Single-cell eQTL mapping identifies cell type–specific genetic control of autoimmune disease
The human immune system displays substantial variation between individuals, leading to
differences in susceptibility to autoimmune disease. We present single-cell RNA sequencing …
differences in susceptibility to autoimmune disease. We present single-cell RNA sequencing …
Cell-type-specific cis-eQTLs in eight human brain cell types identify novel risk genes for psychiatric and neurological disorders
To date, most expression quantitative trait loci (eQTL) studies, which investigate how genetic
variants contribute to gene expression, have been performed in heterogeneous brain …
variants contribute to gene expression, have been performed in heterogeneous brain …
Genomewide association studies in pharmacogenomics
The increasing availability of genotype data linked with information about drug‐response
phenotypes has enabled genomewide association studies (GWAS) that uncover genetic …
phenotypes has enabled genomewide association studies (GWAS) that uncover genetic …
Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes
J Humphrey, S Venkatesh, R Hasan, JT Herb… - Nature …, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is a progressively fatal neurodegenerative disease
affecting motor neurons in the brain and spinal cord. In this study, we investigated gene …
affecting motor neurons in the brain and spinal cord. In this study, we investigated gene …
[HTML][HTML] Genome-wide association meta-analysis of spontaneous coronary artery dissection identifies risk variants and genes related to artery integrity and tissue …
Spontaneous coronary artery dissection (SCAD) is an understudied cause of myocardial
infarction primarily affecting women. It is not known to what extent SCAD is genetically …
infarction primarily affecting women. It is not known to what extent SCAD is genetically …
Genetic analysis of the human microglial transcriptome across brain regions, aging and disease pathologies
KP Lopes, GJL Snijders, J Humphrey, A Allan… - Nature …, 2022 - nature.com
Microglia have emerged as important players in brain aging and pathology. To understand
how genetic risk for neurological and psychiatric disorders is related to microglial function …
how genetic risk for neurological and psychiatric disorders is related to microglial function …
[HTML][HTML] Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure
Heart failure is a leading cause of cardiovascular morbidity and mortality. However, the
contribution of common genetic variation to heart failure risk has not been fully elucidated …
contribution of common genetic variation to heart failure risk has not been fully elucidated …
A genetic link between risk for Alzheimer's disease and severe COVID-19 outcomes via the OAS1 gene
Recently, we reported oligoadenylate synthetase 1 (OAS1) contributed to the risk of
Alzheimer's disease, by its enrichment in transcriptional networks expressed by microglia …
Alzheimer's disease, by its enrichment in transcriptional networks expressed by microglia …
[HTML][HTML] Multi-ancestry genome-wide association meta-analysis of Parkinson's disease
Although over 90 independent risk variants have been identified for Parkinson's disease
using genome-wide association studies, most studies have been performed in just one …
using genome-wide association studies, most studies have been performed in just one …
[HTML][HTML] Physical exercise is a risk factor for amyotrophic lateral sclerosis: Convergent evidence from Mendelian randomisation, transcriptomics and risk genotypes
Background Amyotrophic lateral sclerosis (ALS) is a universally fatal neurodegenerative
disease. ALS is determined by gene-environment interactions and improved understanding …
disease. ALS is determined by gene-environment interactions and improved understanding …