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- W4246264217 abstract "Linkage studies have suggested a susceptibility locus for late–onset Alzheimer's disease (LOAD) on chromosome 21. A functional candidate gene in this region is the amyloid precursor protein (APP). Previously, coding mutations in APP have been associated with early onset Alzheimer's disease (EOAD). Three copies of APP is associated with AD pathology in Down's Syndrome and in EOAD, suggesting that overexpression of APP may be a risk factor for LOAD. Although APP is a strong functional and positional candidate, to date there has been no thorough investigation using a dense map of SNPs across the APP gene. In order to thoroughly investigate the role of APP in the risk of LOAD, we genotyped 45 SNPs, spanning 300 kb in and around APP. 45 SNPs were genotyped in a LOAD case–control series (270 cases, 270 controls from the WashU–ADRC) and a case–control series generated by selecting one case per family from our genetic linkage sample and matching them to healthy controls (351 cases and 353 controls). The SNPs were chosen either from the International Haplotyping Project (Hap Map) database or dbSNP (NCBI). We tested 45 SNPs, which tag the major haplotypes in 7 LD blocks spanning the entire APP gene. None of the SNPs showed significant association in allelic or genotypic tests, even after stratification for absence/presence of APOE ϵ4. These SNPs included four SNPs, which previously were reported by deCode to be associated with AD risk. We were not able to replicate their results. The haplotype analyses showed some interesting results in block 7, which have to be confirmed. These results suggest that common variation in the APP gene is not a significant risk factor for LOAD. However, our cases met diagnostic criteria for probable or definite AD. Based on the recent observation of strokes and dementia in families with APP duplications, overexpression of APP might be associated with phenotypes that would have been excluded from our study." @default.
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- W4246264217 date "2006-07-01" @default.
- W4246264217 modified "2023-10-16" @default.
- W4246264217 title "P1-341: Are common variants in APP risk factors for late-onset Alzheimer's disease?" @default.
- W4246264217 doi "https://doi.org/10.1016/j.jalz.2006.05.719" @default.
- W4246264217 hasPublicationYear "2006" @default.
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