ArticleTranslational psychiatry2020
Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates.
Article in Translational psychiatry, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia.Nature genetics · 2022Pooled it
- Functional Genomics Studies of Psychiatric Disorders in Individuals of Latin American Populations: A Scoping Review.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2026Article
- Human mood disorder risk gene Synaptotagmin-14 contributes to mania-like behaviors in mice.Molecular psychiatry · 2025Article
- Psychiatric genetics in the diverse landscape of Latin American populations.Nature genetics · 2025Review
- Heterogeneity analysis provides evidence for a genetically homogeneous subtype of bipolar-disorder.PloS one · 2025Article
- Heterogeneity analysis provides evidence for a genetically homogeneous subtype of bipolar-disorder.ArXiv · 2024Article
- Progress and Implications from Genetic Studies of Bipolar Disorder.Neuroscience bulletin · 2024Review
- Genome-wide analyses reveal novel opioid use disorder loci and genetic overlap with schizophrenia, bipolar disorder, and major depression.Addiction biology · 2023Article
- Common and rare variant associations with latent traits underlying depression, bipolar disorder, and schizophrenia.Translational psychiatry · 2023Article
- Whole exome sequencing in dense families suggests genetic pleiotropy amongst Mendelian and complex neuropsychiatric syndromes.Scientific reports · 2022Article
- Rare genetic variants explain missing heritability in smoking.Nature human behaviour · 2022Article
- Ten challenges for clinical translation in psychiatric genetics.Nature genetics · 2022Review
- Genomic and neuroimaging approaches to bipolar disorder.BJPsych open · 2022Review
- Genetic contributions to bipolar disorder: current status and future directions.Psychological medicine · 2021Review
- Rare variants in the endocytic pathway are associated with Alzheimer's disease, its related phenotypes, and functional consequences.PLoS genetics · 2021Article
- Translational genomics and beyond in bipolar disorder.Molecular psychiatry · 2021Review
- Copy number variant analysis and expression profiling of the olfactory receptor-rich 11q11 region in obesity predisposition.Molecular genetics and metabolism reports · 2020Article
- ForestQC: Quality control on genetic variants from next-generation sequencing data using random forest.PLoS computational biology · 2019Article
- Understanding the Hidden Complexity of Latin American Population Isolates.American journal of human genetics · 2018Article
Corrections and comments
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Authors and funding
38 authors at 13 institutions in 9 countries.
Funding
Abstract
Current evidence from case/control studies indicates that genetic risk for psychiatric disorders derives primarily from numerous common variants, each with a small phenotypic impact. The literature describing apparent segregation of bipolar disorder (BP) in numerous multigenerational pedigrees suggests that, in such families, large-effect inherited variants might play a greater role. To identify roles of rare and common variants on BP, we conducted genetic analyses in 26 Colombia and Costa Rica pedigrees ascertained for bipolar disorder 1 (BP1), the most severe and heritable form of BP. In these pedigrees, we performed microarray SNP genotyping of 838 individuals and high-coverage whole-genome sequencing of 449 individuals. We compared polygenic risk scores (PRS), estimated using the latest BP1 genome-wide association study (GWAS) summary statistics, between BP1 individuals and related controls. We also evaluated whether BP1 individuals had a higher burden of rare deleterious single-nucleotide variants (SNVs) and rare copy number variants (CNVs) in a set of genes related to BP1. We found that compared with unaffected relatives, BP1 individuals had higher PRS estimated from BP1 GWAS statistics (P = 0.001 ~ 0.007) and displayed modest increase in burdens of rare deleterious SNVs (P = 0.047) and rare CNVs (P = 0.002 ~ 0.033) in genes related to BP1. We did not observe rare variants segregating in the pedigrees. These results suggest that small-to-moderate effect rare and common variants are more likely to contribute to BP1 risk in these extended pedigrees than a few large-effect rare variants.
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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 Socratic graph.