Journal Article

Meta-Analysis of the Association of the Cathepsin D Ala224Val Gene Polymorphism with the Risk of Alzheimer’s Disease: A HuGE Gene-Disease Association Review

Christos Ntais, Anastasia Polycarpou and John P. A. Ioannidis

in American Journal of Epidemiology

Published on behalf of Johns Hopkins Bloomberg School of Public Health

Volume 159, issue 6, pages 527-536
Published in print March 2004 | ISSN: 0002-9262
Published online March 2004 | e-ISSN: 1476-6256 | DOI: http://dx.doi.org/10.1093/aje/kwh069
Meta-Analysis of the Association of the Cathepsin D Ala224Val Gene Polymorphism with the Risk of Alzheimer’s Disease: A HuGE Gene-Disease Association Review

More Like This

Show all results sharing this subject:

  • Public Health and Epidemiology

GO

Show Summary Details

Preview

A C-to-T polymorphism in exon 2 of the cathepsin D gene encoding cathepsin D (CTSD) has been implicated as a risk factor for Alzheimer’s disease. The authors performed a meta-analysis of 14 studies (16 comparisons) with CTSD genotyping (3,174 Alzheimer’s disease cases and 3,298 controls). Overall, the random effects odds ratio for the T versus the C allele was 1.17 (95% confidence interval (CI): 0.95, 1.44), with some between-study heterogeneity (p < 0.01). There was significant between-study heterogeneity but no evidence of a significant association when the first hypothesis-generating study was excluded from the calculations (odds ratio (OR) = 1.11, 95% CI: 0.91, 1.35; p = 0.29). The summary odds ratio for T carriers versus T noncarriers was similar in subjects carrying or not carrying an apolipoprotein E ε4 allele (APOE*4). The increased susceptibility to Alzheimer’s disease conferred by APOE*4 carriage tended to be more prominent in the presence of the T allele (random effects OR = 6.07, 95% CI: 4.19, 8.79, and OR = 4.09, 95% CI: 3.15, 5.31, in T carriers and noncarriers, respectively). The meta-analysis shows that the CTSD polymorphism is not a major risk factor for Alzheimer’s disease, although a small effect or an enhancement of the APOE*4 effect cannot be excluded.

Keywords: Alzheimer disease; cathepsin D; CTSD; epidemiology; genetics; meta-analysis; polymorphism (genetics); Abbreviations: CI, confidence interval; OR, odds ratio.

Journal Article.  6273 words.  Illustrated.

Subjects: Public Health and Epidemiology

Full text: subscription required

How to subscribe Recommend to my Librarian

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.