ArticleTranslational psychiatry2017
Whole-exome sequencing of individuals from an isolated population implicates rare risk variants in bipolar disorder.
Article in Translational psychiatry, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.Molecular psychiatry · 2021Pooled it
- Common and rare genetic variants show network convergence for a majority of human traits.EMBO reports · 2026Article
- Increased burden of rare protein-truncating variants in constrained, brain-specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder.Genes, brain, and behavior · 2024Article
- Bipolar Disorder.Current opinion in neurobiology · 2023Review
- SNP heterozygosity, relatedness and inbreeding of whole genomes from the isolated population of the Faroe Islands.BMC genomics · 2023Article
- dbBIP: a comprehensive bipolar disorder database for genetic research.Database : the journal of biological databases and curation · 2022Article
- Genomic and neuroimaging approaches to bipolar disorder.BJPsych open · 2022Review
- HeterozygousGenes · 2021Article
- Emerging perspectives on multidomain phosphatidylinositol transfer proteins.Biochimica et biophysica acta. Molecular and cell biology of lipids · 2021Review
- Contribution of common and rare damaging variants in familial forms of bipolar disorder and phenotypic outcome.Translational psychiatry · 2020Article
- A preliminary investigation of rare variants associated with genetic risk for PTSD in a natural disaster-exposed adolescent sample.European journal of psychotraumatology · 2019Article
- Rare Risk Variants Identification by Identity-by-Descent Mapping and Whole-Exome Sequencing Implicates Neuronal Development Pathways in Schizophrenia and Bipolar Disorder.Molecular neurobiology · 2018Article
- NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Current medicinal chemistry · 2018Review
- Article
- A Genome-Wide Association Study and Complex Network Identify Four Core Hub Genes in Bipolar Disorder.International journal of molecular sciences · 2017Article
Corrections and comments
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Authors and funding
22 authors at 4 institutions in 4 countries.
Funding
Abstract
Bipolar disorder affects about 1% of the world's population, and its estimated heritability is about 75%. Only few whole genome or whole-exome sequencing studies in bipolar disorder have been reported, and no rare coding variants have yet been robustly identified. The use of isolated populations might help finding variants with a recent origin, more likely to have drifted to higher frequency by chance. Following this approach, we investigated 28 bipolar cases and 214 controls from the Faroe Islands by whole exome sequencing, and the results were followed-up in a British sample of 2025 cases and 1358 controls. Seventeen variants in 16 genes in the single-variant analysis, and 3 genes in the gene-based statistics surpassed exome-wide significance in the discovery phase. The discovery findings were supported by enrichment analysis of common variants from genome-wide association studies (GWAS) data and interrogation of protein-protein interaction networks. The replication in the British sample confirmed the association with NOS1 (missense variant rs79487279) and NCL (gene-based test). A number of variants from the discovery set were not present in the replication sample, including a novel PITPNM2 missense variant, which is located in a highly significant schizophrenia GWAS locus. Likewise, PIK3C2A identified in the gene-based analysis is located in a combined bipolar and schizophrenia GWAS locus. Our results show support both for existing findings in the literature, as well as for new risk genes, and identify rare variants that might provide additional information on the underlying biology of bipolar disorder.
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Registered trials
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