title: Polymorphisms at codons 56 and 174 of the prion-like protein gene (PRND) are not associated with sporadic Creutzfeldt-Jakob disease.
abstract: Association between sporadic Creutzfeldt-Jakob disease (CJD) and the prion-like protein gene (PRND) has been reported in the German population. To investigate whether the PRND polymorphisms are associated with an increased risk for developing sporadic CJD in the Korean population, we compared the genotype and allele frequencies of PRND polymorphisms in 110 sporadic CJD patients with those in 102 healthy Koreans. Two polymorphisms (P56L, T174 M) in Koreans were found in the open reading frame (ORF) of PRND. One heterozygote of P56L was observed in normal controls but not in sporadic CJD patients. A strong significant difference of PRND genotype frequency at codon 174 was found between the normal Korean population and various European populations. In contrast to results in the German population, our study did not show a significant difference in PRND genotype or allele frequency at codon 174 between sporadic CJD and normal controls. This was the first genetic association study of the ORF of PRND in an Asian CJD population.
authors.affiliation: Ilsong Institute of Life Science, Hallym University, Ilsong Building, 1605-4 Gwanyang-dong, Dongan-gu, Anyang, Kyounggi-do, 431-060, South Korea.
authors.forename: Byung-Hoon
authors.initials: BH
authors.lastname: Jeong
authors.affiliation: Ilsong Institute of Life Science, Hallym University, Ilsong Building, 1605-4 Gwanyang-dong, Dongan-gu, Anyang, Kyounggi-do, 431-060, South Korea.
authors.forename: Nam-Ho
authors.initials: NH
authors.lastname: Kim
authors.affiliation: New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY, 10314, USA.
authors.forename: Jae-Il
authors.initials: JI
authors.lastname: Kim
authors.affiliation: New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY, 10314, USA.
authors.forename: Richard I
authors.initials: RI
authors.lastname: Carp
authors.affiliation: Ilsong Institute of Life Science, Hallym University, Ilsong Building, 1605-4 Gwanyang-dong, Dongan-gu, Anyang, Kyounggi-do, 431-060, South Korea. yskim@hallym.ac.kr.
authors.forename: Yong-Sun
authors.initials: YS
authors.lastname: Kim
mesh_terms: D007562:Creutzfeldt-Jakob Syndrome / Q000235:genetics*; D017931:DNA Primers; D058851:GPI-Linked Proteins; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007723:Korea; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011328:Prions / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D017931:DNA Primers; D058851:GPI-Linked Proteins; C501125:PRND protein, human; D011328:Prions