ArticleProceedings of the National Academy of Sciences of the United States of America2009
Elucidating the genetic architecture of familial schizophrenia using rare copy number variant and linkage scans.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 85 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
85 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Copy number variations associated with obesity-related traits in African Americans: a joint analysis between GENOA and HyperGEN.Obesity (Silver Spring, Md.) · 2012Pooled it
- Targeted Treatment of Individuals With Psychosis Carrying a Copy Number Variant Containing a Genomic Triplication of the Glycine Decarboxylase Gene.Biological psychiatry · 2019Trial
- Epigenome-wide Analysis Identifies Genes and Pathways Linked to Neurobehavioral Variation in Preterm Infants.Scientific reports · 2019Trial
- Effects of neuregulin 3 genotype on human prefrontal cortex physiology.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2014Trial
- The Molecular Machinery of Synaptic Plasticity and Its Potential Role in the Aetiology of Schizophrenia.Molecular neurobiology · 2026Review
- Enhanced Rap1 small GTPase activity in the ventral hippocampus drives stress-induced anxiety.Science advances · 2025Article
- Genetic markers of early response to lurasidone in acute schizophrenia.The pharmacogenomics journal · 2025Article
- Genome-Wide and Transcriptome-Wide Association Studies on Northern New England and Ohio Amyotrophic Lateral Sclerosis Cohorts.Neurology. Genetics · 2024Article
- Two polygenic mouse models of major depressive disorders identify TMEM161B as a potential biomarker of disease in humans.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2024Article
- Interactions between Ras and Rap signaling pathways during neurodevelopment in health and disease.Frontiers in molecular neuroscience · 2024Review
- Comparative genomics of widespread and narrow-range white-bellied rats in theZoological research · 2023Article
- Regulation of Biomolecular Condensates by Poly(ADP-ribose).Chemical reviews · 2023Review
- LRFN5 and OLFM4 as novel potential biomarkers for major depressive disorder: a pilot study.Translational psychiatry · 2023Article
- Molecular genetics of neuropsychiatric illness: some musings.Frontiers in genetics · 2023Article
- Genome-scale copy number variant analysis in schizophrenia patients and controls from South India.Frontiers in molecular neuroscience · 2023Article
- Article
- Peripheral Expression ofPsychiatry and clinical psychopharmacology · 2021Article
- The Rap1 small GTPase is a critical mediator of the effects of stress on prefrontal cortical dysfunction.Molecular psychiatry · 2021Article
- Association of MACROD2 gene variants with obesity and physical activity in a Korean population.Molecular genetics & genomic medicine · 2021Article
- Behavioural Characterisation ofCells · 2021Article
25 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
Abstract
To elucidate the genetic architecture of familial schizophrenia we combine linkage analysis with studies of fine-level chromosomal variation in families recruited from the Afrikaner population in South Africa. We demonstrate that individually rare inherited copy number variants (CNVs) are more frequent in cases with familial schizophrenia as compared to unaffected controls and affect almost exclusively genic regions. Interestingly, we find that while the prevalence of rare structural variants is similar in familial and sporadic cases, the type of variants is markedly different. In addition, using a high-density linkage scan with a panel of nearly 2,000 markers, we identify a region on chromosome 13q34 that shows genome-wide significant linkage to schizophrenia and show that in the families not linked to this locus, there is evidence for linkage to chromosome 1p36. No causative CNVs were identified in either locus. Overall, our results from approaches designed to detect risk variants with relatively low frequency and high penetrance in a well-defined and relatively homogeneous population, provide strong empirical evidence supporting the notion that multiple genetic variants, including individually rare ones, that affect many different genes contribute to the genetic risk of familial schizophrenia. They also highlight differences in the genetic architecture of the familial and sporadic forms of the disease.
Indexed as
Identifiers
What OpenQuestion holds
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.