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- Title
Mutation Screening and Association Study of the Neprilysin Gene in Sporadic Alzheimer's Disease in Chinese Persons.
- Authors
Jiajun Shi; Sizhong Zhang; Mouni Tang; Cui Ma; Jinghua Zhao; Tao Li; Xiehe Liu; Yan Sun; Yangbo Guo; Haiying Han; Yongxin Ma; Zhenhuan Zhao; Smith, James R.
- Abstract
Neprilysin has been reported to be a major beta-amyloid peptide (Aβ)-degrading enzyme. The decreased expression and activity of it may contribute to the development of Alzheimer's disease by promoting the accumulation of Aβ. We used denaturing high-performance liquid chromatography to screen the neprilysin gene (NEP) for single nucleotide polymorphisms (SNPs) in 257 Chinese sporadic Alzheimer's disease patients and 242 cognitive normal controls. As a result, eight novel and one known SNP were identified. Three of them, -204G→C in the promoter region, IVS17-294C→T, and IVS22+36C→A showed a significant association with Alzheimer's disease (p = .006, .017, and .003, respectively). Subsequent haplotype analysis provided further evidence of the association (global p < .0001 for the three SNPs mentioned above, and global p < .01 for the eight SNPs with rare allele frequency >1%). These findings indicate that genetic variations within or extremely close to NEP might influence the susceptibility to Alzheimer's disease in Chinese persons.
- Subjects
AMYLOID beta-protein; ALZHEIMER'S disease; PEPTIDES; GENES; COGNITION; GENE expression
- Publication
Journals of Gerontology Series A: Biological Sciences & Medical Sciences, 2005, Vol 60, Issue 3, p301
- ISSN
1079-5006
- Publication type
Article
- DOI
10.1093/gerona/60.3.301