title: Association between cathepsin D polymorphism and Alzheimer's disease in a Chinese Han population.
abstract: 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 beta-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 APOEepsilon4 allele in increasing the risk for developing AD.
authors.affiliation: National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Peking Union Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, P.R. China.
authors.forename: Xiao-Qing
authors.initials: XQ
authors.lastname: Li
authors.forename: Deng
authors.initials: D
authors.lastname: Chen
authors.forename: Zhen-Xin
authors.initials: ZX
authors.lastname: Zhang
authors.forename: Qiu-Ming
authors.initials: QM
authors.lastname: Qu
authors.forename: Jun-Wu
authors.initials: JW
authors.lastname: Zhang
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000235:genetics*; D053327:Apolipoprotein E4; D001057:Apolipoproteins E / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006580:Genetic Carrier Screening; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D011110:Polymorphism, Genetic / Q000235:genetics*; D012306:Risk
chemical_list: D053327:Apolipoprotein E4; D001057:Apolipoproteins E