ArticlePLoS genetics2018
Identification of expression quantitative trait loci associated with schizophrenia and affective disorders in normal brain tissue.
Article in PLoS genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 46 citations in OpenAlex.
- Endophenotype 2.0: updated definitions and criteria for endophenotypes of psychiatric disorders, incorporating new technologies and findings.Translational psychiatry · 2024Review
- Genetic mechanisms for impaired synaptic plasticity in schizophrenia revealed by computational modeling.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Colocalization analysis of 3' UTR alternative polyadenylation quantitative trait loci reveals novel mechanisms underlying associations with lung function.Human molecular genetics · 2024Article
- Detecting differential transcript usage in complex diseases with SPIT.Cell reports methods · 2024Article
- Identifying genetic loci that are associated with changes in gene expression in PTSD in a South African cohort.Journal of neurochemistry · 2023Article
- Detecting differential transcript usage in complex diseases with SPIT.bioRxiv : the preprint server for biology · 2023Article
- Investigating the shared genetic architecture and causal relationship between pain and neuropsychiatric disorders.Human genetics · 2023Article
- Functional Genomics Analysis to Disentangle the Role of Genetic Variants in Major Depression.Genes · 2022Article
- Integrative Analyses of Transcriptomes to Explore Common Molecular Effects of Antipsychotic Drugs.International journal of molecular sciences · 2022Article
- Variations in antibody repertoires correlate with vaccine responses.Genome research · 2022Article
- Mapping the expression of an ANK3 isoform associated with bipolar disorder in the human brain.Translational psychiatry · 2022Article
- Brain age estimation at tract group level and its association with daily life measures, cardiac risk factors and genetic variants.Scientific reports · 2021Article
- TreeMap: a structured approach to fine mapping of eQTL variants.Bioinformatics (Oxford, England) · 2021Article
- Genome-wide landscape of RNA-binding protein target site dysregulation reveals a major impact on psychiatric disorder risk.Nature genetics · 2021Article
- rs1990622 variant associates with Alzheimer's disease and regulates TMEM106B expression in human brain tissues.BMC medicine · 2021Article
- Making Biological Sense of Genetic Studies of Age-Related Macular Degeneration.Advances in experimental medicine and biology · 2021Article
- A framework for pathway knowledge driven prioritization in genome-wide association studies.Genetic epidemiology · 2020Article
- Eliciting priors and relaxing the single causal variant assumption in colocalisation analyses.PLoS genetics · 2020Article
- Article
- Transcriptome association studies of neuropsychiatric traits in African Americans implicatePeerJ · 2019Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
Abstract
Schizophrenia and the affective disorders, here comprising bipolar disorder and major depressive disorder, are psychiatric illnesses that lead to significant morbidity and mortality worldwide. Whilst understanding of their pathobiology remains limited, large case-control studies have recently identified single nucleotide polymorphisms (SNPs) associated with these disorders. However, discerning the functional effects of these SNPs has been difficult as the associated causal genes are unknown. Here we evaluated whether schizophrenia and affective disorder associated-SNPs are correlated with gene expression within human brain tissue. Specifically, to identify expression quantitative trait loci (eQTLs), we leveraged disorder-associated SNPs identified from 11 genome-wide association studies with gene expression levels in post-mortem, neurologically-normal tissue from two independent human brain tissue expression datasets (UK Brain Expression Consortium (UKBEC) and Genotype-Tissue Expression (GTEx)). Utilizing stringent multi-region meta-analyses, we identified 2,224 cis-eQTLs associated with expression of 40 genes, including 11 non-coding RNAs. One cis-eQTL, rs16969968, results in a functionally disruptive missense mutation in CHRNA5, a schizophrenia-implicated gene. Importantly, comparing across tissues, we find that blood eQTLs capture < 10% of brain cis-eQTLs. Contrastingly, > 30% of brain-associated eQTLs are significant in tibial nerve. This study identifies putatively causal genes whose expression in region-specific tissue may contribute to the risk of schizophrenia and affective disorders.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.