Exp Mol Med.  2006 Dec;38(6):727-731.

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

• Ahn K
• Kim E
• Kwon YA
• Kim DK
• Lee JE
• Jo SA

Abstract

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-epsilon4) allele. These results suggest that the PRNP genetic variants are not associated with the risk for AD in Korean population.

Keyword

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

MeSH Terms

Prions/*genetics
Polymorphism, Genetic/*genetics
Male
Korea/epidemiology
Humans
Genotype
Genetic Predisposition to Disease/genetics
Female
Codon/genetics
Apolipoproteins E/genetics
Alzheimer Disease/*epidemiology/*genetics
Alleles
Aged