Abstract
We genotyped five polymorphisms, including two polymorphisms with known effects on transcriptional activity, in a large cohort of 427 Alzheimer disease (AD) cases and 472 control subjects. An association between rs463946 (-3102 G/C) and AD was found and was confirmed in a replication sample of a similar size. By contrast, analysis of three recently described rare mutations influencing APP transcription did not confirm their association with AD risk.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Aged
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Alzheimer Disease / epidemiology*
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Alzheimer Disease / genetics*
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Amyloid beta-Protein Precursor / genetics*
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Biomarkers, Tumor / genetics
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DNA Mutational Analysis / methods
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Female
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France / epidemiology
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Genetic Predisposition to Disease / epidemiology
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Genetic Predisposition to Disease / genetics
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Genetic Testing / methods*
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Genetic Variation / genetics*
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Heterozygote
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Humans
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Incidence
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Male
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Middle Aged
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Polymorphism, Single Nucleotide / genetics*
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Promoter Regions, Genetic
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Protease Nexins
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Receptors, Cell Surface / genetics*
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Risk Assessment / methods*
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Risk Factors
Substances
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APP protein, human
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Amyloid beta-Protein Precursor
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Biomarkers, Tumor
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Protease Nexins
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Receptors, Cell Surface