ArticleTranslational psychiatry2018
Elevated expression of a minor isoform of ANK3 is a risk factor for bipolar disorder.
Article in Translational psychiatry, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Long-Read sequencing in psychiatric omics: a systematic review of current evidence.Molecular psychiatry · 2026Pooled it
- Serum extracellular vesicle RNA profiles in long COVID: insights from exercise-induced gene modulation.Scientific reports · 2026Trial
- Surveying alternative transcripts of disease-associated genes and their cell type specificity - a case study with ANK3.Translational psychiatry · 2026Article
- Article
- Age-dependent regulation of axoglial interactions and behavior by oligodendrocyte AnkyrinG.bioRxiv : the preprint server for biology · 2024Article
- Expression of ANK3 moderates the association between childhood trauma and affective traits in severe mental disorders.Scientific reports · 2023Article
- Transcriptional and functional effects of lithium in bipolar disorder iPSC-derived cortical spheroids.Molecular psychiatry · 2023Article
- Clinical case report: mosaicCold Spring Harbor molecular case studies · 2023Article
- Ankyrin2 is essential for neuronal morphogenesis and long-term courtship memory in Drosophila.Molecular brain · 2023Article
- Palmitoylation controls the stability of 190 kDa ankyrin-G in dendritic spines and is regulated by ZDHHC8 and lithium.Frontiers in molecular neuroscience · 2023Article
- Endo-Lysosomal and Autophagy Pathway and Ubiquitin-Proteasome System in Mood Disorders: A Review Article.Neuropsychiatric disease and treatment · 2023Review
- Article
- Roles and mechanisms of ankyrin-G in neuropsychiatric disorders.Experimental & molecular medicine · 2022Review
- The Advent of Nutrigenomics: A Narrative Review with an Emphasis on Psychological Disorders.Preventive nutrition and food science · 2022Review
- A fluorescence recovery after photobleaching protocol to measure surface diffusion of DAGLα in primary cultured cortical mouse neurons.STAR protocols · 2022Article
- Mapping the expression of an ANK3 isoform associated with bipolar disorder in the human brain.Translational psychiatry · 2022Article
- Genetic Alterations in Papillary Thyroid Carcinoma With HashimotoFrontiers in oncology · 2022Article
- DNA methylation signatures of adolescent victimization: analysis of a longitudinal monozygotic twin sample.Epigenetics · 2021Article
- Ankyrins and neurological disease.Current opinion in neurobiology · 2021Review
- A linkage and exome study of multiplex families with bipolar disorder implicates rare coding variants of ANK3 and additional rare alleles at 10q11-q21.Journal of psychiatry & neuroscience : JPN · 2021Article
Corrections and comments
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Authors and funding
24 authors at 8 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ankyrin-3 (ANK3) is one of the few genes that have been consistently identified as associated with bipolar disorder by multiple genome-wide association studies. However, the exact molecular basis of the association remains unknown. A rare loss-of-function splice-site SNP (rs41283526*G) in a minor isoform of ANK3 (incorporating exon ENSE00001786716) was recently identified as protective of bipolar disorder and schizophrenia. This suggests that an elevated expression of this isoform may be involved in the etiology of the disorders. In this study, we used novel approaches and data sets to test this hypothesis. First, we strengthen the statistical evidence supporting the allelic association by replicating the protective effect of the minor allele of rs41283526 in three additional large independent samples (meta-analysis p-values: 6.8E-05 for bipolar disorder and 8.2E-04 for schizophrenia). Second, we confirm the hypothesis that both bipolar and schizophrenia patients have a significantly higher expression of this isoform than controls (p-values: 3.3E-05 for schizophrenia and 9.8E-04 for bipolar type I). Third, we determine the transcription start site for this minor isoform by Pacific Biosciences sequencing of full-length cDNA and show that it is primarily expressed in the corpus callosum. Finally, we combine genotype and expression data from a large Norwegian sample of psychiatric patients and controls, and show that the risk alleles in ANK3 identified by bipolar disorder GWAS are located near the transcription start site of this isoform and are significantly associated with its elevated expression. Together, these results point to the likely molecular mechanism underlying ANK3´s association with bipolar disorder.
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