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Chunk #2 — Introduction

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Interpretation of risk loci from genome-wide association studies of Alzheimer's disease.
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In 2018 and 2019, three new GWAS in Alzheimer’s disease have been published, expanding the number of known genome–wide risk loci to 40.7–9 In this Rapid Review, we summarise discovered loci, emphasising that the specific functional or causal gene in each locus is often unknown. To ensure genomic risk loci and lead single nucleotide polymorphisms (SNPs) are consistent across studies, we used the default settings of Functional Mapping and Annotation10 on published GWAS summary statistics, then annotated loci with cytogenetic band using SNPnexus (panel 1).11 Because the lead SNP in each locus varies across studies, we provide a unified list of SNPs associated with Alzheimer’s disease across GWAS, highlighting genetic correlations to emphasise when lead SNPs are equivalent or different. Finally, we discuss the strength of GWAS evidence at different loci for Alzheimer’s disease, and necessary steps to assign a likely functional gene.