Article
The -48 C/T polymorphism in the presenilin 1 promoter is associated with an increased risk of developing Alzheimer's disease and an increased Abeta load in brain.
Journal of medical genetics - 1 Jun 2001
Lambert J C, Mann D M, Harris J M, Chartier-Harlin M C, Cumming A, Coates J, Lemmon H, StClair D, Iwatsubo T, Lendon C
Abstract excerpt
Mutations in the presenilin 1 gene (PS1) account for the majority of early onset, familial, autosomal dominant forms of Alzheimer's disease (AD), whereas its role in other late onset forms of AD remains unclear. A -48 C/T polymorphism in the PS1 promoter has been associated with an increased genetic risk in early onset complex AD and moreover has been shown to influence the expression of the PS1 gene. This raises...
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