CoChat
Sign Up
Cited by 48Alzheimer's disease research and treatmentsDementia and Cognitive Impairment ResearchGenetic Associations and Epidemiology

Initial Assessment of the Pathogenic Mechanisms of the Recently Identified Alzheimer Risk Loci

Open access
Holton, Patrick, Ryten, Mina, Nalls, Michael, Trabzuni, Daniah, Weale, Michael E., Hernandez, Dena, Crehan, Helen, Gibbs, J. Raphael +17 more·2013·Annals of Human Genetics
DOI 10.1111/ahg.12000PMC PMC3578142
Open this paper in CoChat — free account

Abstract

Summary: Recent genome wide association studies have identified CLU, CR1, ABCA7 BIN1, PICALM and MS4A6A/MS4A6E in addition to the long established APOE, as loci for Alzheimer's disease. We have systematically examined each of these loci to assess whether common coding variability contributes to the risk of disease. We have also assessed the regional expression of all the genes in the brain and whether there is evidence of an eQTL explaining the risk. In agreement with other studies we find that coding variability may explain the ABCA7 association, but common coding variability does not explain any of the other loci. We were not able to show that any of the loci had eQTLs within the power of this study. Furthermore the regional expression of each of the loci did not match the pattern of brain regional distribution in Alzheimer pathology. Although these results are mainly negative, they allow us to start defining more realistic alternative approaches to determine the role of all the genetic loci involved in Alzheimer's disease.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1111/ahg.12000

Cites

10 of 10 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Cites

Flagged first, then by citations

Research works printed but not linked: 58

  1. Barrett JC Clayton DG Concannon P Akolkar B Cooper JD Erlich HA Julier C Morahan G Nerup J Nierras C Plagnol V Pociot F Schuilenburg H Smyth DJ Stevens H Todd JA Walker NM Rich SS Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes Nat Genet 2009 41 703 707 19430480 PMC2889014
  2. Barrett JC Hansoul S Nicolae DL Cho JH Duerr RH Rioux JD Brant SR Silverberg MS Taylor KD Barmada MM Bitton A Dassopoulos T Datta LW Green T Griffiths AM Kistner EO Murtha MT Regueiro MD Rotter JI Schumm LP Steinhart AH Targan SR Xavier RJ Libioulle C Sandor C Lathrop M Belaiche J Dewit O Gut I Heath S Laukens D Mni M Rutgeerts P van Gossum A Zelenika D Franchimont D Hugot JP de Vos M Vermeire S Louis E Cardon LR Anderson CA Drummond H Nimmo E Ahmad T Prescott NJ Onnie CM Fisher SA Marchini J Ghori J Bumpstead S Gwilliam R Tremelling M Deloukas P Mansfield J Jewell D Satsangi J Mathew CG Parkes M Georges M Daly MJ Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease Nat Genet 2008 40 955 962 18587394 PMC2574810
  3. Beach TG Sue LI Walker DG Roher AE Lue L Vedders L Connor DJ Sabbagh MN Rogers J The Sun Health Research Institute Brain Donation Program: description and experience, 1987–2007 Cell Tissue Bank 2008 9 229 245 18347928 PMC2493521
  4. Bettens K Brouwers N Engelborghs S Lambert JC Rogaeva E Vandenberghe R Le Bastard N Pasquier F Vermeulen S van Dongen J Mattheijssens M Peeters K Mayeux R St George-Hyslop P Amouyel P de Deyn PP Sleegers K van Broeckhoven C Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk Mol Neurodegener 2012 7 3 22248099 PMC3296573
  5. Bodovitz S Klein WL Cholesterol modulates alpha-secretase cleavage of amyloid precursor protein J Biol Chem 1996 271 4436 4440 8626795
  6. Braskie MN Jahanshad N Stein JL Barysheva M Mcmahon KL de Zubicaray GI Martin NG Wright MJ Ringman JM Toga AW Thompson PM Common Alzheimer's disease risk variant within the CLU gene affects white matter microstructure in young adults The Journal of neuroscience: the official journal of the Society for Neuroscience 2011 31 6764 6770 21543606 PMC3176803
  7. Chan SL Kim WS Kwok JB Hill AF Cappai R Rye KA Garner B ATP-binding cassette transporter A7 regulates processing of amyloid precursor protein in vitro J Neurochem 2008 106 793 804 18429932
  8. Chibnik LB Shulman JM Leurgans SE Schneider JA Wilson RS Tran D Aubin C Buchman AS Heward CB Myers AJ Hardy JA Huentelman MJ Corneveaux JJ Reiman EM Evans DA Bennett DA de Jager PL CR1 is associated with amyloid plaque burden and age-related cognitive decline Ann Neurol 2011 69 560 569 21391232 PMC3066288
  9. de Silva HV Harmony JA Stuart WD Gil CM Robbins J Apolipoprotein J: structure and tissue distribution Biochemistry 1990 29 5380 5389 1974459
  10. Di Paolo G Sankaranarayanan S Wenk MR Daniell L Perucco E Caldarone BJ Flavell R Picciotto MR Ryan TA Cremona O de Camilli P Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice Neuron 2002 33 789 804 11879655
  11. Dideberg V Kristjansdottir G Milani L Libioulle C Sigurdsson S Louis E Wiman AC Vermeire S Rutgeerts P Belaiche J Franchimont D van Gossum A Bours V Syvanen AC An insertion-deletion polymorphism in the interferon regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases Hum Mol Genet 2007 16 3008 3016 17881657
  12. Dreyling MH Martinez-Climent JA Zheng M Mao J Rowley JD Bohlander SK The t(10;11)(p13;q14) in the U937 cell line results in the fusion of the AF10 gene and CALM, encoding a new member of the AP-3 clathrin assembly protein family Proc Natl Acad Sci U S A 1996 93 4804 4809 8643484 PMC39360
  13. Fugier C Klein AF Hammer C Vassilopoulos S Ivarsson Y Toussaint A Tosch V Vignaud A Ferry A Messaddeq N Kokunai Y Tsuburaya R de La Grange P Dembele D Francois V Precigout G Boulade-Ladame C Hummel MC de Munain AL Sergeant N Laquerriere A Thibault C Deryckere F Auboeuf D Garcia L Zimmermann P Udd B Schoser B Takahashi MP Nishino I Bassez G Laporte J Furling D Charlet-Berguerand N Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy Nat Med 2011 17 720 725 21623381
  14. Graham RR Kozyrev SV Baechler EC Reddy MV Plenge RM Bauer JW Ortmann WA Koeuth T Gonzalez Escribano MF Pons-Estel B Petri M Daly M Gregersen PK Martin J Altshuler D Behrens TW Alarcon-Riquelme ME A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus Nat Genet 2006 38 550 555 16642019
  15. Graham RR Kyogoku C Sigurdsson S Vlasova IA Davies LR Baechler EC Plenge RM Koeuth T Ortmann WA Hom G Bauer JW Gillett C Burtt N Cunninghame Graham DS Onofrio R Petri M Gunnarsson I Svenungsson E Ronnblom L Nordmark G Gregersen PK Moser K Gaffney PM Criswell LA Vyse TJ Syvanen AC Bohjanen PR Daly MJ Behrens TW Altshuler D Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus Proc Natl Acad Sci U S A 2007 104 6758 6763 17412832 PMC1847749
  16. Guerreiro RJ Beck J Gibbs JR Santana I Rossor MN Schott JM Nalls MA Ribeiro H Santiago B Fox NC Oliveira C Collinge J Mead S Singleton A Hardy J Genetic variability in CLU and its association with Alzheimer's disease PLoS One 2010 5 e9510 20209083 PMC2831070
  17. Guerreiro RJ Hardy J Alzheimer's disease genetics: lessons to improve disease modelling Biochem Soc Trans 2011 39 910 916 21787322
  18. Hardy J Singleton A Genomewide association studies and human disease N Engl J Med 2009 360 1759 1768 19369657 PMC3422859
  19. Harel A Wu F Mattson MP Morris CM Yao PJ Evidence for CALM in directing VAMP2 trafficking Traffic 2008 9 417 429 18182011
  20. Hernandez DG Nalls MA Gibbs JR Arepalli S van der Brug M Chong S Moore M Longo DL Cookson MR Traynor BJ Singleton AB Distinct DNA methylation changes highly correlated with chronological age in the human brain Hum Mol Genet 2011 20 1164 1172 21216877 PMC3043665
  21. Hindorff LA Sethupathy P Junkins HA Ramos EM Mehta JP Collins FS Manolio TA Potential etiologic and functional implications of genome-wide association loci for human diseases and traits Proc Natl Acad Sci U S A 2009 106 9362 9367 19474294 PMC2687147
  22. Holers VM Chaplin DD Leykam JF Gruner BA Kumar V Atkinson JP Human complement C3b/C4b receptor (CR1) mRNA polymorphism that correlates with the CR1 allelic molecular weight polymorphism Proc Natl Acad Sci U S A 1987 84 2459 2463 3031685 PMC304671
  23. 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 Ruther E Schurmann B Heun R Kolsch H van den Bussche H Heuser I Kornhuber J Wiltfang J Dichgans M Frolich L Hampel H Gallacher J Hull 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 Muhleisen TW Nothen MM Moebus S Jockel KH Klopp N Wichmann HE Pankratz VS Sando SB Aasly JO Barcikowska M Wszolek ZK Dickson DW Graff-Radford NR Petersen RC van Duijn CM Breteler MM Ikram MA DeStefano AL Fitzpatrick AL Lopez O Launer LJ Seshadri S Berr C Campion D Epelbaum J Dartigues JF Tzourio C Alpérovitch A Lathrop M Feulner TM Friedrich P Riehle C Krawczak M Schreiber S Mayhaus M Nicolhaus S Wagenpfeil S Steinberg S Stefansson H Stefansson K Snaedal J Björnsson 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 Alzheimer's Disease Neuroimaging Initiative CHARGE consortium EADI1 consortium Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease Nat Genet 2011 43 429 435 21460840 PMC3084173
  24. 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 21390209 PMC3044719
  25. Hua X Leow AD Parikshak N Lee S Chiang MC Toga AW Jack CR Jr Weiner MW Thompson PM Tensor-based morphometry as a neuroimaging biomarker for Alzheimer's disease: an MRI study of 676 AD, MCI, and normal subjects NeuroImage 2008 43 458 469 18691658 PMC3197851
  26. Irizarry RA Hobbs B Collin F Beazer-Barclay YD Antonellis KJ Scherf U Speed TP Exploration, normalization, and summaries of high density oligonucleotide array probe level data Biostatistics 2003 4 249 264 12925520
  27. Kalvodova L Kahya N Schwille P Ehehalt R Verkade P Drechsel D Simons K Lipids as modulators of proteolytic activity of BACE: involvement of cholesterol, glycosphingolipids, and anionic phospholipids in vitro J Biol Chem 2005 280 36815 36823 16115865
  28. Kim WS Fitzgerald ML Kang K Okuhira K Bell SA Manning JJ Koehn SL Lu N Moore KJ Freeman MW Abca7 null mice retain normal macrophage phosphatidylcholine and cholesterol efflux activity despite alterations in adipose mass and serum cholesterol levels J Biol Chem 2005 280 3989 3995 15550377
  29. Kim WS Weickert CS Garner B Role of ATP-binding cassette transporters in brain lipid transport and neurological disease J Neurochem 2008 104 1145 1166 17973979
  30. Klickstein LB Bartow TJ Miletic V Rabson LD Smith JA Fearon DT Identification of distinct C3b and C4b recognition sites in the human C3b/C4b receptor (CR1, CD35) by deletion mutagenesis J Exp Med 1988 168 1699 1717 2972794 PMC2189104
  31. Kusuhara H Sugiyama Y ATP-binding cassette, subfamily G (ABCG family) Pflugers Arch 2007 453 735 744 16983557
  32. 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 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 Piccardi 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 Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease Nat Genet 2009 41 1094 1099 19734903
  33. Liang Y Buckley TR Tu L Langdon SD Tedder TF Structural organization of the human MS4A gene cluster on Chromosome 11q12 Immunogenetics 2001 53 357 368 11486273
  34. Liang Y Tedder TF Identification of a CD20-, FcepsilonRIbeta-, and HTm4-related gene family: sixteen new MS4A family members expressed in human and mouse Genomics 2001 72 119 127 11401424
  35. Manolio TA Genomewide association studies and assessment of the risk of disease N Engl J Med 2010 363 166 176 20647212
  36. Millar T Walker R Arango JC Ironside JW Harrison DJ Macintyre DJ Blackwood D Smith C Bell JE Tissue and organ donation for research in forensic pathology: the MRC Sudden Death Brain and Tissue Bank J Pathol 2007 213 369 375 17990279
  37. Moffatt MF Kabesch M Liang L Dixon AL Strachan D Heath S Depner M von Berg A Bufe A Rietschel E Heinzmann A Simma B Frischer T Willis-Owen SA Wong KC Illig T Vogelberg C Weiland SK von Mutius E Abecasis GR Farrall M Gut IG Lathrop GM Cookson WO Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma Nature 2007 448 470 473 17611496
  38. Nordstedt C Caporaso GL Thyberg J Gandy SE 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 8416966
  39. Oda T Pasinetti GM Osterburg HH Anderson C Johnson SA Finch CE Purification and characterization of brain clusterin Biochem Biophys Res Commun 1994 204 1131 1136 7980587
  40. Olgiati P Politis AM Papadimitriou GN de Ronchi D Serretti A Genetics of late-onset Alzheimer's disease: update from the alzgene database and analysis of shared pathways International journal of Alzheimer's disease 2011 2011 832379. PMC3235576 22191060
  41. Pant S Sharma M Patel K Caplan S Carr CM Grant BD AMPH-1/Amphiphysin/Bin1 functions with RME-1/Ehd1 in endocytic recycling Nat Cell Biol 2009 11 1399 1410 19915558 PMC2788952
  42. Schmitz G Kaminski WE ABC transporters and cholesterol metabolism Front Biosci 2001 6 D505 D514 11229879
  43. Schmitz G Kaminski WE Orso E ABC transporters in cellular lipid trafficking Curr Opin Lipidol 2000 11 493 501 11048892
  44. Schrijvers EM Koudstaal PJ Hofman A Breteler MM Plasma clusterin and the risk of Alzheimer disease JAMA: the journal of the American Medical Association 2011 305 1322 1326 21467285
  45. Seshadri S Fitzpatrick AL Ikram MA Destefano AL Gudnason 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 Genome-wide analysis of genetic loci associated with Alzheimer disease Jama 2010 303 1832 1840 20460622 PMC2989531
  46. Sigurdsson S Nordmark G Goring HH Lindroos K Wiman AC Sturfelt G Jonsen A Rantapaa-Dahlqvist S Moller B Kere J Koskenmies S Widen E Eloranta ML Julkunen H Kristjansdottir H Steinsson K Alm G Ronnblom L Syvanen AC Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus Am J Hum Genet 2005 76 528 537 15657875 PMC1196404
  47. Stahl EA Raychaudhuri S Remmers EF Xie G Eyre S Thomson BP Li Y Kurreeman FA Zhernakova A Hinks A Guiducci C Chen R Alfredsson L Amos CI Ardlie KG Barton A Bowes J Brouwer E Burtt NP Catanese JJ Coblyn J Coenen MJ Costenbader KH Criswell LA Crusius JB Cui J de Bakker PI de Jager PL Ding B Emery P Flynn E Harrison P Hocking LJ Huizinga TW Kastner DL Ke X Lee AT Liu X Martin P Morgan AW Padyukov L Posthumus MD Radstake TR Reid DM Seielstad M Seldin MF Shadick NA Steer S Tak PP Thomson W van der Helm-Van Mil AH van der Horst-Bruinsma IE van der Schoot CE van Riel PL Weinblatt ME Wilson AG Wolbink GJ Wordsworth BP Wijmenga C Karlson EW Toes RE de Vries N Begovich AB Worthington J Siminovitch KA Gregersen PK Klareskog L Plenge RM Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci Nat Genet 2010 42 508 514 20453842 PMC4243840
  48. Stranger BE Stahl EA Raj T Progress and promise of genome-wide association studies for human complex trait genetics Genetics 2011 187 367 383 21115973 PMC3030483
  49. Szymanski M Wang R Bassett SS Avramopoulos D Alzheimer's risk variants in the Clusterin gene are associated with alternative splicing Transl Psychiatry 2011 1 PMC3165035 21892414
  50. Tebar F Bohlander SK Sorkin A 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 1999 10 2687 2702 10436022 PMC25500
  51. Tun H Marlow L Pinnix I Kinsey R Sambamurti K Lipid rafts play an important role in A beta biogenesis by regulating the beta-secretase pathway J Mol Neurosci 2002 19 31 35 12212790
  52. Vetrivel KS Cheng H Kim SH Chen Y Barnes NY Parent AT Sisodia SS Thinakaran G Spatial segregation of gamma-secretase and substrates in distinct membrane domains J Biol Chem 2005 280 25892 25900 15886206 PMC1201532
  53. Wigge P Mcmahon HT The amphiphysin family of proteins and their role in endocytosis at the synapse Trends Neurosci 1998 21 339 344 9720601
  54. Wong WW Structural and functional correlation of the human complement receptor type 1 J Invest Dermatol 1990 94 64S 67S 2141049
  55. Xing YY Yu JT Cui WZ Zhong XL Wu ZC Zhang Q Tan L Blood Clusterin Levels, rs9331888 Polymorphism, and the Risk of Alzheimer's Disease J Alzheimers Dis 2012 22258514
  56. Yao PJ Petralia RS Bushlin I Wang Y Furukawa K Synaptic distribution of the endocytic accessory proteins AP180 and CALM J Comp Neurol 2005 481 58 69 15558718
  57. Zlokovic BV Cerebrovascular transport of Alzheimer's amyloid beta and apolipoproteins J and E: possible anti-amyloidogenic role of the blood-brain barrier Life Sci 1996 59 1483 1497 8890929
  58. Zuccolo J Bau J Childs SJ Goss GG Sensen CW Deans JP Phylogenetic analysis of the MS4A and TMEM176 gene families PLoS One 2010 5 e9369 20186339 PMC2826416

Cited by

Sorted by citations

Authors
Holton, P., Ryten, M., Nalls, M., Trabzuni, D., Weale, M. E., Hernandez, D., Crehan, H., Gibbs, J. R., Mayeux, R., Haines, J. L., Farrer, L. A., Pericak‐Vance, M. A., Schellenberg, G. D., The Alzheimer's Disease Genetics Consortium, Ramirez‐Restrepo, M., Engel, A., Myers, A. J., Corneveaux, J. J., Huentelman, M. J., Dillman, A., Cookson, M. R., Reiman, E. M., Singleton, A., Hardy, J., & Guerreiro, R.
Affiliations
  • UCL Queen Square Institute of Neurology (GB)
  • Laboratory of Neurogenetics National Institute on Aging National Institutes of Health Bethesda MD
  • King Faisal Specialist Hospital & Research Centre (SA)
  • Guy's Hospital (GB)
  • National Institutes of Health (US)
  • Columbia University (US)
  • Vanderbilt University (US)
  • Boston University (US)
  • University of Miami (US)
  • University of Pennsylvania (US)
  • Translational Genomics Research Institute (US)
Corresponding author
Hardy, John
ORCID
Venue
Annals of Human Genetics
Publisher
Wiley
Published
2013-01-30
Volume
77
Issue
2
Pages
85-105
ISSN
  • 0003-4800 (ISSN-L)
  • 1469-1809
DOI
10.1111/ahg.12000
PMC
PMC3578142
OpenAlex
W1943789301
Cited by
48
References
10
Citations by year
2024: 3 · 2023: 3 · 2022: 1 · 2021: 1 · 2019: 3 · 2018: 3 · 2017: 6 · 2016: 7 · 2015: 9 · 2014: 7 · 2013: 5
FWCI
6.50
Type
journal article
Language
en
Open access
Licence
onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations
  • Annals of Human Genetics (publishedVersion)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
  • UCL Discovery (University College London) (submittedVersion)
  • Research Portal (King's College London) (submittedVersion)
Funders
  • Howard Hughes Medical Institute
  • Eli Lilly and Company
  • Merck
  • F. Hoffmann-La Roche
  • Medpace
  • Wellcome Trust (100140, 089703, 081864)
  • National Institutes of Health (5r01ag027944-05, 5u01ag024904-10, 7r01ag019757-06, 5r37ag015473-15)
  • Canadian Institutes of Health Research
  • Medical Research Council (MR/J006742/1)
  • National Institute on Aging (U01-AG-024904, R01AG017917, P01AG010491, P50 AG016575, P30-AG 10161, P30-AG-19610, AG05 128, P30AG010129, P30AG010133, ZIAAG000950, R01AG019085, P30 AG 08051, P50AG005144, U01‐AG10483, R01AG33193, P50 AG016576, R01AG030146, AG021547, R01 AG30146, AG010491, R01‐AG17917, AG-05144, U24 AG026390, P30AG028383, R01 AG15819, P30AG012300, AG 025688, P50AG016577, U01-AG-06781, P50AG005133, R01-AG027944, P30AG028377, U01AG006781, U01AG016976, P50AG005131, R01-AG019757, K23AG034550, R01AG034504, R37-AG015473, P50AG005138, R01AG026390, P50AG016570, K01AG030514, R01AG040770, P50AG005128, P30AG010124, P50AG016573, AG019757, R01AG021547, R01AG041232, R01AG030653, U01AG010483, R01AG015819, P30AG008017, P30AG010161, U01AG032984, R01AG031581, P30AG008051, R01AG041797, P50AG016582, P50AG008702, Z01AG000950, P50AG005681, P50AG005142, P50AG008671, P30AG019610, R01AG026916, P50AG005146, P01 AG0 3991, P01AG003991, U24AG026395, P30AG013846, P50AG005136, P50AG005134, RC2AG036535, P30AG013854, R01AG025259, P50AG025688, P50 AG08671, R01AG017173, RC2AG036528, R01AG033193, P01AG002219, P30 AG-10133, U24AG056270, P01AG019724, U24AG021886, P30AG062421, P50AG023501, AG027944, R01AG020688, AG 030653, P50AG016574)
  • National Institute of Mental Health (MH60451, R01MH080295, P50MH060451)
  • National Human Genome Research Institute (U01HG004610, U01HG006375)
  • National Cancer Institute (R01CA129769, U54CA137788, U54CA132378)
  • National Institute of Neurological Disorders and Stroke (NS3 9764, R01NS059873, P50NS039764)
  • National Center for Research Resources (UL1RR02777, UL1RR029893, M01 RR 00096, M01RR000096)
Topics
  • Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
  • Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords
Alzheimer's disease, genetic susceptibility loci, clusterin, complement receptor 1, ABCA7, BIN1, PICALM, apolipoprotein E, expression quantitative trait loci, brain gene expression, brain regional expression
MeSH terms
Aged, Aged, 80 and over, Alzheimer Disease, Brain, Chromosome Mapping, Female, Gene Frequency, Humans, Male, Risk Factors, DNA Methylation, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Genome-Wide Association Study, Genetic Loci

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review