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No association of prion protein gene polymorphisms with Alzheimer's disease in Korean population


The polymorphism at codon 129 (M129V) of the human prion protein gene (PRNP) is a known risk factor for Creutzfeldt-Jakob disease (CJD) in Caucasians. There are few reports of this polymorphism's effect on memory and on the risk of Alzheimer's disease (AD). The M129V genotype distributions among Asians are very different from Caucasians. Another polymorphism, codon 219 (E219K) is not found in Caucasians. We investigated two polymorphisms of PRNP, M129V (rs1799990) and E219K (rs1800014) in 297 Korean AD patients and 217 healthy subjects. The analysis of the genotype and allele distributions showed no significant difference between the AD patients and the controls in both polymorphisms (P=0.19 genotype, P=0.51 allele for M129V; P=0.64 genotype, P=0.50 allele for E219K). Also, the PRNP polymorphisms were not significantly associated with AD when the populations were stratified for the presence or absence of apolipoprotein E-e4 (ApoE-ε4) allele. These results suggest that the PRNP genetic variants are not associated with the risk for AD in Korean population.

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This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Ahn, K., Kim, E., Kwon, YA. et al. No association of prion protein gene polymorphisms with Alzheimer's disease in Korean population. Exp Mol Med 38, 727–731 (2006).

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  • Alzheimer disease
  • apolipoproteins E
  • prion diseases
  • Creutzfeldt-Jakob syndrome
  • polymorphism, single nucleotide
  • PRNP protein, human


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