Genetic polymorphism in exon 2 of cathepsin D is not associated with vascular dementia

Jeong B‐H, Lee K‐H, Lee Y‐J, Yun J, Park Y‐J, Kim Y‐H, Cho Y‐S, Choi E‐K, Carp RI, Kim Y‐S. Genetic polymorphism in exon 2 of cathepsin D is not associated with vascular dementia. Acta Neurol Scand: 2011: 123: 419–423. © 2010 John Wiley & Sons A/S. 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. Objective – To investigate whether a polymorphism at CTSD C224T is associated with VaD in the Korean population. Methods – We compared the genotype and allele frequencies at this polymorphism site in clinically assessed 162 VaD patients with those in 197 healthy Koreans. Results and Conclusion – The major genotype frequency at CTSD C224T in normal controls was higher in the Asian population than in various European populations. Our study does not show a significant difference in genotype (P = 0.3071) and allele (P = 0.2291) frequencies of CTSD C224T between VaD and normal controls. This was the first genetic association study of CTSD in a VaD population.