ArticlePLoS genetics2014
Genomic view of bipolar disorder revealed by whole genome sequencing in a genetic isolate.
Article in PLoS genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.
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Who cites it
48 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Exome Sequencing of Familial Bipolar Disorder.JAMA psychiatry · 2016Pooled it
- Bipolar disorder: Construction and analysis of a joint diagnostic model using random forest and feedforward neural networks.IBRO neuroscience reports · 2024Article
- Genome-wide significant risk loci for mood disorders in the Old Order Amish founder population.Molecular psychiatry · 2023Article
- A fast linkage method for population GWAS cohorts with related individuals.Genetic epidemiology · 2023Article
- Rare variants implicate NMDA receptor signaling and cerebellar gene networks in risk for bipolar disorder.Molecular psychiatry · 2022Article
- Genomic and neuroimaging approaches to bipolar disorder.BJPsych open · 2022Review
- De novo variation in bipolar disorder.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
- Ancestral haplotype reconstruction in endogamous populations using identity-by-descent.PLoS computational biology · 2021Article
- Inherited L1 Retrotransposon Insertions Associated With Risk for Schizophrenia and Bipolar Disorder.Schizophrenia bulletin open · 2021Article
- Transcriptomic signatures across human tissues identify functional rare genetic variation.Science (New York, N.Y.) · 2020Article
- Using linkage studies combined with whole-exome sequencing to identify novel candidate genes for familial colorectal cancer.International journal of cancer · 2020Article
- The genetics of bipolar disorder.Molecular psychiatry · 2020Review
- Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates.Translational psychiatry · 2020Article
- Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families.Translational psychiatry · 2020Article
- Clinical and genetic validity of quantitative bipolarity.Translational psychiatry · 2019Article
- Health Needs Assessment of Five Pennsylvania Plain Populations.International journal of environmental research and public health · 2019Article
- Twin-based heritability of actimetry traits.Genes, brain, and behavior · 2019Article
- Rediscovering the value of families for psychiatric genetics research.Molecular psychiatry · 2019Review
- Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.Translational psychiatry · 2018Article
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Authors and funding
10 authors.
Funding
Abstract
Bipolar disorder is a common, heritable mental illness characterized by recurrent episodes of mania and depression. Despite considerable effort to elucidate the genetic underpinnings of bipolar disorder, causative genetic risk factors remain elusive. We conducted a comprehensive genomic analysis of bipolar disorder in a large Old Order Amish pedigree. Microsatellite genotypes and high-density SNP-array genotypes of 388 family members were combined with whole genome sequence data for 50 of these subjects, comprising 18 parent-child trios. This study design permitted evaluation of candidate variants within the context of haplotype structure by resolving the phase in sequenced parent-child trios and by imputation of variants into multiple unsequenced siblings. Non-parametric and parametric linkage analysis of the entire pedigree as well as on smaller clusters of families identified several nominally significant linkage peaks, each of which included dozens of predicted deleterious variants. Close inspection of exonic and regulatory variants in genes under the linkage peaks using family-based association tests revealed additional credible candidate genes for functional studies and further replication in population-based cohorts. However, despite the in-depth genomic characterization of this unique, large and multigenerational pedigree from a genetic isolate, there was no convergence of evidence implicating a particular set of risk loci or common pathways. The striking haplotype and locus heterogeneity we observed has profound implications for the design of studies of bipolar and other related disorders.
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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.