The -491A/T polymorphism of the apolipoprotein E gene is associated with the ApoEε4 allele and Alzheimer's Disease

被引:23
作者
Ahmed, ARH
MacGowan, SH [1 ]
Culpan, D
Jones, RW
Wilcock, GK
机构
[1] Univ Bristol, Frenchay Day Hosp Lab, Dept Care Elderly, Frenchay Hosp, Bristol BS16 1LE, Avon, England
[2] St Martins Hosp, Res Inst Care Elderly, Bath BA2 5RP, Avon, England
关键词
Alzheimer's disease; -491 A/T polymorphism; ApoE epsilon 4; gender;
D O I
10.1016/S0304-3940(99)00126-3
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
Several studies have attempted to confirm the association between the recently reported polymorphism located at position -491 in the transcriptional regulatory region of the Apolipoprotein E (ApoE) gene and Alzheimer's disease (AD). Results have been inconclusive, possibly due to the use or clinically diagnosed subjects and controls only. In this retrospective case-control study of 149 (96 AD and 53 controls) brain samples we show that homozygosity for the -491A variant is associated with an increased risk of development of AD. The genotype is also strongly associated with the presence of at least one epsilon 4 allele (an established risk factor for AD) in women but not in men. (C) 1999 Elsevier Science Ireland Ltd. All rights reserved.
引用
收藏
页码:217 / 219
页数:3
相关论文
共 9 条
[1]   Allelic polymorphisms in the transcriptional regulatory region of apolipoprotein E gene [J].
Artiga, MJ ;
Bullido, MJ ;
Sastre, I ;
Recuero, M ;
García, MA ;
Aldudo, J ;
Vázquez, J ;
Valdivieso, F .
FEBS LETTERS, 1998, 421 (02) :105-108
[2]   A polymorphism in the regulatory region of APOE associated with risk for Alzheimer's dementia [J].
Bullido, MJ ;
Artiga, MJ ;
Recuero, M ;
Sastre, I ;
Garcia, MA ;
Aldudo, J ;
Lendon, C ;
Han, SW ;
Morris, JC ;
Frank, A ;
Vázquez, J ;
Goate, A ;
Valdivieso, F .
NATURE GENETICS, 1998, 18 (01) :69-71
[3]  
Combarros O, 1998, ACTA NEUROL SCAND, V97, P68
[4]   GENE DOSE OF APOLIPOPROTEIN-E TYPE-4 ALLELE AND THE RISK OF ALZHEIMERS-DISEASE IN LATE-ONSET FAMILIES [J].
CORDER, EH ;
SAUNDERS, AM ;
STRITTMATTER, WJ ;
SCHMECHEL, DE ;
GASKELL, PC ;
SMALL, GW ;
ROSES, AD ;
HAINES, JL ;
PERICAKVANCE, MA .
SCIENCE, 1993, 261 (5123) :921-923
[5]   Very old women at highest risk of dementia and Alzheimer's disease: Incidence data from the Kungsholmen project, Stockholm [J].
Fratiglioni, L ;
Viitanen, M ;
vonStrauss, E ;
Tontodonati, V ;
Herlitz, A ;
Winblad, B .
NEUROLOGY, 1997, 48 (01) :132-138
[6]   THE CONSORTIUM TO ESTABLISH A REGISTRY FOR ALZHEIMERS-DISEASE (CERAD) .2. STANDARDIZATION OF THE NEUROPATHOLOGIC ASSESSMENT OF ALZHEIMERS-DISEASE [J].
MIRRA, SS ;
HEYMAN, A ;
MCKEEL, D ;
SUMI, SM ;
CRAIN, BJ ;
BROWNLEE, LM ;
VOGEL, FS ;
HUGHES, JP ;
VANBELLE, G ;
BERG, L .
NEUROLOGY, 1991, 41 (04) :479-486
[7]   INCREASED AMYLOID BETA-PEPTIDE DEPOSITION IN CEREBRAL-CORTEX AS A CONSEQUENCE OF APOLIPOPROTEIN-E GENOTYPE IN LATE-ONSET ALZHEIMER-DISEASE [J].
SCHMECHEL, DE ;
SAUNDERS, AM ;
STRITTMATTER, WJ ;
CRAIN, BJ ;
HULETTE, CM ;
JOO, SH ;
PERICAKVANCE, MA ;
GOLDGABER, D ;
ROSES, AD .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1993, 90 (20) :9649-9653
[8]   Absence of association between Alzheimer disease and the -491 regulatory region polymorphism of APOE [J].
Song, YQ ;
Rogaeva, E ;
Premkumar, S ;
Brindle, N ;
Kawarai, T ;
Orlacchio, A ;
Yu, G ;
Levesque, G ;
Nishimura, M ;
Ikeda, M ;
Pei, Y ;
O'Toole, C ;
Duara, R ;
Barker, W ;
Sorbi, S ;
Freedman, M ;
Farrer, L ;
St George-Hyslop, P .
NEUROSCIENCE LETTERS, 1998, 250 (03) :189-192
[9]   APOLIPOPROTEIN-E GENOTYPING BY ONE-STAGE PCR [J].
WENHAM, PR ;
PRICE, WH ;
BLUNDELL, G .
LANCET, 1991, 337 (8750) :1158-1159