朊病毒蛋白密码子129多态性与阿尔茨海默病风险

Prion protein codon 129 polymorphism and risk of Alzheimer disease.

作者信息

Riemenschneider M, Klopp N, Xiang W, Wagenpfeil S, Vollmert C, Müller U, Förstl H, Illig T, Kretzschmar H, Kurz A

机构信息

Neurochemistry and Neurogenetics Laboratory, Department of Psychiatry and Psychotherapy, Technische Universität München, Ismaningerstr. 22, 81675 Munich, Germany.

出版信息

Neurology. 2004 Jul 27;63(2):364-6. doi: 10.1212/01.wnl.0000130198.72589.69.

DOI:10.1212/01.wnl.0000130198.72589.69

PMID:15277640

Abstract

The authors investigated the PRNP Met129Val polymorphism in 1,393 subjects including 482 patients with Alzheimer disease (AD) and two independent control groups. In patients, PRNP Met homozygosity conferred increasing risk with decreasing age at onset (onset: 61 to 70 years, n = 151, p = 0.02, odds ratio [OR] = 1.72, 95% CI = 1.2 to 2.53; onset: < or =60 years, n = 138, p = 0.013, OR = 1.92, 95% CI = 1.31 to 2.87), whereas no association was obtained in patients with onset at older than 70 years. The results suggest involvement of the prion protein in the pathogenesis of early-onset AD.

摘要

作者对1393名受试者进行了朊蛋白基因（PRNP）第129密码子甲硫氨酸（Met）/缬氨酸（Val）多态性研究，其中包括482例阿尔茨海默病（AD）患者和两个独立对照组。在患者中，PRNP基因Met纯合子随着发病年龄降低风险增加（发病年龄：61至70岁，n = 151，p = 0.02，比值比[OR]=1.72，95%置信区间[CI]=1.2至2.53；发病年龄：≤60岁，n = 138，p = 0.013，OR = 1.92，95% CI = 1.31至2.87），而70岁以上发病的患者未发现相关性。结果提示朊蛋白参与早发型AD的发病机制。