Am J Epidemiol 2004; 159:527-536.
Copyright © 2004 by the Johns
Hopkins Bloomberg School of Public Health
HUMAN GENOME EPIDEMIOLOGY (HuGE) REVIEW |
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
1 Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina School of Medicine, Ioannina, Greece.
2 Biomedical Research Institute, Foundation for Research and Technology-Hellas, Ioannina, Greece.
3 Institute for Clinical Research and Health Policy Studies, Department of Medicine, Tufts-New England Medical Center, Tufts University School of Medicine, Boston, MA.
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 
4 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.
Alzheimer disease; cathepsin D; CTSD; epidemiology; genetics; meta-analysis; polymorphism (genetics)
Abbreviations: Abbreviations: CI, confidence interval; OR, odds ratio.
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