Genetic association of a cathepsin D polymorphism and sporadic Creutzfeldt-Jakob disease.
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.
Jeong
Byung-Hoon
BH
Ilsong Institute of Life Science, Hallym University, Anyang, South Korea.
Lee
Kyung-Hee
KH
Lee
Yun-Jung
YJ
Yun
Jisuk
J
Park
Young-Jae
YJ
Bae
Yoonsang
Y
Kim
Young-Hoon
YH
Cho
Young-Sook
YS
Choi
Eun-Kyoung
EK
Carp
Richard I
RI
Kim
Yong-Sun
YS
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
D004247:DNA; D002402:Cathepsin D