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• W2952845963 abstract "Single nucleotide variants (SNVs) within and surrounding the complement receptor 1 (CR1) gene show some of the strongest genome-wide association signals with late-onset Alzheimer's disease. Some studies have suggested that this association signal is due to a duplication allele (CR1-B) of a low copy repeat (LCR) within the CR1 gene, which increases the number of complement C3b/C4b-binding sites in the mature receptor. In this study, we develop a triplex paralogue ratio test assay for CR1 LCR copy number allowing large numbers of samples to be typed with a limited amount of DNA. We also develop a CR1-B allele-specific PCR based on the junction generated by an historical non-allelic homologous recombination event between CR1 LCRs. We use these methods to genotype CR1 and measure CR1-B allele frequency in both late-onset and early-onset cases and unaffected controls from the United Kingdom. Our data support an association of late-onset Alzheimer's disease with the CR1-B allele, and confirm that this allele occurs most frequently on the risk haplotype defined by SNV alleles. Furthermore, regression models incorporating CR1-B genotype provide a better fit to our data compared to incorporating the SNV-defined risk haplotype, supporting the CR1-B allele as the variant underlying the increased risk of late-onset Alzheimer's disease." @default.
• W2952845963 created "2019-06-27" @default.
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• W2952845963 date "2018-04-01" @default.
• W2952845963 modified "2023-10-11" @default.
• W2952845963 title "Complement receptor 1 gene (CR1) intragenic duplication and risk of Alzheimer’s disease" @default.
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• W2952845963 doi "https://doi.org/10.1007/s00439-018-1883-2" @default.
• W2952845963 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5937907" @default.
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• W2952845963 hasPublicationYear "2018" @default.
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