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

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 polym orphism s w ere not significantly associated with AD when the populations were stratified for the presence or absence of apolipoprotein E-ε4 (ApoE-ε4) allele. These results suggest that the PRNP genetic variants are not associated with the risk for AD in Korean population.

Lack of Association betweenPRNPM129V Polymorphism and Multiple Sclerosis, Mild Cognitive Impairment, Alcoholism and Schizophrenia in a Korean Population

“…Similarly, findings on the influence of PRNP*129Val in the risk of AD, another neurodegenerative disorder, have been well defined despite ethnic background discrepancies. Previous studies have reported that this variant is significantly associated with AD in Dutch [13], German [14], and Polish populations [15], in contrast to the findings from studies involving Korean [16], Spanish [17], and Italian [18] populations. Furthermore, it has been known that homozygosity for codon 129 (M or V allele) is connected with early-onset AD [13,17].…”

Codon 129 polymorphism of prion protein gene in sporadic Alzheimer’s disease

“…A similar conclusion was reached in a Japanese study based on a large sample of AD patients where the genotypic analysis of codon 129 of the PRNP gene showed no association with either early-onset (EO) or late-onset (LO) form of the disease [13]. In two AD Korean samples the distribution of the polymorphic codon 129 as well as the 219 of the PRNP gene was no different from normal controls underlying contrasting evidences on this issue and confirming the important role related to ethnicity [14,15].…”

Association of BACE1 Gene Polymorphism with Alzheimer’s Disease in Asian Populations: Meta-Analysis Including Korean Samples

“…Two hundred and forty-eight Korean AD patients and 224 cognitively healthy control subjects were recruited from the Samsung Medical Center in Seoul and the Ansan cohort, respectively, as described previously [19] . The cognitive functions and memory impairment of controls were assessed using the Consortium to Establish a Registry for Alzheimer's Disease neuropsychological battery [20] .…”