Polymorphisms at codons 56 and 174 of the prion-like protein gene (PRND) are not associated with sporadic Creutzfeldt-Jakob disease

Lee

et al. 2009

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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. Results and Conclusion: 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.

Section: Discussionmentioning

confidence: 97%

Genetic Association of a Cathepsin D Polymorphism and Sporadic Creutzfeldt-Jakob Disease

Lee

et al. 2009

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“…Studies on a correlation between the PRND polymorphisms and neurodegenerative diseases in various populations have shown contradictory results [38][39][40][41] . In the future, to evaluate the possible involvement of PRND in VaD, we will investigate the relationship between the PRND polymorphisms and VaD in the Korean population.…”

Section: Discussionmentioning

confidence: 99%

Absence of Association between Codon 129 and 219 Polymorphisms of the Prion Protein Gene and Vascular Dementia

Bae

et al. 2007

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Background: Polymorphisms of the prion protein gene (PRNP) are known to cause a strong susceptibility to the occurrence of prion diseases, such as Creutzfeldt-Jakob disease, and might be associated with other neurodegenerative disorders. However, an association between PRNP polymorphisms and vascular dementia (VaD) has not been reported thus far. Objective: To investigate whether the PRNP polymorphisms are associated with an increased risk for developing VaD in the Korean population. Methods: We compared the genotype, allele and haplotype frequencies of PRNP polymorphisms in 160 VaD patients with those in 236 healthy Koreans. Results and Conclusion: Codon 129 (M129V) and 219 (Q219K) polymorphisms in Korean VaD patients were found in the open reading frame of PRNP. Our study shows that there is no significant difference in the genotype, allele and haplotype frequencies of PRNP codon 129 and 219 polymorphisms between Korean VaD patients and normal controls. This was the first genetic association study of the polymorphisms of PRNP with VaD.

“…However, CTSD C224T, PRNP 1368 polymorphism and polymorphisms in codons 56 and 174 of PRND did not affect the susceptibility to sporadic CJD [39,40,41]. …”

Section: Discussionmentioning

confidence: 99%

Absence of Association between Two <i>HECTD2</i> Polymorphisms and Sporadic Creutzfeldt-Jakob Disease

Lee

et al. 2011

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Background: HECT (homologous to E6-AP carboxyl terminus) E3 ubiquitin ligases are fundamental components of the eukaryotic ubiquitin-proteasome system and are involved in the pathogenesis of several human diseases, including polyglutamine diseases. HECTD2, an E3 ubiquitin ligase, has been linked to the incubation time of prion disease in mice, and its polymorphisms have been associated with sporadic Creutzfeldt-Jakob disease (CJD) in the British population. Objective: To investigate whether 2 HECTD2 polymorphisms, –247G→A (rs7081363) and +16066T→A (rs12249854), are associated with sporadic CJD in the Korean population. Methods: We compared the genotype, allele and haplotype frequencies of the 2 HECTD2 polymorphisms in 205 sporadic CJD patients to those of 208 healthy Koreans. Results and Conclusion: Our study does not show significant differences in the genotype and allele frequencies of these 2 polymorphisms between sporadic CJD and normal controls. Significant differences in the haplotype frequencies of these 2 polymorphisms were not observed between sporadic CJD and normal controls either. Our results indicate that these 2 HECTD2 polymorphisms are not associated with genetic susceptibility to sporadic CJD in a Korean population. This is the first genetic association study of HECTD2 with sporadic CJD in an Asian population.