J. Thome et al., Polymorphisms of the human apolipoprotein E promoter and bleomycin hydrolase gene: risk factors for Alzheimer's dementia?, NEUROSCI L, 274(1), 1999, pp. 37-40
In addition to the apolipoprotein E (ApoE) tri-allele polymorphism, genetic
variants of the apolipoprotein E promoter (-491A/T) and the bleomycin hydr
olase (BH-PEN) gene have also been proposed as genetic risk factors for Alz
heimer's dementia (AD). Since reports about the relevance of these polymorp
hisms for the pathogenesis of AD have been contradictory we performed an as
sociation study with some modifications. First, the control group in this s
tudy was made up of non-demented psychiatric inpatients, rather than health
y subjects. This procedure allows the specificity of the relationship betwe
en a given genotype and AD las opposed to other psychiatric disorders) to b
e determined. Second, as an alternative to preexisting relatively time cons
uming techniques, BH-PEN polymorphism was determined using a simplified met
hod based on PCR genotyping. We found a significant linkage disequilibrium
between the -491A/T and ApoE polymorphisms. However, no direct association
was observed between the -491A/T or BH-PEN polymorphism and AD. (C) 1999 El
sevier Science Ireland Ltd. All rights reserved.