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 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<0.0001).
Jeong
Byung-Hoon
BH
Ilsong Institute of Life Science, Hallym University, Ilsong Building, 1605-4 Gwanyang-dong, Dongan-gu, Anyang, Kyonggi-do 431-060, South Korea.
Lee
Kyung-Hee
KH
Kim
Nam-Ho
NH
Jin
Jae-Kwang
JK
Kim
Jae-Il
JI
Carp
Richard I
RI
Kim
Yong-Sun
YS
D000483:Alleles; D044466:Asian People; D003062:Codon; D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics*; D005787:Gene Frequency; D005828:Genetics, Population; D005838:Genotype; D006720:Homozygote; D006801:Humans; D007723:Korea; D009711:Nucleotides / Q000737:chemistry; D011110:Polymorphism, Genetic; D011328:Prions / Q000235:genetics*; D044465:White People
D003062:Codon; D009711:Nucleotides; D011328:Prions