title: Dinucleotide repeat polymorphisms in the neprilysin gene are not associated with sporadic Alzheimer's disease.
abstract: In the pathological process of Alzheimer's disease (AD), deposition of amyloid beta-peptide (A beta) in the brain parenchyma plays an important role. Neprilysin (NEP), a neutral endopeptidase, degrades A beta, and it is postulated that decreased NEP activity may contribute to the development of AD by promoting the accumulation of A beta. The human NEP gene possesses four dinucleotide repeat polymorphisms, and it is possible that these polymorphisms regulate the NEP expression levels and influence the pathological cascade of AD. Therefore, we investigated the association of these polymorphisms with AD. We performed genotyping of each polymorphism in 201 Japanese sporadic AD patients and 208 Japanese controls. There were no significant differences between the AD and control groups in allele frequencies of each polymorphism. We conclude that these polymorphisms in the NEP gene do not contribute to genetic risk factors for sporadic AD.
authors.affiliation: Third Department of Internal Medicine, Hiroshima University School of Medicine, 1-2-3 Kasumi, Minami-ku, Hiroshima 734-8551, Japan.
authors.forename: Masaya
authors.initials: M
authors.lastname: Oda
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Morino
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Maruyama
authors.forename: Hideo
authors.initials: H
authors.lastname: Terasawa
authors.forename: Yuishin
authors.initials: Y
authors.lastname: Izumi
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Torii
authors.forename: Ken
authors.initials: K
authors.lastname: Sasaki
authors.forename: Shigenobu
authors.initials: S
authors.lastname: Nakamura
authors.forename: Hideshi
authors.initials: H
authors.lastname: Kawakami
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000235:genetics*; D016229:Amyloid beta-Peptides / Q000378:metabolism*; D053327:Apolipoprotein E4; D001057:Apolipoproteins E / Q000235:genetics; D001921:Brain / Q000378:metabolism*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D004252:DNA Mutational Analysis; D018900:Dinucleotide Repeats / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D015260:Neprilysin / Q000235:genetics* / Q000378:metabolism; D011110:Polymorphism, Genetic / Q000235:genetics*
chemical_list: D016229:Amyloid beta-Peptides; D053327:Apolipoprotein E4; D001057:Apolipoproteins E; D015260:Neprilysin