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

被引：11

作者：

Ahn, Kyungsook

Kim, Eunkyung

Kwon, Young-A

Kim, Doh Kwan

Lee, Jong-Eun

Jo, Sangmee Ahn ^{[1
]}

机构：

[1] NIH, Dept Biomed Sci, Seoul 122701, South Korea

[2] NIH, Biomed Brain Res Ctr, Seoul 122701, South Korea

[3] Sungkyunkwan Univ, Dept Psychiat, Sch Med, Samsung Med Ctr, Seoul 135710, South Korea

[4] DNA Link Inc, Seoul 120110, South Korea

来源：

EXPERIMENTAL AND MOLECULAR MEDICINE | 2006年 / 38卷 / 06期

关键词：

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

D O I：

10.1038/emm.2006.85

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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-epsilon 4 (ApoE-epsilon 4) allele. These results suggest that the PRNP genetic variants are not associated with the risk for AD in Korean population.

引用

页码：727 / 731

页数：5

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