Association of sporadic Creutzfeldt–Jakob disease with homozygous genotypes at PRNP codons 129 and 219 in the Korean population

Jeong, Byung‐Hoon; Lee, Kyung‐Hee; Kim, Nam-Ho; Jin, Jae-Kwang; Kim, Jae-Il; Carp, Richard I.; Kim, Yong‐Sun

doi:10.1007/s10048-005-0016-y

Cited by 78 publications

(69 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In our previous studies, we observed that polymorphisms in codons 129 and 219 of PRNP and a polymorphism at the 3′ untranslated region +28 of PRND are associated with the development of sporadic CJD in the Korean population [3,37,38]. 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%

“…Both codon 129 and 219 in PRNP were strongly associated with sporadic CJD [2,3,31]. Codon 129 of PRNP also has an effect on susceptibility in other types of human prion diseases [32].…”

Section: Discussionmentioning

confidence: 99%

“…PRNP plays an important role in conferring susceptibility to sporadic CJD. A common polymorphism in codon 129 of PRNP has been shown to be a genetic factor for sporadic CJD [2,3]. However, epidemiological data on the incidence of sporadic CJD and genotype frequencies of codon 129 [4] indicate that this polymorphism is unlikely to be the sole genetic factor determining CJD susceptibility.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

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

Jeong

Lee

et al. 2011

Dement Geriatr Cogn Disord

Self Cite

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 99%

“…Both codon 129 and 219 in PRNP were strongly associated with sporadic CJD [2,3,31]. Codon 129 of PRNP also has an effect on susceptibility in other types of human prion diseases [32].…”

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

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

Jeong

Lee

et al. 2011

Dement Geriatr Cogn Disord

Self Cite

View full text Add to dashboard Cite

show abstract

“…Polymorphisms of PRNP at codons 129 and 219 have been shown to be a genetic factor for sporadic CJD [39]. We investigated whether the combined effects between PRNP polymorphisms and BKV subtypes are responsible for the susceptibility to sporadic CJD.…”

Section: Discussionmentioning

confidence: 99%

Absence of Association between the Incidence of BK Virus and Sporadic Creutzfeldt-Jakob Disease

Jeong¹,

Lee²,

Cho³

et al. 2013

Intervirology

Self Cite

View full text Add to dashboard Cite

Background: Many studies suggest that the virus-like particles are required for the infection of Creutzfeldt-Jakob disease (CJD). Objective: To determine the relationship between BK polyomavirus (BKV) and sporadic CJD. Materials and Methods: We investigated the prevalence of BKV in urine samples from 94 sporadic CJD patients and 54 other neurological disease (OND) patients using polymerase chain reaction. Results: BKV DNA was detected in 16 (17%) and 9 (16.7%) urine samples from sporadic CJD and OND patients, respectively. There was no significant difference in the incidence of BKV infection between Korean sporadic CJD and OND patients (p = 0.9558). In order to investigate the genotypes of BKV, we analyzed 22 BKV isolates obtained from Korean patients by DNA sequencing and nucleotide sequence analysis. Three distinct subtypes, namely I, III, and IV, were found in 66.7, 22.2, and 11.1% of 9 BKV isolates from OND patients, whereas subtypes I and IV were detected in 76.9 and 23.1% of 13 BKV isolates from sporadic CJD patients. Interestingly, subtype III was not detected in sporadic CJD patients. Significant differences in the frequency of BKV genotypes were not observed between sporadic CJD and OND patients. Conclusions: These results indicate that BKV may not play an important role in the pathogenesis of prion diseases.

show abstract

“…Moreover, polymorphisms at codons 129 and/or 219 of PRNP are a key determinant of genetic susceptibility to sporadic Creutzfeldt-Jakob disease (CJD) [8][9][10] . Although the exact function of the prion protein is not fully known, current evidence suggests that it is involved in neuroprotection, oxidative stress and neurodevelopment.…”

Section: Introductionmentioning

confidence: 99%

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

Jeong

Bae

et al. 2007

Dement Geriatr Cogn Disord

Self Cite

View full text Add to dashboard Cite

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.

show abstract

Association of sporadic Creutzfeldt–Jakob disease with homozygous genotypes at PRNP codons 129 and 219 in the Korean population

Cited by 78 publications

References 19 publications

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

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

Absence of Association between the Incidence of BK Virus and Sporadic Creutzfeldt-Jakob Disease

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

Contact Info

Product

Resources

About