Molecular quantitative trait loci

F Aguet, K Alasoo, YI Li, A Battle, HK Im… - Nature reviews …, 2023 - nature.com
Understanding functional effects of genetic variants is one of the key challenges in human
genetics, as much of disease-associated variation is located in non-coding regions with …

Systems biology dissection of PTSD and MDD across brain regions, cell types, and blood

NP Daskalakis, A Iatrou, C Chatzinakos, A Jajoo… - Science, 2024 - science.org
The molecular pathology of stress-related disorders remains elusive. Our brain multiregion,
multiomic study of posttraumatic stress disorder (PTSD) and major depressive disorder …

Sex affects transcriptional associations with schizophrenia across the dorsolateral prefrontal cortex, hippocampus, and caudate nucleus

KJM Benjamin, R Arora, AS Feltrin, G Pertea… - Nature …, 2024 - nature.com
Schizophrenia is a complex neuropsychiatric disorder with sexually dimorphic features,
including differential symptomatology, drug responsiveness, and male incidence rate. Prior …

Prioritization of potential causative genes for schizophrenia in placenta

G Ursini, P Di Carlo, S Mukherjee, Q Chen… - Nature …, 2023 - nature.com
Our earlier work has shown that genomic risk for schizophrenia converges with early life
complications in affecting risk for the disorder and sex-biased neurodevelopmental …

Genome-wide sequencing-based identification of methylation quantitative trait loci and their role in schizophrenia risk

KA Perzel Mandell, NJ Eagles, R Wilton… - Nature …, 2021 - nature.com
DNA methylation (DNAm) is an epigenetic regulator of gene expression and a hallmark of
gene-environment interaction. Using whole-genome bisulfite sequencing, we have surveyed …

Genetics and brain transcriptomics of completed suicide

G Punzi, G Ursini, Q Chen, E Radulescu… - American journal of …, 2022 - psychiatryonline.org
Objective: The authors sought to study the transcriptomic and genomic features of completed
suicide by parsing the method chosen, to capture molecular correlates of the distinctive …

The miR-124-AMPAR pathway connects polygenic risks with behavioral changes shared between schizophrenia and bipolar disorder

H Namkung, H Yukitake, D Fukudome, BJ Lee, M Tian… - Neuron, 2023 - cell.com
Schizophrenia (SZ) and bipolar disorder (BP) are highly heritable major psychiatric
disorders that share a substantial portion of genetic risk as well as their clinical …

Molecular phenotypes associated with antipsychotic drugs in the human caudate nucleus

KA Perzel Mandell, NJ Eagles, A Deep-Soboslay… - Molecular …, 2022 - nature.com
Antipsychotic drugs are the current first-line of treatment for schizophrenia and other
psychotic conditions. However, their molecular effects on the human brain are poorly …

Benchmark of cellular deconvolution methods using a multi-assay reference dataset from postmortem human prefrontal cortex

LA Huuki-Myers, KD Montgomery, SH Kwon… - BioRxiv, 2024 - pmc.ncbi.nlm.nih.gov
Background: Cellular deconvolution of bulk RNA-sequencing (RNA-seq) data using single
cell or nuclei RNA-seq (sc/snRNA-seq) reference data is an important strategy for estimating …

Transcriptomic analysis of the human habenula in schizophrenia

EA Yalcinbas, B Ajanaku, ED Nelson… - BioRxiv, 2024 - pmc.ncbi.nlm.nih.gov
Pathophysiology of many neuropsychiatric disorders, including schizophrenia (SCZD), is
linked to habenula (Hb) function. While pharmacotherapies and deep brain stimulation …