A polymorphism in the tau gene associated with risk for Alzheimer's disease

被引：62

作者：

Bullido, MJ

Aldudo, J

Frank, A

Coria, F

Avila, J

Valdivieso, F ^{[1
]}

机构：

[1] Univ Autonoma Madrid, Dept Biol Mol, E-28049 Madrid, Spain

[2] Univ Autonoma Madrid, CSIC, Ctr Biol Mol Severo Ochoa, E-28049 Madrid, Spain

[3] Univ Autonoma Madrid, Hosp Univ La Paz, Serv Neurol, Madrid 28034, Spain

[4] Clin Enfermedades Sistema Nervioso, Palma de Mallorca, Spain

来源：

NEUROSCIENCE LETTERS | 2000年 / 278卷 / 1-2期

关键词：

tau; apolipoprotein E4; Alzheimer's disease; polymorphism; interaction;

D O I：

10.1016/S0304-3940(99)00893-9

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Searching for tau genetic variations which could be associated with risk for Alzheimer's disease (AD), we have performed a mutational analysis of a region containing the whole exon 11 of the tau gene, which encodes a microtubule binding region critical for tau self-assembly, and we have found a biallelic polymorphism at position +34 of intron 11 (IVS11 + 34G/A). We have analyzed the allelic frequencies of this polymorphism in a case-control sample (167 clinically diagnosed AD and 194 controls) and found that the presence of any G allele (genotypes AG + GG) is associated with a five-fold AD risk in individuals carrying the apolipoprotein E4 allele, strongly suggesting that the combined effect of tau and apoE is relevant in relation with AD pathogenesis. (C) 2000 Elsevier Science Ireland Ltd. All rights reserved.

引用

页码：49 / 52

页数：4

共 14 条

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