Association between coding variability in the LRP gene and the risk of late-onset Alzheimer's disease

Citation
F. Wavrant-devrieze et al., Association between coding variability in the LRP gene and the risk of late-onset Alzheimer's disease, HUM GENET, 104(5), 1999, pp. 432-434
Citations number
20
Categorie Soggetti
Molecular Biology & Genetics
Journal title
HUMAN GENETICS
ISSN journal
03406717 → ACNP
Volume
104
Issue
5
Year of publication
1999
Pages
432 - 434
Database
ISI
SICI code
0340-6717(199905)104:5<432:ABCVIT>2.0.ZU;2-5
Abstract
We have sequenced the entire (89 exons) open reading frame of the LRP gene in 12 cases of Alzheimer's disease (AD) from Northern France. We have found no novel changes but confirm the occurrence of a polymorphism in exon 6 of the gene (A216V). This polymorphism is rare (2.8% of controls) and is in l inkage equilibrium with previously reported polymorphisms. The V216 allele is negatively associated with the disease in a large case-controlled series . These data suggest that the LRP receptor may be involved in the pathobiol ogy of AD, but the association that we report here cannot explain the previ ously reported genetic data implicating the LRP gene in AD. if the LRP gene is a major site of genetic variability leading to AD, there must be other biologically relevant variability in promoter or other regulatory elements of this large gene.