Polymorphisms in the
prion protein gene (PRNP) can affect the susceptibility of humans to
prion diseases. Recently, aside from PRNP, single nucleotide polymorphisms (SNPs) of two candidate genes for susceptibility to human
prion diseases have been identified by human genome-wide association studies (GWAS) in the British population. One SNP of
retinoic acid receptor beta (RARB), which is correlated with
prion disease incubation time in mice, was associated with human
prion diseases such as variant and iatrogenic CJD in the British population. The other SNP of the gene that encodes SCG10 (STMN2), which is related to clinical onset of
sporadic CJD, was also associated with variant CJD and
kuru. In order to investigate whether two polymorphisms located in upstream of RARB and STMN2 are associated with
sporadic CJD in the Korean population, we compared genotype and allele frequencies of these polymorphisms in 217
sporadic CJD patients and 216 healthy Koreans. The genotype distribution and allele frequencies in upstream of the RARB and STMN2 polymorphisms were not significantly different between healthy controls and Korean
sporadic CJD patients. This finding indicates that the two SNPs are not correlated with
genetic susceptibility to
sporadic CJD in the Korean population. This is the first genetic association study of RARB and STMN2 with
sporadic CJD in an Asian population.