SynthesisPloS one2013
BCL9 and C9orf5 are associated with negative symptoms in schizophrenia: meta-analysis of two genome-wide association studies.
Synthesis in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 60 citations in OpenAlex.
- Integrating genetic and transcriptomic data to identify genes underlying obesity risk loci.International journal of obesity (2005) · 2025Article
- Abnormal O-glycan sialylation in the mPFC contributes to depressive-like behaviors in male mice.Science advances · 2025Article
- A review on the relationship between the distal 1q21.1 microdeletion and schizophrenia.Frontiers in genetics · 2025Review
- Exome sequencing identifies genes associated with sleep-related traits.Nature human behaviour · 2024Article
- Article
- Characterization of genomic regions escaping epigenetic reprogramming in sheep.Environmental epigenetics · 2024Article
- Identifying genetic loci and phenomic associations of substance use traits: A multi-trait analysis of GWAS (MTAG) study.Addiction (Abingdon, England) · 2023Article
- Role of cryptic rearrangements of human chromosomes in the aetiology of schizophrenia.Journal of genetics · 2023Article
- Review
- Integration of Transcriptome and Exome Genotyping Identifies Significant Variants with Autism Spectrum Disorder.Pharmaceuticals (Basel, Switzerland) · 2022Article
- The Latent Structure of Negative Symptoms in the General Population in Adolescence and Emerging Adulthood.Schizophrenia bulletin open · 2022Article
- Whole-exome sequencing identifies genes associated with Tourette's disorder in multiplex families.Molecular psychiatry · 2021Article
- Developments in Biological Mechanisms and Treatments for Negative Symptoms and Cognitive Dysfunction of Schizophrenia.Neuroscience bulletin · 2021Review
- Dissecting Molecular Genetic Mechanisms of 1q21.1 CNV in Neuropsychiatric Disorders.International journal of molecular sciences · 2021Review
- Identification of critical genetic variants associated with metabolic phenotypes of the Japanese population.Communications biology · 2020Article
- BCL9 provides multi-cellular communication properties in colorectal cancer by interacting with paraspeckle proteins.Nature communications · 2020Article
- LncRNA ROR1‑AS1 high expression and its prognostic significance in liver cancer.Oncology reports · 2020Article
- Gene-level genome-wide association analysis of suicide attempt, a preliminary study in a psychiatric Mexican population.Molecular genetics & genomic medicine · 2019Article
- Low lncRNA ZNF385D‑AS2 expression and its prognostic significance in liver cancer.Oncology reports · 2019Article
- Analysis of the promoter region of the human miR-32 gene in colorectal cancer.Oncology letters · 2019Article
Corrections and comments
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Authors and funding
15 authors at 7 institutions in 3 countries.
Funding
Abstract
Schizophrenia is a chronic and debilitating psychiatric condition affecting slightly more than 1% of the population worldwide and it is a multifactorial disorder with a high degree of heritability (80%) based on family and twin studies. Increasing lines of evidence suggest intermediate phenotypes/endophenotypes are more associated with causes of the disease and are less genetically complex than the broader disease spectrum. Negative symptoms in schizophrenia are attractive intermediate phenotypes based on their clinical and treatment response features. Therefore, our objective was to identify genetic variants underlying the negative symptoms of schizophrenia by analyzing two genome-wide association (GWA) data sets consisting of a total of 1,774 European-American patients and 2,726 controls. Logistic regression analysis of negative symptoms as a binary trait (adjusted for age and sex) was performed using PLINK. For meta-analysis of two datasets, the fixed-effect model in PLINK was applied. Through meta-analysis we identified 25 single nucleotide polymorphisms (SNPs) associated with negative symptoms with p<5×10(-5). Especially we detected five SNPs in the first two genes/loci strongly associated with negative symptoms of schizophrenia (P(meta-analysis)<6.22×10(-6)), which included three SNPs in the BCL9 gene: rs583583 showed the strongest association at a P(meta-analysis) of 6.00×10(-7) and two SNPs in the C9orf5 (the top SNP is rs643410 with a p = 1.29 ×10(-6)). Through meta-analysis, we identified several additional negative symptoms associated genes (ST3GAL1, RNF144, CTNNA3 and ZNF385D). This is the first report of the common variants influencing negative symptoms of schizophrenia. These results provide direct evidence of using of negative symptoms as an intermediate phenotype to dissect the complex genetics of schizophrenia. However, additional studies are warranted to examine the underlying mechanisms of these disease-associated SNPs in these genes.
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