title: Genetic association of a cathepsin D polymorphism and sporadic Creutzfeldt-Jakob disease.
abstract: 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.
  
  
  METHODS
  We compared the genotype and allele frequencies at this polymorphism site in 172 sporadic CJD patients with those in 197 healthy Koreans.
  
  
  CONCLUSIONS
  Our study does not show a significant difference in genotype (p = 0.901) and allele (p = 0.509) frequencies of CTSD C224T between sporadic CJD patients and normal controls. This was the first genetic association study of CTSD in a sporadic CJD population.
authors.affiliation: Ilsong Institute of Life Science, Hallym University, Anyang, South Korea.
authors.forename: Byung-Hoon
authors.initials: BH
authors.lastname: Jeong
authors.forename: Kyung-Hee
authors.initials: KH
authors.lastname: Lee
authors.forename: Yun-Jung
authors.initials: YJ
authors.lastname: Lee
authors.forename: Jisuk
authors.initials: J
authors.lastname: Yun
authors.forename: Young-Jae
authors.initials: YJ
authors.lastname: Park
authors.forename: Yoonsang
authors.initials: Y
authors.lastname: Bae
authors.forename: Young-Hoon
authors.initials: YH
authors.lastname: Kim
authors.forename: Young-Sook
authors.initials: YS
authors.lastname: Cho
authors.forename: Eun-Kyoung
authors.initials: EK
authors.lastname: Choi
authors.forename: Richard I
authors.initials: RI
authors.lastname: Carp
authors.forename: Yong-Sun
authors.initials: YS
authors.lastname: Kim
mesh_terms: D017668:Age of Onset; D000368:Aged; D000483:Alleles; D002402:Cathepsin D / Q000235:genetics*; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007723:Korea / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic
chemical_list: D004247:DNA; D002402:Cathepsin D