title: [The C224T polymorphism in the cathepsin D gene is not associated with sporadic Alzheimer's disease in Chinese].
abstract: 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. It's necessary to determine the genotype of the polymorphism in CTSD in Chinese sporadic AD patients and age-matched controls with normal cognition and examine possible association of the polymorphism with the disease. We find no strong evidence of association between the CTSD C224T polymorphism and Chinese sporadic AD. Whereas there may be a weak synergistic interaction between ApoE epsilon4 and CTSD T allele.
authors.affiliation: 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. sungravel@yahoo.com.cn
authors.forename: Yan
authors.initials: Y
authors.lastname: Sun
authors.forename: Jia-Jun
authors.initials: JJ
authors.lastname: Shi
authors.forename: Si-Zhong
authors.initials: SZ
authors.lastname: Zhang
authors.forename: Mu-Ni
authors.initials: MN
authors.lastname: Tang
authors.forename: Hai-Ying
authors.initials: HY
authors.lastname: Han
authors.forename: Yang-Bo
authors.initials: YB
authors.lastname: Guo
authors.forename: Cui
authors.initials: C
authors.lastname: Ma
authors.forename: Xie-He
authors.initials: XH
authors.lastname: Liu
authors.forename: Tao
authors.initials: T
authors.lastname: Li
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000544:Alzheimer Disease / Q000208:ethnology / Q000235:genetics*; D053327:Apolipoprotein E4 / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D002402:Cathepsin D / Q000235:genetics*; D002681:China; D005091:Exons; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D012307:Risk Factors
chemical_list: D053327:Apolipoprotein E4; D002402:Cathepsin D