Brain cell type–specific enhancer–promoter interactome maps and disease-risk association

A Nott, IR Holtman, NG Coufal, JCM Schlachetzki, M Yu… - Science, 2019 - science.org
Noncoding genetic variation is a major driver of phenotypic diversity, but functional
interpretation is challenging. To better understand common genetic variation associated with …

Functional regulatory variants implicate distinct transcriptional networks in dementia

YA Cooper, N Teyssier, NM Dräger, Q Guo, JE Davis… - Science, 2022 - science.org
Predicting the function of noncoding variation is a major challenge in modern genetics. In
this study, we used massively parallel reporter assays to screen 5706 variants identified …

[PDF][PDF] Epigenomic dissection of Alzheimer's disease pinpoints causal variants and reveals epigenome erosion

X Xiong, BT James, CA Boix, YP Park, K Galani… - Cell, 2023 - cell.com
Recent work has identified dozens of non-coding loci for Alzheimer's disease (AD) risk, but
their mechanisms and AD transcriptional regulatory circuitry are poorly understood. Here …

Cell subtype-specific effects of genetic variation in the Alzheimer's disease brain

M Fujita, Z Gao, L Zeng, C McCabe, CC White, B Ng… - Nature Genetics, 2024 - nature.com
The relationship between genetic variation and gene expression in brain cell types and
subtypes remains understudied. Here, we generated single-nucleus RNA sequencing data …

Integrative functional genomic analysis of human brain development and neuropsychiatric risks

M Li, G Santpere, Y Imamura Kawasawa, OV Evgrafov… - Science, 2018 - science.org
INTRODUCTION The brain is responsible for cognition, behavior, and much of what makes
us uniquely human. The development of the brain is a highly complex process, and this …

Genetics of the human microglia regulome refines Alzheimer's disease risk loci

R Kosoy, JF Fullard, B Zeng, J Bendl, P Dong… - Nature …, 2022 - nature.com
Microglia are brain myeloid cells that play a critical role in neuroimmunity and the etiology of
Alzheimer's disease (AD), yet our understanding of how the genetic regulatory landscape …

[HTML][HTML] Human whole genome genotype and transcriptome data for Alzheimer's and other neurodegenerative diseases

M Allen, MM Carrasquillo, C Funk, BD Heavner, F Zou… - Scientific data, 2016 - nature.com
Previous genome-wide association studies (GWAS), conducted by our group and others,
have identified loci that harbor risk variants for neurodegenerative diseases, including …

[HTML][HTML] Integrative network analysis of nineteen brain regions identifies molecular signatures and networks underlying selective regional vulnerability to Alzheimer's …

M Wang, P Roussos, A McKenzie, X Zhou, Y Kajiwara… - Genome medicine, 2016 - Springer
Background Alzheimer's disease (AD) is the most common form of dementia, characterized
by progressive cognitive impairment and neurodegeneration. However, despite extensive …

Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer's and Parkinson's diseases

MR Corces, A Shcherbina, S Kundu, MJ Gloudemans… - Nature …, 2020 - nature.com
Genome-wide association studies of neurological diseases have identified thousands of
variants associated with disease phenotypes. However, most of these variants do not alter …

[HTML][HTML] Integration of Alzheimer's disease genetics and myeloid genomics identifies disease risk regulatory elements and genes

G Novikova, M Kapoor, J Tcw, EM Abud… - Nature …, 2021 - nature.com
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 …