<it>ABCB1 </it>genotypes and haplotypes in patients with dementia and age-matched non-demented control patients

<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 chan...

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Main Authors: Frankfort Suzanne V, Doodeman Valerie D, Bakker Remco, Tulner Linda R, van Campen Jos PCM, Smits Paul HM, Beijnen Jos H
Format: Article
Language:English
Published: BMC 2006-09-01
Series:Molecular Neurodegeneration
Online Access:http://www.molecularneurodegeneration.com/content/1/1/13
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author Frankfort Suzanne V
Doodeman Valerie D
Bakker Remco
Tulner Linda R
van Campen Jos PCM
Smits Paul HM
Beijnen Jos H
author_facet Frankfort Suzanne V
Doodeman Valerie D
Bakker Remco
Tulner Linda R
van Campen Jos PCM
Smits Paul HM
Beijnen Jos H
author_sort Frankfort Suzanne V
collection DOAJ
description <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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spelling doaj.art-16d3d435c7774ad68246f993e848fbc42022-12-22T01:22:05ZengBMCMolecular Neurodegeneration1750-13262006-09-01111310.1186/1750-1326-1-13<it>ABCB1 </it>genotypes and haplotypes in patients with dementia and age-matched non-demented control patientsFrankfort Suzanne VDoodeman Valerie DBakker RemcoTulner Linda Rvan Campen Jos PCMSmits Paul HMBeijnen Jos H<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>http://www.molecularneurodegeneration.com/content/1/1/13
spellingShingle Frankfort Suzanne V
Doodeman Valerie D
Bakker Remco
Tulner Linda R
van Campen Jos PCM
Smits Paul HM
Beijnen Jos H
<it>ABCB1 </it>genotypes and haplotypes in patients with dementia and age-matched non-demented control patients
Molecular Neurodegeneration
title <it>ABCB1 </it>genotypes and haplotypes in patients with dementia and age-matched non-demented control patients
title_full <it>ABCB1 </it>genotypes and haplotypes in patients with dementia and age-matched non-demented control patients
title_fullStr <it>ABCB1 </it>genotypes and haplotypes in patients with dementia and age-matched non-demented control patients
title_full_unstemmed <it>ABCB1 </it>genotypes and haplotypes in patients with dementia and age-matched non-demented control patients
title_short <it>ABCB1 </it>genotypes and haplotypes in patients with dementia and age-matched non-demented control patients
title_sort it abcb1 it genotypes and haplotypes in patients with dementia and age matched non demented control patients
url http://www.molecularneurodegeneration.com/content/1/1/13
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