Genetic variation in CTNNA3 encoding alpha-3 catenin and Alzheimer's disease

被引：18

作者：

Blomqvist, MEL

Andreasen, N

Bogdanovic, N

Blennow, K

Brookes, AJ

Prince, JA

机构：

[1] Karolinska Inst, Ctr Genom & Bioinformat, S-17177 Stockholm, Sweden

[2] Huddinge Univ Hosp, Dept Geriatr Med, Stockholm, Sweden

[3] Huddinge Univ Hosp, Div Geriatr Med, Dept Clin Neurosci Occupat Therapy & Elderly Care, S-14186 Huddinge, Sweden

[4] Sahlgrens Univ Hosp, Univ Gothenburg, Dept Clin Neurosci & Transfus Med, S-41345 Gothenburg, Sweden

来源：

NEUROSCIENCE LETTERS | 2004年 / 358卷 / 03期

关键词：

CTNNA3; alpha-3; catenin; Alzheimer's disease; linkage disequilibrium; genetic variation;

D O I：

10.1016/j.neulet.2004.01.032

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Linkage studies have implicated a broad region on chromosome 10q in Alzheimer's disease (AD). A recent genetic association study has provided evidence that polymorphism in the gene encoding alpha-3 catenin (CTNNA3, referred to previously as VR22 and also known as alpha-T catenin) may underlie linkage signals. Here, to investigate this finding, markers that previously exhibited maximum evidence of association have been tested in Swedish and Scottish AD case-control samples. Across models of disease risk and in relation to multiple quantitative indices of AD pathology (CSF Abeta42 and tau levels, age-at-onset, MMSE scores, and measures of senile plaque density) no evidence was found supporting a role for these particular variants in AD. More detailed studies of regional linkage disequilibriurn structure around CTNNA3 will likely be required to determine whether sequence variation in this region impacts AD. (C) 2004 Elsevier Ireland Ltd. All rights reserved.

引用

页码：220 / 222

页数：3

共 16 条

[1] Evaluation of CSF-tau and CSF-Aβ42 as diagnostic markers for Alzheimer disease in clinical practice [J].

Andreasen, N ;

Minthon, L ;

Davidsson, P ;

Vanmechelen, E ;

Vanderstichele, H ;

Winblad, B ;

Blennow, K .

ARCHIVES OF NEUROLOGY, 2001, 58 (03) :373-379

[2] Evidence for genetic linkage of Alzheimer's disease to chromosome 10q [J].

Bertram, L ;

Blacker, D ;

Mullin, K ;

Keeney, D ;

Jones, J ;

Basu, S ;

Yhu, S ;

McInnis, MG ;

Go, RCP ;

Vekrellis, K ;

Selkoe, DJ ;

Saunders, AJ ;

Tanzi, RE .

SCIENCE, 2000, 290 (5500) :2302-+

[3] Fine mapping of the α-T catenin gene to a quantitative trait locus on chromosome 10 in late-onset Alzheimer's disease pedigrees [J].

Ertekin-Taner, N ;

Ronald, J ;

Asahara, H ;

Younkin, L ;

Hella, M ;

Jain, S ;

Gnida, E ;

Younkin, S ;

Fadale, D ;

Ohyagi, Y ;

Singleton, A ;

Scanlin, L ;

de Andrade, M ;

Petersen, R ;

Graff-Radford, N ;

Hutton, M ;

Younkin, S .

HUMAN MOLECULAR GENETICS, 2003, 12 (23) :3133-3143

[4] Linkage of plasma Aβ42 to a quantitative locus on chromosome 10 in late-onset Alzheimer's disease pedigrees [J].

Ertekin-Taner, N ;

Graff-Radford, N ;

Younkin, LH ;

Eckman, C ;

Baker, M ;

Adamson, J ;

Ronald, J ;

Blangero, J ;

Hutton, M ;

Younkin, SG .

SCIENCE, 2000, 290 (5500) :2303-+

[5] SEGREGATION OF A MISSENSE MUTATION IN THE AMYLOID PRECURSOR PROTEIN GENE WITH FAMILIAL ALZHEIMERS-DISEASE [J].

GOATE, A ;

CHARTIERHARLIN, MC ;

MULLAN, M ;

BROWN, J ;

CRAWFORD, F ;

FIDANI, L ;

GIUFFRA, L ;

HAYNES, A ;

IRVING, N ;

JAMES, L ;

MANT, R ;

NEWTON, P ;

ROOKE, K ;

ROQUES, P ;

TALBOT, C ;

PERICAKVANCE, M ;

ROSES, A ;

WILLIAMSON, R ;

ROSSOR, M ;

OWEN, M ;

HARDY, J .

NATURE, 1991, 349 (6311) :704-706

[6] A full genome scan for late onset Alzheimer's disease [J].

Kehoe, P ;

Wavrant-De Vrieze, F ;

Crook, R ;

Wu, WS ;

Holmans, P ;

Fenton, I ;

Spurlock, G ;

Norton, N ;

Williams, H ;

Williams, N ;

Lovestone, S ;

Perez-Tur, J ;

Hutton, M ;

Chartier-Harlin, MC ;

Shears, S ;

Roehl, K ;

Booth, J ;

Van Voorst, W ;

Ramic, D ;

Williams, J ;

Goate, A ;

Hardy, J ;

Owen, MJ .

HUMAN MOLECULAR GENETICS, 1999, 8 (02) :237-245

[7] Haplotypes extending across ACE are associated with Alzheimer's disease [J].

Kehoe, PG ;

Katzov, H ;

Feuk, L ;

Bennet, AM ;

Johansson, B ;

Wiman, B ;

de Faire, U ;

Cairns, NJ ;

Wilcock, GK ;

Brookes, AJ ;

Blennow, K ;

Prince, JA .

HUMAN MOLECULAR GENETICS, 2003, 12 (08) :859-867

[8] Variation in DCP1, encoding ACE, is associated with susceptibility to Alzheimer disease [J].

Kehoe, PG ;

Russ, C ;

McIlroy, S ;

Williams, H ;

Holmans, P ;

Holmes, C ;

Liolitsa, D ;

Vahidassr, D ;

Powell, J ;

McGleenon, B ;

Liddell, M ;

Plomin, R ;

Dynan, K ;

Williams, N ;

Neal, J ;

Cairns, NJ ;

Wilcock, G ;

Passmore, P ;

Lovestone, S ;

Williams, J ;

Owen, MJ .

NATURE GENETICS, 1999, 21 (01) :71-72

[9] Age at onset in two common neurodegenerative diseases is genetically controlled [J].

Li, YJ ;

Scott, WK ;

Hedges, DJ ;

Zhang, FY ;

Gaskell, PC ;

Nance, MA ;

Watts, RL ;

Hubble, JP ;

Koller, WC ;

Pahwa, R ;

Stern, MB ;

Hiner, BC ;

Jankovic, J ;

Allen, AA ;

Goetz, CG ;

Mastaglia, F ;

Stajich, JM ;

Gibson, RA ;

Middleton, LT ;

Saunders, AM ;

Scott, BL ;

Small, GW ;

Nicodemus, KK ;

Reed, AD ;

Schmechel, DE ;

Welsh-Bohmer, KA ;

Conneally, PM ;

Roses, AD ;

Gilbert, JR ;

Vance, JM ;

Haines, JL ;

Pericak-Vance, MA .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (04) :985-993

[10] Susceptibility locus for Alzheimer's disease on chromosome 10 [J].

Myers, A ;

Holmans, P ;

Marshall, H ;

Kwon, J ;

Meyer, D ;

Ramic, D ;

Shears, S ;

Booth, J ;

DeVrieze, FW ;

Crook, R ;

Hamshere, M ;

Abraham, R ;

Tunstall, N ;

Rice, F ;

Carty, S ;

Lillystone, S ;

Kehoe, P ;

Rudrasingham, V ;

Jones, L ;

Lovestone, S ;

Perez-Tur, J ;

Williams, J ;

Owen, MJ ;

Hardy, J ;

Goate, AM .

SCIENCE, 2000, 290 (5500) :2304-+

← 1 2 →