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
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.