Original Research Article
Association between Cathepsin D Polymorphism and Alzheimer’s Disease in a Chinese Han PopulationLi X.-Q.a · Chen D.a · Zhang Z.-X.b · Qu Q.-M.c · Zhang J.-W.a
aNational Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, and bDepartment of Neurology, Peking Union Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, and cDepartment of Neurology, the First Affiliated Hospital, Xi’an Medical University, ShaanxiProvince, P.R. China
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Cathepsin D (CTSD) is an intracellular aspartyl protease, which is active in the endosomal/lysosomal system. CTSD may play a role in Alzheimer’s disease (AD) through cleaving the amyloid precursor protein into β-amyloid peptide and degrading tau protein into fragments. A functional polymorphism in exon 2 of the cathepsin D gene (C→T, Ala224Val) has recently been reported to increase the risk for AD in some of the Caucasian populations, with a significant overrepresentation of the T allele, but these reports have not been universally duplicated. We performed an association study between CTSD polymorphism and AD in 156 sporadic AD patients and 183 controls of Chinese Han ethnicity. Our data revealed that the distribution of CTSD genotypes and alleles was similar in patients and controls. No direct association was found between CTSD polymorphism and AD risk. There might be a weak synergistic interaction between CTSD T and APOEΕ4 allele in increasing the risk for developing AD.
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