Summary: | <p>Abstract</p> <p>Amyloid β is an <it>in vitro </it>substrate for P-glycoprotein (P-gp), an efflux pump at the blood brain barrier (BBB). The Multi Drug Resistance (<it>ABCB1</it>) gene, encoding for P-gp, is highly polymorphic and this may result in a changed function of P-gp and may possibly interfere with the pathogenesis of Alzheimer's disease. This study investigates to what extent <it>ABCB1 </it>Single Nucleotide Polymorphisms (SNPs; C1236T in exon 12, G2677T/A in exon 21 and C3435T in exon 26) and inferred haplotypes exist in an elderly population and if these SNPs and haplotypes differ between patients with dementia and age-matched non-demented control patients. <it>ABCB1 </it>genotype, allele and haplotype frequencies were neither significantly different between patients with dementia and age-matched controls, nor between subgroups of different types of dementia nor age-matched controls. This study shows <it>ABCB1 </it>genotype frequencies to be comparable with described younger populations. To our knowledge this is the first study on <it>ABCB1 </it>genotypes in dementia. <it>ABCB1 </it>genotypes are presently not useful as a biomarker for dementia, as they were not significantly different between demented patients and age-matched control subjects.</p>
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