1. ¹Ilsong Institute of Life Science, Hallym University, Ilsong Building, 1605-4 Gwanyang-dong, Dongan-gu, Anyang, Kyounggi-do, 431-060, South Korea
2. ²New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA

Correspondence: Yong-Sun Kim, Ilsong Institute of Life Science, Hallym University, Ilsong Building, 1605-4 Gwanyang-dong, Dongan-gu, Anyang, Kyounggi-do, 431-060, South Korea. Fax: +82-31-3883427. E-mail: yskim@hallym.ac.kr

Received 20 December 2004; Accepted 31 March 2005; Published online 3 June 2005.

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.