Genetic variants ofABCA1 modify Alzheimer disease risk and quantitative traits related to ?-amyloid metabolism
- 10 March 2004
- journal article
- research article
- Published by Hindawi Limited in Human Mutation
- Vol. 23 (4) , 358-367
- https://doi.org/10.1002/humu.20012
Abstract
Linkage studies have provided evidence that one or more loci on chromosome 9q influence Alzheimer disease (AD). The gene encoding the ATP‐binding cassette A1 transporter (ABCA1) resides within proximity of previously identified linkage peaks and represents a plausible biological candidate for AD due to its central role in cellular lipid homeostasis. Several single nucleotide polymorphisms (SNPs) spanning ABCA1 have been genotyped and haplotype‐based association analyses performed in four independent case‐control samples, consisting of over 1,750 individuals from three European populations representing both early and late‐onset AD. Prominent effects were observed for a common (H2) and rarer haplotype (H5) that were enriched in AD cases across studied populations (odds ratio [OR] 1.59, 95% confidence interval [CI] 1.36–1.82; PABCA1 contribute to variable cerebrospinal fluid tau and beta amyloid (Aβ42) protein levels, and brain Aβ load. Results indicate that variants of ABCA1 may affect the risk of AD, providing further support for a genetic link between AD and cholesterol metabolism. Hum Mutat 23:358–367, 2004Keywords
This publication has 44 references indexed in Scilit:
- APOEɛ4 influences the pathological phenotype of Alzheimer's disease by favouring cerebrovascular over parenchymal accumulation of Aβ proteinNeuropathology and Applied Neurobiology, 2003
- Results of a high-resolution genome screen of 437 Alzheimer's Disease familiesHuman Molecular Genetics, 2003
- β-Amyloid (Aβ) protein in cerebrospinal fluid as a biomarker for Alzheimer’s diseasePeptides, 2002
- Of replications and refutations: The status of Alzheimer’s disease genetic researchCurrent Neurology and Neuroscience Reports, 2001
- Evidence for Genetic Linkage of Alzheimer's Disease to Chromosome 10qScience, 2000
- Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiencyNature Genetics, 1999
- The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier diseaseNature Genetics, 1999
- Cerebrospinal Fluid β-Amyloid(1-42) in Alzheimer DiseaseArchives of Neurology, 1999
- tau protein in cerebrospinal fluidMolecular and Chemical Neuropathology, 1995
- Histopathological criteria for progressive dementia disorders: clinical-pathological correlation and classification by multivariate data analysisActa Neuropathologica, 1987