Evaluation of neprilysin sequence variation in relation to CSF beta-Amyloid levels and Alzheimer disease risk

被引：0

作者：

Blomqvist, Mia E. ^{[1
]}

McCarthy, Shane ^{[2
]}

Blennow, Kaj ^{[3
]}

Andersson, Bjorn ^{[1
]}

Prince, Jonathan A. ^{[4
]}

机构：

[1] Karolinska Inst, Dept Cell & Mol Biol, Berzelius Vag 35, S-17177 Stockholm, Sweden

[2] Cold Spring Harbor Lab, Sebat Lab, Cold Spring Harbor, NY 11724 USA

[3] Univ Goteborg, Sahlgrens Univ Hosp, Dept Clin Neurosci & Transfus Med, Gothenburg, Sweden

[4] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden

来源：

INTERNATIONAL JOURNAL OF MOLECULAR EPIDEMIOLOGY AND GENETICS | 2010年 / 1卷 / 01期

关键词：

Neprilysin; beta-Amyloid; Alzheimer disease; MME; Metalloendopeptidase; Polymorphism;

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Neprilysin (NEP) is a principal peptidase involved in the degradation of beta-amyloid (A.), and as such its encoding gene (MME) has been the target of numerous genetic association studies on Alzheimer disease. Here, in order to attempt replication of previous findings we have investigated several single nucleotide polymorphisms (SNPs) that have been claimed to be associated with AD. A key feature of the present study is the complementary investigation of both AD risk and quantitative measures of AD severity, including cerebrospinal (CSF) fluid levels of A beta(1-42). In contrast to the effects of APOE, none of these measures are detectably influenced by genetic polymorphism in the MME region. We thus, fail to find support for previous results suggesting that MME impacts AD.

引用

页码：47 / 52

页数：6

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