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Article

Complement receptor 1 gene (CR1) intragenic duplication and risk of Alzheimer's disease.

Human genetics - 1 Apr 2018

Kucukkilic Ezgi, Brookes Keeley, Barber Imelda, Guetta-Baranes Tamar, Morgan Kevin, Hollox Edward J

Abstract excerpt

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...

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Identifiers

PMID: 29675612
DOI: 10.1007/s00439-018-1883-2
PMCID: PMC5937907

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