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Chunk #21 — 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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PVR and TOMM40 also have further evidence of brain–specific eQTL and methylation QTLs (mQTLs). Conditional analysis also indicated that there are potentially multiple independent signals in the APOE locus. Pathway analysis in the 2018 and 2019 GWAX7,8 and the 2019 GWAS9 implicated pathways related to lipid traits, tau, and APP or amyloid β. The 2018 GWAX8 and 2019 GWAS9 also implicated immune response pathways. These results remained significant even after removal9 or conditioning of APOE.8