ArticleMolecular psychiatry2011
Copy number variations of chromosome 16p13.1 region associated with schizophrenia.
Article in Molecular psychiatry, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 135 papers, 4 of them syntheses that pooled it.
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Who cites it
135 citing papers in PubMed, 4 syntheses or guidelines pooled it, 266 citations in OpenAlex.
- Copy Number Variants in Alzheimer's Disease.Journal of Alzheimer's disease : JAD · 2017Pooled it
- Integrative analysis of genetic data sets reveals a shared innate immune component in autism spectrum disorder and its co-morbidities.Genome biology · 2016Pooled it
- Distribution of disease-associated copy number variants across distinct disorders of cognitive development.Journal of the American Academy of Child and Adolescent Psychiatry · 2013Pooled it
- Microduplications disrupting the MYT1L gene (2p25.3) are associated with schizophrenia.Psychiatric genetics · 2012Pooled it
- Effect of copy number variants on outcomes for infants with single ventricle heart defects.Circulation. Cardiovascular genetics · 2013Trial
- Clinical Insights into the Neurodevelopmental Impact of 16p CNVs in an Italian Clinical Cohort.Genes · 2026Article
- 16p13.11 deletion/duplication: a large cohort study on prenatal diagnosis, postnatal outcomes, and phenotypic manifestations.BMC pregnancy and childbirth · 2025Article
- Structural variation, selection, and diversification of the NPIP gene family from the human pangenome.Cell genomics · 2025Article
- Prevalence, Socio-Demographic Characteristics, and Co-Morbidities of Autism Spectrum Disorder in US Children: Insights from the 2020-2021 National Survey of Children's Health.Children (Basel, Switzerland) · 2025Article
- Independent inheritance of cognition and bipolar disorder in a family sample.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2025Article
- Very Early-Onset Schizophrenia with Accompanying Obsessive-Compulsive Symptoms: A Case Report of a Female with 16p13.11 Duplication.Psychiatry and clinical psychopharmacology · 2024Article
- 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
- Article
- Prenatal diagnosis and postnatal follow-up of 15 fetuses with 16p13.11 microduplication syndrome.Frontiers in genetics · 2024Article
- Clinical characterization of patients with schizophrenia and 16p13.11 duplication: A case series.Neuropsychopharmacology reports · 2023Article
- Association between Arachidonic Acid and the Risk of Schizophrenia: A Cross-National Study and Mendelian Randomization Analysis.Nutrients · 2023Article
- 16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up.BMC pregnancy and childbirth · 2022Article
- The Ntan1 gene is expressed in perineural glia and neurons of adult Drosophila.Scientific reports · 2022Article
- Nde1 is required for heterochromatin compaction and stability in neocortical neurons.iScience · 2022Article
- Disrupted myelination network in the cingulate cortex of Parkinson's disease.IET systems biology · 2022Article
75 more citing papers are in PubMed but not listed here.
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Authors and funding
49 authors at 17 institutions in 10 countries.
Funding
Abstract
Deletions and reciprocal duplications of the chromosome 16p13.1 region have recently been reported in several cases of autism and mental retardation (MR). As genomic copy number variants found in these two disorders may also associate with schizophrenia, we examined 4345 schizophrenia patients and 35,079 controls from 8 European populations for duplications and deletions at the 16p13.1 locus, using microarray data. We found a threefold excess of duplications and deletions in schizophrenia cases compared with controls, with duplications present in 0.30% of cases versus 0.09% of controls (P=0.007) and deletions in 0.12 % of cases and 0.04% of controls (P>0.05). The region can be divided into three intervals defined by flanking low copy repeats. Duplications spanning intervals I and II showed the most significant (P = 0.00010) association with schizophrenia. The age of onset in duplication and deletion carriers among cases ranged from 12 to 35 years, and the majority were males with a family history of psychiatric disorders. In a single Icelandic family, a duplication spanning intervals I and II was present in two cases of schizophrenia, and individual cases of alcoholism, attention deficit hyperactivity disorder and dyslexia. Candidate genes in the region include NTAN1 and NDE1. We conclude that duplications and perhaps also deletions of chromosome 16p13.1, previously reported to be associated with autism and MR, also confer risk of schizophrenia.
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