Non-replication of association between cathepsin D genotype and late onset alzheimer disease

Gunnar Menzer; Tomas Müller-Thomsen; Wolfgang Meins; Antonella Alberici; Giuliano Binetti; Christoph Hock; Roger M. Nitsch; Gabriela Stoppe; Jochen Reiss; Ulrich Finckh

doi:10.1002/ajmg.1204

Non-replication of association between cathepsin D genotype and late onset alzheimer disease

Gunnar Menzer, Tomas Müller-Thomsen, Wolfgang Meins, Antonella Alberici, Giuliano Binetti, Christoph Hock, Roger M. Nitsch, Gabriela Stoppe, Jochen Reiss, Ulrich Finckh

Centro San Giovanni di Dio - Fatebenefratelli

Research output: Contribution to journal › Article

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	https://doi.org/10.1002/ajmg.1204
Publication status	Published - Mar 8 2001

Keywords

APOE
Cat D
CTSD
Interactions

ASJC Scopus subject areas

Genetics(clinical)
Neuropsychology and Physiological Psychology
Neuroscience(all)

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10.1002/ajmg.1204

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Menzer, G., Müller-Thomsen, T., Meins, W., Alberici, A., Binetti, G., Hock, C., Nitsch, R. M., Stoppe, G., Reiss, J., & Finckh, U. (2001). Non-replication of association between cathepsin D genotype and late onset alzheimer disease. American Journal of Medical Genetics - Neuropsychiatric Genetics, 105(2), 179-182. https://doi.org/10.1002/ajmg.1204

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

Menzer, Gunnar ; Müller-Thomsen, Tomas ; Meins, Wolfgang ; Alberici, Antonella ; Binetti, Giuliano ; Hock, Christoph ; Nitsch, Roger M. ; Stoppe, Gabriela ; Reiss, Jochen ; Finckh, Ulrich. / Non-replication of association between cathepsin D genotype and late onset alzheimer disease. In: American Journal of Medical Genetics - Neuropsychiatric Genetics. 2001 ; Vol. 105, No. 2. pp. 179-182.

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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.",

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