The polygenic architecture of schizophrenia—rethinking pathogenesis and nosology

OB Smeland, O Frei, AM Dale… - Nature Reviews …, 2020 - nature.com
Schizophrenia is a severe psychiatric disorder with considerable morbidity and mortality.
Although the past two decades have seen limited improvement in the treatment of …

What genes are differentially expressed in individuals with schizophrenia? A systematic review

AK Merikangas, M Shelly, A Knighton, N Kotler… - Molecular …, 2022 - nature.com
Schizophrenia is a severe, complex mental disorder characterized by a combination of
positive symptoms, negative symptoms, and impaired cognitive function. Schizophrenia is …

Genetic control of RNA splicing and its distinct role in complex trait variation

T Qi, Y Wu, H Fang, F Zhang, S Liu, J Zeng, J Yang - Nature genetics, 2022 - nature.com
Most genetic variants identified from genome-wide association studies (GWAS) in humans
are noncoding, indicating their role in gene regulation. Previous studies have shown …

Integrating human brain proteomes with genome-wide association data implicates new proteins in Alzheimer's disease pathogenesis

AP Wingo, Y Liu, ES Gerasimov, J Gockley… - Nature …, 2021 - nature.com
Genome-wide association studies (GWAS) have identified many risk loci for Alzheimer's
disease (AD),, but how these loci confer AD risk is unclear. Here, we aimed to identify loci …

Shared mechanisms across the major psychiatric and neurodegenerative diseases

TS Wingo, Y Liu, ES Gerasimov, SM Vattathil… - Nature …, 2022 - nature.com
Several common psychiatric and neurodegenerative diseases share epidemiologic risk;
however, whether they share pathophysiology is unclear and is the focus of our …

Brain proteome-wide association study implicates novel proteins in depression pathogenesis

TS Wingo, Y Liu, ES Gerasimov, J Gockley… - Nature …, 2021 - nature.com
Depression is a common condition, but current treatments are only effective in a subset of
individuals. To identify new treatment targets, we integrated depression genome-wide …

Upper cortical layer–driven network impairment in schizophrenia

MY Batiuk, T Tyler, K Dragicevic, S Mei, R Rydbirk… - Science …, 2022 - science.org
Schizophrenia is one of the most widespread and complex mental disorders. To
characterize the impact of schizophrenia, we performed single-nucleus RNA sequencing …

Quantifying genetic effects on disease mediated by assayed gene expression levels

DW Yao, LJ O'connor, AL Price, A Gusev - Nature genetics, 2020 - nature.com
Disease variants identified by genome-wide association studies (GWAS) tend to overlap
with expression quantitative trait loci (eQTLs), but it remains unclear whether this overlap is …

Synergistic effects of common schizophrenia risk variants

N Schrode, SM Ho, K Yamamuro, A Dobbyn… - Nature …, 2019 - nature.com
The mechanisms by which common risk variants of small effect interact to contribute to
complex genetic disorders are unclear. Here, we apply a genetic approach, using isogenic …

Population-level variation in enhancer expression identifies disease mechanisms in the human brain

P Dong, GE Hoffman, P Apontes, J Bendl, S Rahman… - Nature …, 2022 - nature.com
Identification of risk variants for neuropsychiatric diseases within enhancers underscores the
importance of understanding population-level variation in enhancer function in the human …