Polymorphisms in BACE2 may affect the age of onset Alzheimer's dementia in Down syndrome

被引：25

作者：

Mok, Kin Y. ^{[1
,2
]}

Jones, Emma L. ^{[3
]}

Hanney, Marisa ^{[4
]}

Harold, Denise ^{[5
]}

Sims, Rebecca ^{[5
]}

Williams, Julie ^{[5
]}

Ballard, Clive ^{[3
]}

Hardy, John ^{[1
,2
,6
]}

机构：

[1] UCL Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

[2] UCL Inst Neurol, Reta Lila Weston Inst, London WC1N 3BG, England

[3] Kings Coll London, Wolfson Ctr Age Related Dis, London, England

[4] Northgate Hosp, Morpeth, Northd, England

[5] Cardiff Univ, Henry Wellcome Bldg Biomed Res, MRC Ctr Neuropsychiat Genet & Genom, Cardiff, S Glam, Wales

[6] London Syndrome LonDownS Consortium, London, England

来源：

NEUROBIOLOGY OF AGING | 2014年 / 35卷 / 06期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

Down syndrome; BACE2; Alzheimer's disease; rs2252576; COMMON VARIANTS; EXPRESSION; APP; ASSOCIATION; DISEASE; ADULTS; CD2AP; EPHA1; CD33;

D O I：

10.1016/j.neurobiolaging.2013.12.022

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

It is known that Alzheimer's disease (AD) presents at an early age in people with Down syndrome (DS). The trisomy 21 in DS provides an opportunity to study the effect of duplicated genes in AD. APP and BACE2 are 2 genes located in chromosome 21 and related to AD. We looked into our cohort of 67 DS cases with dementia for the effect of BACE2 variants in age of onset of dementia. Of the 83 single-nucleotide polymorphisms (SNPs), 6 were associated with age of onset and another 8 SNPs were borderline associated. Our finding also replicated a previous study showing association of rs2252576 with AD. (C) 2014 The Authors. Published by Elsevier Inc. All rights reserved.

引用

页码：1513.e1 / 1513.e5

页数：5

共 19 条

[1] Identification of BACE2 as an avid β-amyloid-degrading protease [J].

Abdul-Hay, Samer O. ;

Sahara, Tomoko ;

McBride, Melinda ;

Kang, Dongcheul ;

Leissring, Malcolm A. .

MOLECULAR NEURODEGENERATION, 2012, 7

[2] Protein expression of BACE1, BACE2 and APP in down syndrome brains [J].

Cheon, M. S. ;

Dierssen, M. ;

Kim, S. H. ;

Lubec, G. .

AMINO ACIDS, 2008, 35 (02) :339-343

[3] Memantine for dementia in adults older than 40 years with Down's syndrome (MEADOWS): a randomised, double-blind, placebo-controlled trial [J].

Hanney, Marisa ;

Prasher, Vee ;

Williams, Nicola ;

Jones, Emma L. ;

Aarsland, Dag ;

Corbett, Anne ;

Lawrence, Dale ;

Yu, Ly-Mee ;

Tyrer, Stephen ;

Francis, Paul T. ;

Johnson, Tony ;

Bullock, Roger ;

Ballard, Clive .

LANCET, 2012, 379 (9815) :528-536

[4] BACE2 Expression Increases in Human Neurodegenerative Disease [J].

Holler, Christopher J. ;

Webb, Robin L. ;

Laux, Ashley L. ;

Beckett, Tina L. ;

Niedowicz, Dana M. ;

Ahmed, Rachel R. ;

Liu, Yinxing ;

Simmons, Christopher R. ;

Dowling, Amy L. S. ;

Spinelli, Angela ;

Khurgel, Moshe ;

Estus, Steven ;

Head, Elizabeth ;

Hersh, Louis B. ;

Murphy, M. Paul .

AMERICAN JOURNAL OF PATHOLOGY, 2012, 180 (01) :337-350

[5] Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease [J].

Hollingworth, Paul ;

Harold, Denise ;

Sims, Rebecca ;

Gerrish, Amy ;

Lambert, Jean-Charles ;

Carrasquillo, Minerva M. ;

Abraham, Richard ;

Hamshere, Marian L. ;

Pahwa, Jaspreet Singh ;

Moskvina, Valentina ;

Dowzell, Kimberley ;

Jones, Nicola ;

Stretton, Alexandra ;

Thomas, Charlene ;

Richards, Alex ;

Ivanov, Dobril ;

Widdowson, Caroline ;

Chapman, Jade ;

Lovestone, Simon ;

Powell, John ;

Proitsi, Petroula ;

Lupton, Michelle K. ;

Brayne, Carol ;

Rubinsztein, David C. ;

Gill, Michael ;

Lawlor, Brian ;

Lynch, Aoibhinn ;

Brown, Kristelle S. ;

Passmore, Peter A. ;

Craig, David ;

McGuinness, Bernadette ;

Todd, Stephen ;

Holmes, Clive ;

Mann, David ;

Smith, A. David ;

Beaumont, Helen ;

Warden, Donald ;

Wilcock, Gordon ;

Love, Seth ;

Kehoe, Patrick G. ;

Hooper, Nigel M. ;

Vardy, Emma R. L. C. ;

Hardy, John ;

Mead, Simon ;

Fox, Nick C. ;

Rossor, Martin ;

Collinge, John ;

Maier, Wolfgang ;

Jessen, Frank ;

Ruether, Eckart .

NATURE GENETICS, 2011, 43 (05) :429-+

[6] Evidence that PICALM affects age at onset of Alzheimer's dementia in Down syndrome [J].

Jones, Emma L. ;

Mok, Kin ;

Hanney, Marisa ;

Harold, Denise ;

Sims, Rebecca ;

Williams, Julie ;

Ballard, Clive .

NEUROBIOLOGY OF AGING, 2013, 34 (10) :2441.e1-2441.e5

[7] Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease [J].

Lambert, Jean-Charles ;

Ibrahim-Verbaas, Carla A. ;

Harold, Denise ;

Naj, Adam C. ;

Sims, Rebecca ;

Bellenguez, Celine ;

Jun, Gyungah ;

DeStefano, Anita L. ;

Bis, Joshua C. ;

Beecham, Gary W. ;

Grenier-Boley, Benjamin ;

Russo, Giancarlo ;

Thornton-Wells, Tricia A. ;

Jones, Nicola ;

Smith, Albert V. ;

Chouraki, Vincent ;

Thomas, Charlene ;

Ikram, M. Arfan ;

Zelenika, Diana ;

Vardarajan, Badri N. ;

Kamatani, Yoichiro ;

Lin, Chiao-Feng ;

Gerrish, Amy ;

Schmidt, Helena ;

Kunkle, Brian ;

Dunstan, Melanie L. ;

Ruiz, Agustin ;

Bihoreau, Marie-Therese ;

Choi, Seung-Hoan ;

Reitz, Christiane ;

Pasquier, Florence ;

Hollingworth, Paul ;

Ramirez, Alfredo ;

Hanon, Olivier ;

Fitzpatrick, Annette L. ;

Buxbaum, Joseph D. ;

Campion, Dominique ;

Crane, Paul K. ;

Baldwin, Clinton ;

Becker, Tim ;

Gudnason, Vilmundur ;

Cruchaga, Carlos ;

Craig, David ;

Amin, Najaf ;

Berr, Claudine ;

Lopez, Oscar L. ;

De Jager, Philip L. ;

Deramecourt, Vincent ;

Johnston, Janet A. ;

Evans, Denis .

NATURE GENETICS, 2013, 45 (12) :1452-U206

[8] Gene expression profiling in the adult Down syndrome brain [J].

Lockstone, H. E. ;

Harris, L. W. ;

Swatton, J. E. ;

Wayland, M. T. ;

Holland, A. J. ;

Bahn, S. .

GENOMICS, 2007, 90 (06) :647-660

[9] SOME MORPHOMETRIC OBSERVATIONS ON THE BRAINS OF PATIENTS WITH DOWNS-SYNDROME - THEIR RELATIONSHIP TO AGE AND DEMENTIA [J].

MANN, DMA ;

ROYSTON, MC ;

RAVINDRA, CR .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1990, 99 (2-3) :153-164

[10] Fifteen-year follow-up of 92 hospitalized adults with Down's syndrome: incidence of cognitive decline, its relationship to age and neuropathology [J].

Margallo-Lana, M. L. ;

Moore, P. B. ;

Kay, D. W. K. ;

Perry, R. H. ;

Reid, B. E. ;

Berney, T. P. ;

Tyrer, S. P. .

JOURNAL OF INTELLECTUAL DISABILITY RESEARCH, 2007, 51 :463-477

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