SynthesisJAMA psychiatry2013
A comprehensive family-based replication study of schizophrenia genes.
Synthesis in JAMA psychiatry, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 84 papers, 7 of them syntheses 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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
84 citing papers in PubMed, 7 syntheses or guidelines pooled it, 158 citations in OpenAlex.
- Multi-ancestry meta-analysis of tobacco use disorder identifies 461 potential risk genes and reveals associations with multiple health outcomes.Nature human behaviour · 2024Pooled it
- Genome-wide association studies and cross-population meta-analyses investigating short and long sleep duration.Nature communications · 2023Pooled it
- Genome-wide association study identifies four pan-ancestry loci for suicidal ideation in the Million Veteran Program.PLoS genetics · 2023Pooled it
- Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci.Molecular psychiatry · 2020Pooled it
- Pooled it
- Meta-analysis of Positive and Negative Symptoms Reveals Schizophrenia Modifier Genes.Schizophrenia bulletin · 2016Pooled it
- Common variants in the MKL1 gene confer risk of schizophrenia.Schizophrenia bulletin · 2015Pooled it
- Identification of Shared Genetic Variants and Haplotypes Associated With Schizophrenia and Depression.Brain and behavior · 2026Article
- BRD1 haploinsufficiency alters early neuronal programming and disrupts maturation in human induced glutamatergic neurons.Research square · 2026Article
- Maternal asthma and newborn DNA methylation.Clinical epigenetics · 2025Article
- Integration of multi-omics summary data reveals the role of N6-methyladenosine in neuropsychiatric disorders.Molecular psychiatry · 2024Article
- Investigating the shared genetic architecture between depression and subcortical volumes.Nature communications · 2024Article
- Genetic factors associated with suicidal behaviors and alcohol use disorders in an American Indian population.Molecular psychiatry · 2024Article
- Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.Scientific reports · 2024Article
- RNA-binding protein Nocte regulates Drosophila development by promoting translation reinitiation on mRNAs with long upstream open reading frames.Nucleic acids research · 2024Article
- ASCL1 Is Involved in the Pathogenesis of Schizophrenia by Regulation of Genes Related to Cell Proliferation, Neuronal Signature Formation, and Neuroplasticity.International journal of molecular sciences · 2023Article
- Microbiota, Diet and Acute Leukaemia: Tips and Tricks on Their Possible Connections.Nutrients · 2023Review
- Multi-ancestry meta-analysis of tobacco use disorder prioritizes novel candidate risk genes and reveals associations with numerous health outcomes.medRxiv : the preprint server for health sciences · 2023Article
- Genetic Factors Associated with Suicidal Behaviors and Alcohol Use Disorders in an American Indian Population.Research square · 2023Article
- Upper cortical layer-driven network impairment in schizophrenia.Science advances · 2022Article
24 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
27 authors at 14 institutions in 9 countries.
Funding
Abstract
importanceSchizophrenia (SCZ) is a devastating psychiatric condition. Identifying the specific genetic variants and pathways that increase susceptibility to SCZ is critical to improve disease understanding and address the urgent need for new drug targets.
objectiveTo identify SCZ susceptibility genes.
designWe integrated results from a meta-analysis of 18 genome-wide association studies (GWAS) involving 1,085,772 single-nucleotide polymorphisms (SNPs) and 6 databases that showed significant informativeness for SCZ. The 9380 most promising SNPs were then specifically genotyped in an independent family-based replication study that, after quality control, consisted of 8107 SNPs.
settingLinkage meta-analysis, brain transcriptome meta-analysis, candidate gene database, OMIM, relevant mouse studies, and expression quantitative trait locus databases. PATIENTS: We included 11,185 cases and 10,768 control subjects from 6 databases and, after quality control 6298 individuals (including 3286 cases) from 1811 nuclear families. MAIN OUTCOMES AND MEASURES: Case-control status for SCZ.
resultsReplication results showed a highly significant enrichment of SNPs with small P values. Of the SNPs with replication values of P.01, the proportion of SNPs that had the same direction of effects as in the GWAS meta-analysis was 89% in the combined ancestry group (sign test, P < 2.20 x 10(-16) and 93% in subjects of European ancestry only (P < 2.20 < 10(-16)). Our results supported the major histocompatibility complex region showing a3.7-fold overall enrichment of replication values of P < .01 in subjects from European ancestry. We replicated SNPs in TCF4 (P = 2.53 x 10(-10)) and NOTCH4 (P = 3.16 x 10(-7)) that are among the most robust SCZ findings. More novel findings included POM121L2 (P = 3.51 x 10(-7)), AS3MT (P = 9.01 x 10(-7)), CNNM2 (P = 6.07 = 10(-7)), and NT5C2(P = 4.09 x 10(-7)). To explore the many small effects, we performed pathway analyses. The most significant pathways involved neuronal function (axonal guidance, neuronal systems, and L1 cell adhesion molecule interaction)and the immune system (antigen processing, cell adhesion molecules relevant to T cells, and translocation to immunological synapse). CONCLUSIONS AND RELEVANCE: We replicated novel SCZ disease genes and pathogenic pathways. Better understanding the molecular and biological mechanisms involved with schizophrenia may improve disease management and may identify new drug targets.
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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.