Integration of Alzheimer’s disease genetics and myeloid genomics identifies disease risk regulatory elements and genes

• Published in: Nature communications Vol. 12; no. 1; pp. 1610 - 14
• Main Authors: Novikova, Gloriia, Kapoor, Manav, TCW, Julia, Abud, Edsel M., Efthymiou, Anastasia G., Chen, Steven X., Cheng, Haoxiang, Fullard, John F., Bendl, Jaroslav, Liu, Yiyuan, Roussos, Panos, Björkegren, Johan LM, Liu, Yunlong, Poon, Wayne W., Hao, Ke, Marcora, Edoardo, Goate, Alison M.
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 12.03.2021; Nature Publishing Group; Nature Portfolio
• Subjects: 631/114/2785; 631/208/191; 631/378/1689/1283; 631/378/371; Alleles; Alzheimer Disease - genetics; Alzheimer Disease - metabolism; Alzheimer's disease; Annotations; Datasets; Enhancers; Gene expression; Gene Expression Regulation; Gene mapping; Gene regulation; Genes; Genetic Predisposition to Disease - genetics; Genetics; Genome-wide association studies; Genome-Wide Association Study; Genomics; Health risks; Humanities and Social Sciences; Humans; Induced Pluripotent Stem Cells - metabolism; Loci; Macrophages; Microglia; Microglia - metabolism; Monocytes; multidisciplinary; Myeloid Cells; Neurodegenerative diseases; Nominations; Pathogenesis; Pluripotency; Regulatory sequences; Regulatory Sequences, Nucleic Acid - genetics; Risk; Science; Science (multidisciplinary); Stem cells; Transcriptome

Genome-wide association studies (GWAS) have identified more than 40 loci associated with Alzheimer’s disease (AD), but the causal variants, regulatory elements, genes and pathways remain largely unknown, impeding a mechanistic understanding of AD pathogenesis. Previously, we showed that AD risk alle...