Abstract
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 nondemented 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.
| Original language | English |
|---|---|
| Pages (from-to) | 179-182 |
| Number of pages | 4 |
| Journal | American Journal of Medical Genetics - Neuropsychiatric Genetics |
| Volume | 105 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Mar 8 2001 |
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Keywords
- APOE
- Cat D
- CTSD
- Interactions
ASJC Scopus subject areas
- Genetics(clinical)
- Neuropsychology and Physiological Psychology
- Neuroscience(all)
Cite this
Non-replication of association between cathepsin D genotype and late onset alzheimer disease. / Menzer, Gunnar; Müller-Thomsen, Tomas; Meins, Wolfgang; Alberici, Antonella; Binetti, Giuliano; Hock, Christoph; Nitsch, Roger M.; Stoppe, Gabriela; Reiss, Jochen; Finckh, Ulrich.
In: American Journal of Medical Genetics - Neuropsychiatric Genetics, Vol. 105, No. 2, 08.03.2001, p. 179-182.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Non-replication of association between cathepsin D genotype and late onset alzheimer disease
AU - Menzer, Gunnar
AU - Müller-Thomsen, Tomas
AU - Meins, Wolfgang
AU - Alberici, Antonella
AU - Binetti, Giuliano
AU - Hock, Christoph
AU - Nitsch, Roger M.
AU - Stoppe, Gabriela
AU - Reiss, Jochen
AU - Finckh, Ulrich
PY - 2001/3/8
Y1 - 2001/3/8
N2 - 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 nondemented 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.
AB - 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 nondemented 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.
KW - APOE
KW - Cat D
KW - CTSD
KW - Interactions
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UR - http://www.scopus.com/inward/citedby.url?scp=0035825982&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1204
DO - 10.1002/ajmg.1204
M3 - Article
VL - 105
SP - 179
EP - 182
JO - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
JF - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
SN - 1552-4841
IS - 2
ER -