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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Biechele, Travis Sáez, Katia Myers, Amanda Henríquez, Juan P. Avila, Miguel E. Morris, Chris M. Hock, Christoph Papassotiropoulos, Andreas Wollmer, M. Axel De Ferrari, Giancarlo V. Hardy, John Zhao, Alice Nitsch, Roger M. Moon, Randall T. Major, Michael B. Wavrant De-vrieze, Fabienne |
| Description | Author Affiliation: De Ferrari GV ( Howard Hughes Medical Institute, University of Washington School of Medicine, Seattle, WA 98195, USA. gdeferrari@udec.cl); |
| Abstract | Genome-wide linkage studies have defined a broad susceptibility region for late-onset Alzheimer's disease on chromosome 12, which contains the Low-Density Lipoprotein Receptor-Related Protein 6 (LRP6) gene, a coreceptor for Wnt signaling. Here, we report the association between common LRP6 variants and late-onset Alzheimer's disease in a multicenter case-control series as well as in a large family-based series ascertained by the National Institute of Mental Health-National Institute on Aging Genetics Initiative. As shown in the genome-wide linkage studies, our association depends mainly on apolipoprotein E-epsilon4 (APOE-epsilon4) carrier status. Haplotype tagging single-nucleotide polymorphisms (SNPs) with a set of seven allelic variants of LRP6 identified a putative risk haplotype, which includes a highly conserved coding sequence SNP: Ile-1062 --> Val. Functional analyses revealed that the associated allele Val-1062, an allele previously linked to low bone mass, has decreased beta-catenin signaling in HEK293T cells. Our study unveils a genetic relationship between LRP6 and APOE and supports the hypothesis that altered Wnt/beta-catenin signaling may be involved in this neurodegenerative disease. |
| ISSN | 00278424 |
| e-ISSN | 10916490 |
| Journal | Proceedings of the National Academy of Sciences of the United States of America |
| Issue Number | 22 |
| Volume Number | 104 |
| Language | English |
| Publisher | National Academy of Sciences |
| Publisher Date | 2007-05-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Aging Genetics Alzheimer Disease Metabolism LDL-Receptor Related Proteins Polymorphism, Single Nucleotide Age Of Onset Alleles Amino Acid Sequence Animals Cell Line Cells, Cultured Chromosomes, Human, Pair 12 Conserved Sequence Gene Expression Regulation Genes, Reporter Haplotypes Hippocampus Chemistry Low Density Lipoprotein Receptor-Related Protein-6 Molecular Sequence Data Sequence Alignment Valine Beta Catenin Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Multidisciplinary |
| Content Type | Text |
| Resource Type | Article |
| Subject | Multidisciplinary |
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