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• W2080882681 abstract "<h3>Objectives:</h3> More than 30 different rare mutations, including copy number variants (CNVs), in the amyloid precursor protein gene (<i>APP</i>) cause early-onset familial Alzheimer disease (EOFAD), whereas the contribution of common <i>APP</i> variants to disease risk remains controversial. In this study we systematically assessed the role of both rare and common <i>APP</i> DNA variants in Alzheimer disease (AD) families. <h3>Methods:</h3> Families with EOFAD genetically linked to the <i>APP</i> region were screened for missense mutations and locus duplications of <i>APP</i>. Further, using genome-wide DNA microarray data, we examined the <i>APP</i> locus for CNVs in a total of 797 additional early- and late-onset AD pedigrees. Finally, 423 single nucleotide polymorphisms (SNPs) in the <i>APP</i> locus, including 2 promoter polymorphisms previously associated with AD risk, were tested in up to 4,200 individuals from multiplex AD families. <h3>Results:</h3> Analyses of 8 21q21-linked families revealed one family carrying a nonsynonymous mutation in exon 17 (Val717Leu) and another family with a partially penetrant 3.5-Mb locus duplication encompassing <i>APP</i>. CNV analysis in the <i>APP</i> locus revealed an additional family carrying a fully penetrant 380-kb duplication, merely spanning <i>APP</i>. Last, contrary to previous reports, association analyses of more than 400 different SNPs in or near <i>APP</i> failed to show significant effects on AD risk. <h3>Conclusion:</h3> Our study shows that <i>APP</i> mutations and locus duplications are a very rare cause of EOFAD and that the contribution of common <i>APP</i> variants to AD susceptibility is insignificant. Furthermore, duplications of <i>APP</i> may not be fully penetrant, possibly indicating the existence of hitherto unknown protective genetic factors." @default.
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• W2080882681 date "2012-04-04" @default.
• W2080882681 modified "2023-10-10" @default.
• W2080882681 title "Role of common and rare APP DNA sequence variants in Alzheimer disease" @default.
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• W2080882681 doi "https://doi.org/10.1212/wnl.0b013e3182515972" @default.
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