Non-replication of association between cathepsin D genotype and late onset Alzheimer disease
Article first published online: 11 APR 2001
Copyright © 2001 Wiley-Liss, Inc.
American Journal of Medical Genetics
Volume 105, Issue 2, pages 179–182, 8 March 2001
How to Cite
Menzer, G., Müller-Thomsen, T., Meins, W., Alberici, A., Binetti, G., Hock, C., Nitsch, R. M., Stoppe, G., Reiss, J. and Finckh, U. (2001), Non-replication of association between cathepsin D genotype and late onset Alzheimer disease. Am. J. Med. Genet., 105: 179–182. doi: 10.1002/ajmg.1204
- Issue published online: 23 OCT 2002
- Article first published online: 11 APR 2001
- Manuscript Accepted: 5 JAN 2001
- Manuscript Received: 12 SEP 2000
- Deutsche Forschungsgemeinschaft. Grant Number: DFG FI 704/1-3
- Cat D;
In two recent studies from Germany, a strong association was found between the allelic variant T of the amino acid substitution encoding polymorphism 224 C/T (A38V) in exon 2 of the cathepsin D gene (CTSD) and late onset Alzheimer disease (AD). Other studies from Europe and the USA revealed ambiguous results. Therefore, we performed an independent association study on CTSD and AD in a sample of 324 Caucasian patients from Germany, Switzerland, and Italy with late onset AD, and 302 non-demented controls. We could not confirm an association between CTSD genotype and AD, although there was a slight but not significant increase in frequency of the T allele and T carrier status in AD. Post hoc data analyses suggested that there might be a stronger effect of CTSD genotype on AD risk in males, and an interaction between CTSD and APOE genotypes in males but not females. © 2001 Wiley-Liss, Inc.