The cathepsin D gene (CTSD) exon 2 (C224T) polymorphism has been associated with an increased risk for sporadic Alzheimer's disease (AD), but with controversial findings. We studied CTSD exon 2 (C224T) and apolipoprotein E (APOE) genotype frequencies in 168 AD patients and 218 age-matched healthy controls from Southern Italy. No statistically significant differences were found in CTSD allele or genotype frequencies between AD patients and controls, and there were no interactions with sex or APOE genotype. Furthermore, comparing our results with the findings from other European populations, the CTSD*T allele frequency showed a statistically significant increasing trend from Northern to Southern regions of Europe in AD patients and controls (z=2.51, p<.01; z=4.02, p<.001, respectively), with a concomitant inverse trend for CTSD*C allele frequency. The regional differences in CTSD allele frequencies could be related to the different patterns of association between this polymorphism and AD in various European studies.
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Genetic polymorphism in exon 2 of cathepsin D is not associated with vascular dementia.
Acta Neurol Scand
June 2011
Ilsong Institute of Life Science, Hallym University, Dongan-gu, Anyang, Gyeonggi-do, South Korea.
Background: Cathepsin D, the most abundant lysosomal and endosomal aspartyl protease, shows beta and gamma secretase activity in vitro by cleaving the amyloid precursor protein (APP) into amyloid beta protein (Aβ). Polymorphism at position 224, C224T, on exon 2 of cathepsin D gene (CTSD) has been associated with an increased risk for Alzheimer's disease (AD) by some investigators, but there have been contrary findings by others. However, an association between CTSD polymorphism and vascular dementia (VaD) has not been reported thus far.
View Article and Find Full Text PDFGenetic association of a cathepsin D polymorphism and sporadic Creutzfeldt-Jakob disease.
Dement Geriatr Cogn Disord
January 2010
Ilsong Institute of Life Science, Hallym University, Anyang, South Korea.
Background: Cathepsin D is the most abundant lysosomal and endosomal aspartyl protease; it shows beta and gamma secretase activity in vitro by cleaving the amyloid precursor protein into amyloid beta protein. In recent studies, cathepsin D was co-localized with PrP(Sc), the disease-associated form of the prion disease, and abnormal expression of cathepsin D correlated with tissue damage in brains of sporadic Creutzfeldt-Jakob disease (CJD).
Objective: To investigate whether a polymorphism at position 224, C224T, on exon 2 of the cathepsin D gene (CTSD) is associated with sporadic CJD in the Korean population.
Cathepsin D (C224T) polymorphism in sporadic and genetic Creutzfeldt-Jakob disease.
Alzheimer Dis Assoc Disord
June 2010
Institute of Neurology, Medical University of Vienna, Austria.
Accumulation of cathepsin D immunoreactive lysosomes correlates with tissue pathology in sporadic Creutzfeldt-Jakob disease (CJD) brains. The C-to-T transition within exon 2 of the cathepsin D (CTSD) gene is associated with altered enzymatic activity. Possession of the TT genotype is a risk factor for variant CJD.
View Article and Find Full Text PDFThe cathepsin D gene exon 2 (C224T) polymorphism and sporadic Alzheimer's disease in European populations.
J Gerontol A Biol Sci Med Sci
August 2005
Department of Geriatrics, University of Foggia, Foggia, Italy.
The cathepsin D gene (CTSD) exon 2 (C224T) polymorphism has been associated with an increased risk for sporadic Alzheimer's disease (AD), but with controversial findings. We studied CTSD exon 2 (C224T) and apolipoprotein E (APOE) genotype frequencies in 168 AD patients and 218 age-matched healthy controls from Southern Italy. No statistically significant differences were found in CTSD allele or genotype frequencies between AD patients and controls, and there were no interactions with sex or APOE genotype.
View Article and Find Full Text PDF[The C224T polymorphism in the cathepsin D gene is not associated with sporadic Alzheimer's disease in Chinese].
Yi Chuan
March 2005
Department of Medical Genetics, West China Hospital, Sichuan University, and Division of Human Morbid Genomics, Key Laboratory of Biotherapy of Human Diseases, Ministry of Education, Chengdu 610041,China.
Cathepsin D is the major lysosomal/endosomal aspartic protease and exhibits beta- and gamma-secretase-like activity in vitro. Data from German suggest that the C224T polymorphism in the Cathepsin D gene (CTSD) exon 2 is strongly associated with the risk for Alzheimer's disease (AD). Meanwhile other studies have not been able to replicate the result.
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