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Int J Mol Epidemiol Genet 2010;1(1):47-52

Original Article
Evaluation of Neprilysin sequence variation in relation to CSF β-Amyloid
Levels and Alzheimer disease risk

Mia E. Blomqvist, Shane McCarthy, Kaj Blennow, Björn Andersson, Jonathan A. Prince

Department of Cell and Molecular Biology, Karolinska Institute, Stockholm, Sweden; Sebat Laboratory, Cold Spring Harbor
Laboratory, Cold Spring Harbor, NY, USA; Department of Clinical Neuroscience and Transfusion Medicine, University of
Göteborg, Sahlgren's University Hospital, Gothenburg, Sweden; Department of Medical Epidemiology and Biostatistics,
Karolinska Institute, Stockholm, Sweden

Received July 20, 2009; accepted July, 2009; available online July, 2009

Abstract: Neprilysin (NEP) is a principal peptidase involved in the degradation of β-amyloid (Aβ), 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 Aβ1-42. 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. (IJMEG907002).

Key words: Neprilysin, β-Amyloid, Alzheimer disease, MME, Metalloendopeptidase, Polymorphism

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Address all correspondence to:
Dr. Jonathan A. Prince
Department of Cell and Molecular Biology
Karolinska Institute
Berzelius väg 35
S-171 77 Stockholm, Sweden
Phone: +46 (0)8 5248 6274
Fax: +46 (0)8 324 826
Jonathan.Prince@ ki.se