PRNP 1368 polymorphism is not associated with sporadic Creutzfeldt-Jakob disease in the Korean population

Background: Human prion protein gene (PRNP) is considered a critical and fundamental gene in determining the incidence of human prion diseases. Codons 129 and 219 play an important role in the susceptibility to sporadic Creutzfeldt-Jakob disease (CJD). An association between sporadic CJD and the polymorphism (PRNP 1368) in an upstream of PRNP exon 1 has been reported in the British and German populations, but study in the Dutch population has failed to confirm an association. Purpose: To investigate whether the PRNP 1368 polymorphism is associated with sporadic CJD in the Korean population. Methods: We compared the genotype and allele frequencies of PRNP 1368 polymorphism in 171 sporadic CJD patients with those in 212 healthy Koreans. Result and conclusion: A significant difference of genotype and allele frequencies at PRNP 1368 was found between the normal Korean population and various European populations. In contrast to the results in the British and German populations, our study does not show a significant difference in genotype (P = 0.2763) and allele (P = 0.3750) frequencies of PRNP 1368 between sporadic CJD and normal controls.