Journal Article

Risk for Alzheimer's Disease Correlates with Transcriptional Activity of the <i>APOE</i> Gene

M. J. Artiga, M. J. Bullido, A. Frank, I. Sastre, M. Recuero, M. A. García, C. L. Lendon, S. W. Han, J. C. Morris, J. Vázquez, A. Goate and F. Valdivieso

in Human Molecular Genetics

Volume 7, issue 12, pages 1887-1892
Published in print November 1998 | ISSN: 0964-6906
Published online November 1998 | e-ISSN: 1460-2083 | DOI:
Risk for Alzheimer's Disease Correlates with Transcriptional Activity of the APOE Gene

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While the ε4 allele of apolipoprotein E (APOE, gene; ApoE, protein) is widely accepted as a major genetic risk factor for the late onset form of Alzheimer's disease (AD), recent evidence points to variations in ApoE levels as another important factor. We have previously reported that a common variant in the regulatory region of APOE (−491A) is associated with risk for late onset AD. In this report we analyze the association of another APOE promoter polymorphism (−427T/C) with AD in two case-control clinical samples and demonstrate a correlation between APOE promoter transcriptional activity and risk for AD. The association studies show that the allelic variant (−427C) and the haplotype [−491A-427C] of the APOE promoter are associated with increased risk for AD. Study of the transcriptional activity of the common haplotypes defined by combination of the −491 and −427 alleles indicated that the risk for late onset AD positively correlates with transcriptional activity of the APOE gene, suggesting that increases in the local expression of ApoE could be responsible for the association of APOE promoter polymorphism with AD.

Journal Article.  4311 words.  Illustrated.

Subjects: Genetics and Genomics

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