ArticleMolecular psychiatry2022
Exome-wide screening identifies novel rare risk variants for major depression disorder.
Article in Molecular psychiatry, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- Potential for Genomics to Help Guide Preventive Strategies in Psychiatry.JAMA psychiatry · 2026Article
- Article
- The role of rare copy number variants in early-onset depression.JCPP advances · 2026Article
- Optimization of potential targets for antidepressant Chinese medicines: AI and multi-omics methods.Chinese medicine · 2026Review
- Human mood disorder risk gene Synaptotagmin-14 contributes to mania-like behaviors in mice.Molecular psychiatry · 2025Article
- Whole exome sequencing identified six novel genes for depressive symptoms.Molecular psychiatry · 2025Article
- Polygenic scores contribution to Parkinson's disease comorbidities.Brain communications · 2025Article
- Investigating the shared genetic architecture between depression and subcortical volumes.Nature communications · 2024Article
- Large-scale whole-exome sequencing of neuropsychiatric diseases and traits in 350,770 adults.Nature human behaviour · 2024Article
- Integration of whole-exome sequencing and structural neuroimaging analysis in major depressive disorder: a joint study.Translational psychiatry · 2024Article
- Activity-Dependent Transcriptional Program in NGN2+ Neurons Enriched for Genetic Risk for Brain-Related Disorders.Biological psychiatry · 2024Article
- Navigating the Intersection of Technology and Depression Precision Medicine.Advances in experimental medicine and biology · 2024Review
- Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.American journal of human genetics · 2023Article
- Exome-wide association study of treatment-resistant depression suggests novel treatment targets.Scientific reports · 2023Article
- Genome-wide analyses reveal novel opioid use disorder loci and genetic overlap with schizophrenia, bipolar disorder, and major depression.Addiction biology · 2023Article
- Exome-wide screening identifies novel rare risk variants for bone mineral density.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2023Article
- Examining the source of increased bipolar disorder and major depressive disorder common risk variation burden in multiplex schizophrenia families.Schizophrenia (Heidelberg, Germany) · 2022Article
- Whole Exome Sequencing Study Identifies Novel Rare Risk Variants for Habitual Coffee Consumption Involved in Olfactory Receptor and Hyperphagia.Nutrients · 2022Article
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Authors and funding
15 authors.
Funding
Abstract
Despite thousands of common genetic loci of major depression disorders (MDD) have been identified by GWAS to date, a large proportion of genetic variation predisposing to MDD remains unaccounted for. By utilizing the newly released UK Biobank 200,643 exome dataset, we conducted an exome-wide association study to identify rare risk variants contributing to MDD. After quality control, 120,033 participants with MDD polygenic risk scores (PRS) values were included. The individuals with lower 30% quantile of the PRS value were filtered for case and control selecting. Then the cases were set as the individuals with upper 10% quantile of the PHQ depression score and lower 10% quantile were set as controls. Finally, 1612 cases and 1612 controls were included in this study. The variants were annotated by ANNOVRA software. After exclusions, 34,761 qualifying variants, including 148 frameshift variant, 335 non-frameshift variant, 33,758 nonsynonymous, 91 start-loss, 393 stop-gain, 36 stop-loss variants were imported into the SKAT R-package to perform single variants, gene-based burden and robust burden tests with minor allele frequency (MAF) < 0.01. Single variant association testing identified one variant, rs4057749 (P = 5.39 × 10
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