Association of the Neprilysin Gene with Susceptibility to Late-Onset Alzheimer’s Disease

Neprilysin (NEP), also known as neutral endopeptidase, enkephalinase, CD 10, and common acute lymphoblastic leukemia antigen, is a 97-kD protein. NEP can degrade amyloid β peptides, and its mRNA and protein levels are known to be reduced in the brains of patients with Alzheimer’s disease (AD), makin...

Full description

Saved in:
Bibliographic Details
Published in:Dementia and geriatric cognitive disorders 2004-01, Vol.17 (3), p.164-169
Main Authors: Sakai, Ayumu, Ujike, Hiroshi, Nakata, Kenji, Takehisa, Yasushi, Imamura, Takaki, Uchida, Naohiko, Kanzaki, Akihiro, Yamamoto, Mitsutoshi, Fujisawa, Yoshikatsu, Okumura, Kazuya, Kuroda, Shigetoshi
Format: Article
Language:English
Subjects:
Age of Onset
Aged
Alleles
Alzheimer Disease - genetics
Apolipoproteins E - genetics
Biological and medical sciences
Case-Control Studies
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
DNA - genetics
Down-Regulation - genetics
Female
Gene Frequency
Genetic Linkage - genetics
Genotype
Humans
Male
Medical sciences
Neprilysin - genetics
Neurology
Original Research Article
Polymorphism, Genetic - genetics
Polymorphism, Single Nucleotide - genetics
Promoter Regions, Genetic - genetics
Reverse Transcriptase Polymerase Chain Reaction
RNA, Messenger - biosynthesis
RNA, Messenger - genetics
Transcription, Genetic - genetics
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Neprilysin (NEP), also known as neutral endopeptidase, enkephalinase, CD 10, and common acute lymphoblastic leukemia antigen, is a 97-kD protein. NEP can degrade amyloid β peptides, and its mRNA and protein levels are known to be reduced in the brains of patients with Alzheimer’s disease (AD), making the NEP gene a substantial candidate for an AD risk factor. We examined the genetic association of three NEP polymorphisms, a GT-repeat polymorphism and two single nucleotide polymorphisms (SNPs, –1075A>G and –1284G>C) in its promoter region, with AD in a Japanese case-control sample (240 patients and 163 controls). The GT-repeat polymorphism, but not the SNPs, was significantly associated with late-onset AD (p = 0.0007). Our findings suggest that the GT-repeat polymorphism in the promoter region of the NEP gene or some other unknown polymorphisms, which are in a linkage disequilibrium, confer a susceptibility to late-onset AD.
ISSN:1420-8008
1421-9824
DOI:10.1159/000076351