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

Human prion protein gene (PRNP) is considered an important gene in determining the incidence of human transmissible spongiform encephalopathies or prion diseases. Polymorphisms of PRNP at codon 129 in Europeans and codon 219 in Japanese may play an important role in the susceptibility to sporadic Cr...

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Bibliographic Details
Published in:Neurogenetics 2005-12, Vol.6 (4), p.229-232
Main Authors: JEONG, Byung-Hoon, LEE, Kyung-Hee, KIM, Nam-Ho, JIN, Jae-Kwang, KIM, Jae-Il, CARP, Richard I, KIM, Yong-Sun
Format: Article
Language:English
Subjects:
Alleles
Asian Continental Ancestry Group
Biological and medical sciences
Codon
Creutzfeldt-Jakob disease
Creutzfeldt-Jakob Syndrome - genetics
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
European Continental Ancestry Group
Gene Frequency
Gene loci
General aspects. Genetic counseling
Genetics, Population
Genotype
Homozygote
Humans
Korea
Medical genetics
Medical research
Medical sciences
Neurology
Nucleotides - chemistry
Polymorphism
Polymorphism, Genetic
Prions
Prions - genetics
Spongiform encephalopathies
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Summary:Human prion protein gene (PRNP) is considered an important gene in determining the incidence of human transmissible spongiform encephalopathies or prion diseases. Polymorphisms of PRNP at codon 129 in Europeans and codon 219 in Japanese may play an important role in the susceptibility to sporadic Creutzfeldt-Jakob disease (CJD); data regarding codon 129 in the Japanese population have led to divergent interpretations. In order to determine which, if any, of the PRNP genotypes in Korean people are associated with sporadic CJD, we examined the genotype and allelic distributions of human PRNP polymorphisms in 150 patients with sporadic CJD. All Korean sporadic CJD patients were Met/Met at codon 129, Glu/Glu at codon 219 and undeleted at the octarepeat region of PRNP. Our study showed significant differences in genotype frequency of PRNP at codon 129 (chi 2=8.8998, P=0.0117) or 219 (chi 2=12.6945, P=0.0004) between sporadic CJD and normal controls. Furthermore, the genotype frequency of the heterozygotes for codons 129 and/or 219 showed a significant difference between the normal population and sporadic CJD patients (chi 2=21.0780, P
ISSN:1364-6745
1364-6753
DOI:10.1007/s10048-005-0016-y