ArticleMolecular psychiatry2018
Rare susceptibility variants for bipolar disorder suggest a role for G protein-coupled receptors.
Article in Molecular psychiatry, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia.Nature genetics · 2022Pooled it
- Neuroplacentology of stress: Novel frontiers linking maternal mental health to offspring neurodevelopment.Neurobiology of stress · 2026Review
- Functional Variation in RGS12 Should Not Preclude Methylphenidate Use in Bipolar Disorder with Established Mood Stabilization: Preclinical Evidence.International journal of molecular sciences · 2025Article
- Transcriptomic and epigenomic consequences of heterozygous loss-of-function mutations in AKAP11, a shared risk gene for bipolar disorder and schizophrenia.Molecular psychiatry · 2025Article
- Polygenic Scores and Mood Disorder Onsets in the Context of Family History and Early Psychopathology.JAMA network open · 2025Article
- RareHeliyon · 2024Article
- Rare variants implicate NMDA receptor signaling and cerebellar gene networks in risk for bipolar disorder.Molecular psychiatry · 2022Article
- Comorbidity of NovelInternational journal of molecular sciences · 2022Article
- Evaluating the role of common risk variation in the recurrence risk of schizophrenia in multiplex schizophrenia families.Translational psychiatry · 2022Article
- Genomic and neuroimaging approaches to bipolar disorder.BJPsych open · 2022Review
- Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders.Molecular psychiatry · 2021Article
- 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
- Prediction of lithium response using genomic data.Scientific reports · 2021Article
- Exemplar scoring identifies genetically separable phenotypes of lithium responsive bipolar disorder.Translational psychiatry · 2021Article
- The Role of Genetics in Bipolar Disorder.Current topics in behavioral neurosciences · 2021Article
- Translational genomics and beyond in bipolar disorder.Molecular psychiatry · 2021Review
- Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families.Translational psychiatry · 2020Article
- [Breakthrough in understanding the molecular causes of psychiatric disorders].Der Nervenarzt · 2019Review
- Genetic Overlap Between Alzheimer's Disease and Bipolar Disorder Implicates the MARK2 and VAC14 Genes.Frontiers in neuroscience · 2019Article
- Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing.Translational psychiatry · 2018Article
Corrections and comments
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Authors and funding
20 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Bipolar disorder (BD) is a prevalent mood disorder that tends to cluster in families. Despite high heritability estimates, few genetic susceptibility factors have been identified over decades of genetic research. One possible interpretation for the shortcomings of previous studies to detect causative genes is that BD is caused by highly penetrant rare variants in many genes. We explored this hypothesis by sequencing the exomes of affected individuals from 40 well-characterized multiplex families. We identified rare variants segregating with affected status in many interesting genes, and found an enrichment of deleterious variants in G protein-coupled receptor (GPCR) family genes, which are important drug targets. Furthermore, we showed targeted downstream GPCR dysregulation for some of the variants that may contribute to disease pathology. Particularly interesting was the finding of a rare and functionally relevant nonsense mutation in the corticotropin-releasing hormone receptor 2 (CRHR2) gene that tracked with affected status in one family. By focusing on rare variants in informative families, we identified key biochemical pathways likely implicated in this complex disorder.
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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.