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Chunk #19 — Introduction — From loci to genes

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Interpretation of risk loci from genome-wide association studies of Alzheimer's disease.
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gene–based association analysis that estimated the aggregate effect of all SNPs in a gene on a trait to identify genes that were significantly associated with Alzheimer’s disease. Finally, they further prioritised genes for which the functionally annotated SNPs affected gene expression, methylation, or histone acetylation in brain tissue. In all three of the GWAS and GWAX studies7–9 the investigators also did gene–set analyses to identify biological pathways that were over–represented among genes identified via gene–based associations analysis.