Non-replication of association between cathepsin D genotype and late onset Alzheimer disease.
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.
Menzer
G
G
Department of Human Genetics, University Hospital Hamburg-Eppendorf, Germany.
Müller-Thomsen
T
T
Meins
W
W
Alberici
A
A
Binetti
G
G
Hock
C
C
Nitsch
R M
RM
Stoppe
G
G
Reiss
J
J
Finckh
U
U
D000367:Age Factors; D017668:Age of Onset; D000368:Aged; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D002402:Cathepsin D / Q000235:genetics*; D005260:Female; D005838:Genotype; D005858:Germany; D006579:Heterozygote; D006801:Humans; D007558:Italy; D008297:Male; D015233:Models, Statistical; D016017:Odds Ratio; D011110:Polymorphism, Genetic / Q000235:genetics; D012737:Sex Factors; D013557:Switzerland
D002402:Cathepsin D