, Hansen VK, Powell JF, Corcia P, Salachas F, Heath S, Galan P, Georges F, Horvitz HR, Lathrop M, Purcell S, Al-Chalabi A, Brown RH Jr (2009) Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases sur-vivalinsporadic amyotrophic lateral sclerosis.Proc Natl Acad Sci U S A 106, 9004-9009.
32. Craddock N, Hurles ME, Cardin N, Pearson RD, Plagnol V, Robson S, Vukcevic D, Barnes C, Conrad DF, Giannoulatou E, Holmes C, Marchini JL, Stirrups K, Tobin MD, Wain LV, Yau C, Aerts J, Ahmad T, Andrews TD, Arbury H, Attwood A, Auton A, Ball SG, Balmforth AJ, Barrett JC, Barroso I, Barton A, Bennett AJ, Bhaskar S, Blaszczyk K, Bowes J, Brand OJ, Braund PS, Bredin F, Breen G, Brown MJ, Bruce IN, Bull J, Burren OS, Burton J, Byrnes J, Caesar S, Clee CM, Coffey AJ, Connell JM, Cooper JD, Dominiczak AF, Downes K, Drummond HE, Dudakia D, Dunham A, Ebbs B, Eccles D, Edkins S, Edwards C, Elliot A, Emery P, Evans DM, Evans G, Eyre S, Farmer A, Ferrier IN, Feuk L, Fitzgerald T, Flynn E, Forbes A, Forty L, Franklyn JA, Freathy RM, Gibbs P, Gilbert P, Gokumen O, Gordon-Smith K, Gray E, Green E, Groves CJ, Grozeva D, Gwilliam R, Hall A, Hammond N, Hardy M, Harrison P, Hassanali N, Hebaishi H, Hines S, Hinks A, Hitman GA, Hocking L, Howard E, Howard P, Howson JM, Hughes D, Hunt S, Isaacs JD, Jain M, Jewell DP, Johnson T, Jolley JD, Jones IR, Jones LA, Kirov G, Langford CF, Lango-Allen H, Lathrop GM, Lee J, Lee KL, Lees C, Lewis K, Lindgren CM, Maisuria-Armer M, Maller J, Mansfield J, Martin P, Massey DC, McArdle WL, McGuffin P, McLay KE, Mentzer A, Mimmack ML, Morgan AE, Morris AP, Mowat C, Myers S, Newman W, Nimmo ER, O'Donovan MC, Onipinla A, Onyiah I, Ovington NR, Owen MJ, Palin K, Parnell K, Per-net D, Perry JR, Phillips A, Pinto D, Prescott NJ, Prokopenko I, Quail MA, Rafelt S, Rayner NW, Redon R, Reid DM, Renwick, Ring SM, Robertson N, Russell E, St. Clair D, Sam-brook JG, Sanderson JD, Schuilenburg H, Scott CE, Scott R, Seal S, Shaw-Hawkins S, Shields BM, Simmonds MJ, Smyth DJ, Somaskantharajah E, Spanova K, Steer S, Stephens J, Stevens HE, Stone MA, Su Z, Symmons DP, Thompson JR, Thomson W, Travers ME, Turnbull C, Valsesia A, Walker M, Walker NM, Wallace C, Warren-Perry M, Watkins NA, Webster J, Weedon MN, Wilson AG, Woodburn M, Wordsworth BP, Young AH, Zeggini E, Carter NP, Frayling TM, Lee C, McVean G, Munroe PB, Palotie A, Sawcer SJ, Scherer SW, Strachan DP, Tyler-Smith C, Brown MA, Burton PR, Caulfield MJ, Compston A, Farrall M, Gough SC, Hall AS, Hattersley AT, Hill AV, Mathew CG, Pembrey M, Satsangi J, Stratton MR, Worthington J, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand W, Parkes M, Rahman N, Todd JA, Samani NJ, Donnelly P (2010) Genome-wide association study of CNVs in 16, 000 cases of eight common diseases and 3, 000 shared controls. Nature 464, 713-720.
33. Devlin B, Roeder K (1999) Genomic control for association studies. Biometrics 55, 997-1004.
34. Pe'er I, Yelensky R, Altshuler D, Daly MJ (2008) Estimation of the multiple testing burden for genomewide association studies of nearly all common variants. Genet Epidemiol 32, 381-385. (Pubitemid 351656309)
35. Howie BN, Donnelly P, MarchiniJ (2009) Aflexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet 5, e1000529.
36. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38, 904-909. (Pubitemid 44141658)
37. Simes RJ (1986) An improved Bonferroni procedure for multiple tests of significance. Biometrika 73, 751-754.
38. Li Y, Willer CJ, Ding J, Scheet P, Abecasis GR (2010) MaCH: Using sequence and genotype data to estimate hap-lotypes and unobserved genotypes. Genet Epidemiol 34, 816-834.
39. Petersen RC, Aisen PS, Beckett LA, Donohue MC, Gamst AC, Harvey DJ, Jack CR Jr, Jagust WJ, Shaw LM, Toga AW, Trojanowski JQ, Weiner MW (2010) Alzheimer's Disease Neuroimaging Initiative (ADNI): Clinical characterization. Neurology 74, 201-209.
40. Hiltunen M, Helisalmi S, Mannermaa A, Alafuzoff I, Koivisto AM, Lehtovirta M, Pirskanen M, Sulkava R, Verkkoniemi A, Soininen H (2000) Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer's disease family: An Alu core sequence-stimulated recombination? Eur J Hum Genet 8, 259-266. (Pubitemid 30336178)
41. Prihar G, Verkkoniem A, Perez-Tur J, Crook R, Lincoln S, Houlden H, Somer M, Paetau A, Kalimo H, Grover A, Myllykangas L, Hutton M, Hardy J, Haltia M (1999) Alzheimer disease PS-1 exon 9 deletion defined. Nat Me 5, 1090. (Pubitemid 29474400)
42. Neale BM, Sham PC (2004) The future of association studies: Gene-based analysis and replication. Am J Hum Genet 75, 353-362. (Pubitemid 39095812)
43. Moskvina V, Craddock N, Holmans P, Nikolov I, Pahwa JS, Green E, Owen MJ, O'Donovan MC (2009) Gene-wide analyses of genome-wide association data sets: Evidence for multiple common risk alleles for schizophrenia and bipolar disorder and for overlap in genetic risk. Mol Psychiatry 14, 252-260.
44. Lambert JC, Heath S, Even G, Campion D, Sleegers K, Hiltunen M, Combarros O, Zelenika D, Bullido MJ, Tav-ernier B, Letenneur L, Bettens K, Berr C, Pasquier F, Fievet N, Barberger-Gateau P, Engelborghs S, De Deyn P, Mateo I, Franck A, Helisalmi S, Porcellini E, Hanon O, de Pancorbo MM, Lendon C, Dufouil C, Jaillard C, Leveillard T, Alvarez V, Bosco P, Mancuso M, Panza F, Nacmias B, Bossu P, Pic-cardi P, Annoni G, Seripa D, Galimberti D, Hannequin D, Licastro F, Soininen H, Ritchie K, Blanche H, Dartigues JF, Tzourio C, Gut I, Van Broeckhoven C, Alperovitch A, Lathrop M, Amouyel P (2009) Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet 41, 1094-1099.
45. 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, Cum-mings 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, See-ley 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, Kam-boh 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 (2011) Common variants atMS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet 43, 436-441.
46. Seshadri S, Fitzpatrick AL, Ikram MA, DeStefano AL, Gud-nason V, Boada M, Bis JC, Smith AV, Carassquillo 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 (2010) Genome-wide analysis of genetic loci associated with Alzheimer disease. JAMA 303, 1832-1840.