ArticleAmerican journal of human genetics2014
A rare functional noncoding variant at the GWAS-implicated MIR137/MIR2682 locus might confer risk to schizophrenia and bipolar disorder.
Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers.
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67 citing papers in PubMed, 109 citations in OpenAlex.
- A novel machine learning-based algorithm for eQTL identification reveals complex pleiotropic effects in the MHC region.Briefings in bioinformatics · 2026Article
- RVG engineered extracellular vesicles-transmitted miR-137 improves autism by modulating glucose metabolism and neuroinflammation.Molecular psychiatry · 2025Article
- Psychiatric Genomics 2025: State of the Art and the Path Forward.The Psychiatric clinics of North America · 2025Review
- DNA breathing integration with deep learning foundational model advances genome-wide binding prediction of human transcription factors.Nucleic acids research · 2024Article
- Stress-Related Roles of Exosomes and Exosomal miRNAs in Common Neuropsychiatric Disorders.International journal of molecular sciences · 2024Review
- Generation and transcriptomic characterization of MIR137 knockout miniature pig model for neurodevelopmental disorders.Cell & bioscience · 2024Article
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- A comprehensive in silico investigation into the pathogenic SNPs in the RTEL1 gene and their biological consequences.PloS one · 2024Article
- Therapeutic potential for KCC2-targeted neurological diseases.The Japanese dental science review · 2023Review
- Examining DNA breathing with pyDNA-EPBD.Bioinformatics (Oxford, England) · 2023Article
- Differentiation value of miR-26b for major depressive disorder, schizophrenia, generalized anxiety disorder.Indian journal of psychiatry · 2023Article
- RNA epitranscriptomics dysregulation: A major determinant for significantly increased risk of ASD pathogenesis.Frontiers in neuroscience · 2023Article
- MicroRNA 3' ends shorten during adolescent brain maturation.Frontiers in molecular neuroscience · 2023Article
- Genetic and functional analyses implicate microRNA 499A in bipolar disorder development.Translational psychiatry · 2022Article
- MiRLog and dbmiR: Prioritization and functional annotation tools to study human microRNA sequence variants.Human mutation · 2022Article
- 3DFAACTS-SNP: using regulatory T cell-specific epigenomics data to uncover candidate mechanisms of type 1 diabetes (T1D) risk.Epigenetics & chromatin · 2022Article
- Article
- Genetic Polymorphisms in miR-137 and Its Target Genes, TCF4 and CACNA1C, Contribute to the Risk of Bipolar Disorder: A Preliminary Case-Control Study and Bioinformatics Analysis.Disease markers · 2022Article
- Analysis of miRNA rare variants in amyotrophic lateral sclerosis andFrontiers in genetics · 2022Article
- Significant Association of Variable Number Tandem Repeat Polymorphism rs58335419 in the MIR137 Gene With the Risk of Gastric and Colon Cancers.British journal of biomedical science · 2022Article
7 more citing papers are in PubMed but not listed here.
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25 authors at 9 institutions in 2 countries.
Funding
Abstract
Schizophrenia (SZ) genome-wide association studies (GWASs) have identified common risk variants in >100 susceptibility loci; however, the contribution of rare variants at these loci remains largely unexplored. One of the strongly associated loci spans MIR137 (miR137) and MIR2682 (miR2682), two microRNA genes important for neuronal function. We sequenced ∼6.9 kb MIR137/MIR2682 and upstream regulatory sequences in 2,610 SZ cases and 2,611 controls of European ancestry. We identified 133 rare variants with minor allele frequency (MAF) <0.5%. The rare variant burden in promoters and enhancers, but not insulators, was associated with SZ (p = 0.021 for MAF < 0.5%, p = 0.003 for MAF < 0.1%). A rare enhancer SNP, 1:g.98515539A>T, presented exclusively in 11 SZ cases (nominal p = 4.8 × 10(-4)). We further identified its risk allele T in 2 of 2,434 additional SZ cases, 11 of 4,339 bipolar (BP) cases, and 3 of 3,572 SZ/BP study controls and 1,688 population controls; yielding combined p values of 0.0007, 0.0013, and 0.0001 for SZ, BP, and SZ/BP, respectively. The risk allele T of 1:g.98515539A>T reduced enhancer activity of its flanking sequence by >50% in human neuroblastoma cells, predicting lower expression of MIR137/MIR2682. Both empirical and computational analyses showed weaker transcription factor (YY1) binding by the risk allele. Chromatin conformation capture (3C) assay further indicated that 1:g.98515539A>T influenced MIR137/MIR2682, but not the nearby DPYD or LOC729987. Our results suggest that rare noncoding risk variants are associated with SZ and BP at MIR137/MIR2682 locus, with risk alleles decreasing MIR137/MIR2682 expression.
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