Cell-type-specific cis-eQTLs in eight human brain cell types identify novel risk genes for psychiatric and neurological disorders

J Bryois, D Calini, W Macnair, L Foo, E Urich… - Nature …, 2022 - nature.com
To date, most expression quantitative trait loci (eQTL) studies, which investigate how genetic
variants contribute to gene expression, have been performed in heterogeneous brain …

Heart-brain connections: Phenotypic and genetic insights from magnetic resonance images

B Zhao, T Li, Z Fan, Y Yang, J Shu, X Yang, X Wang… - Science, 2023 - science.org
Cardiovascular health interacts with cognitive and mental health in complex ways, yet little is
known about the phenotypic and genetic links of heart-brain systems. We quantified heart …

[HTML][HTML] GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Nature genetics, 2023 - nature.com
Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which
about one-third are resistant to current treatments. Here we report a multi-ancestry genome …

GWAS meta-analysis of suicide attempt: identification of 12 genome-wide significant loci and implication of genetic risks for specific health factors

AR Docherty, N Mullins… - American journal of …, 2023 - Am Psychiatric Assoc
Objective: Suicidal behavior is heritable and is a major cause of death worldwide. Two large-
scale genome-wide association studies (GWASs) recently discovered and cross-validated …

[HTML][HTML] Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific …

W Van Rheenen, RAA Van Der Spek, MK Bakker… - Nature …, 2021 - nature.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk
of one in 350 people and an unmet need for disease-modifying therapies. We conducted a …

A genetic link between risk for Alzheimer's disease and severe COVID-19 outcomes via the OAS1 gene

N Magusali, AC Graham, TM Piers, P Panichnantakul… - Brain, 2021 - academic.oup.com
Recently, we reported oligoadenylate synthetase 1 (OAS1) contributed to the risk of
Alzheimer's disease, by its enrichment in transcriptional networks expressed by microglia …

[HTML][HTML] Evaluating the efficacy and mechanism of metformin targets on reducing Alzheimer's disease risk in the general population: a Mendelian randomisation study

J Zheng, M Xu, V Walker, J Yuan, R Korologou-Linden… - Diabetologia, 2022 - Springer
Aims/hypothesis Metformin use has been associated with reduced incidence of dementia in
diabetic individuals in observational studies. However, the causality between the two in the …

[HTML][HTML] Multi-ancestry genome-wide association meta-analysis of Parkinson's disease

JJ Kim, D Vitale, DV Otani, MM Lian, K Heilbron… - Nature …, 2024 - nature.com
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 …

[HTML][HTML] Interpretation of the role of germline and somatic non-coding mutations in cancer: expression and chromatin conformation informed analysis

M Pudjihartono, JK Perry, C Print, JM O'Sullivan… - Clinical …, 2022 - Springer
Background There has been extensive scrutiny of cancer driving mutations within the exome
(especially amino acid altering mutations) as these are more likely to have a clear impact on …

[HTML][HTML] Advances in the genetic classification of amyotrophic lateral sclerosis

J Cooper-Knock, C Harvey, S Zhang… - Current opinion in …, 2021 - journals.lww.com
The move away from fully penetrant Mendelian risk genes necessitates new experimental
designs and new standards for validation. The challenges are significant, but the potential …