ArticleBMC genomics2019
Investigation of multi-trait associations using pathway-based analysis of GWAS summary statistics.
Article in BMC genomics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Charting the proteome landscape in major psychiatric disorders: From biomarkers to biological pathways towards drug discovery.European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology · 2022Pooled it
- Genome-wide association study identifies novel variants in olfactory, vitamin A, vitamin B, and cadherin pathways associated with learning and memory.Scientific reports · 2025Article
- deCS: A Tool for Systematic Cell Type Annotations of Single-cell RNA Sequencing Data among Human Tissues.Genomics, proteomics & bioinformatics · 2023Article
- A clustering linear combination method for multiple phenotype association studies based on GWAS summary statistics.Scientific reports · 2023Article
- Insight into the Candidate Genes and Enriched Pathways Associated with Height, Length, Length to Height Ratio and Body-Weight of Korean Indigenous Breed, Jindo Dog Using Gene Set Enrichment-Based GWAS Analysis.Animals : an open access journal from MDPI · 2021Article
- Predicting regulatory variants using a dense epigenomic mapped CNN model elucidated the molecular basis of trait-tissue associations.Nucleic acids research · 2021Article
- CSEA-DB: an omnibus for human complex trait and cell type associations.Nucleic acids research · 2021Article
- Characterization of genome-wide association study data reveals spatiotemporal heterogeneity of mental disorders.BMC medical genomics · 2020Article
- PhenomeXcan: Mapping the genome to the phenome through the transcriptome.Science advances · 2020Article
- Article
- TSEA-DB: a trait-tissue association map for human complex traits and diseases.Nucleic acids research · 2020Article
- CNet: a multi-omics approach to detecting clinically associated, combinatory genomic signatures.Bioinformatics (Oxford, England) · 2019Article
- The International Conference on Intelligent Biology and Medicine (ICIBM) 2018: genomics with bigger data and wider applications.BMC genomics · 2019Article
- Shared Genetics of Psychiatric Disorders.F1000Research · 2019Review
- A Convergent Study of Genetic Variants Associated With Crohn's Disease: Evidence From GWAS, Gene Expression, Methylation, eQTL and TWAS.Frontiers in genetics · 2019Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
backgroundGenome-wide association studies (GWAS) have been successful in identifying disease-associated genetic variants. Recently, an increasing number of GWAS summary statistics have been made available to the research community, providing extensive repositories for studies of human complex diseases. In particular, cross-trait associations at the genetic level can be beneficial from large-scale GWAS summary statistics by using genetic variants that are associated with multiple traits. However, direct assessment of cross-trait associations using susceptibility loci has been challenging due to the complex genetic architectures in most diseases, calling for advantageous methods that could integrate functional interpretation and imply biological mechanisms.
resultsWe developed an analytical framework for systematic integration of cross-trait associations. It incorporates two different approaches to detect enriched pathways and requires only summary statistics. We demonstrated the framework using 25 traits belonging to four phenotype groups. Our results revealed an average of 54 significantly associated pathways (ranged between 18 and 175) per trait. We further proved that pathway-based analysis provided increased power to estimate cross-trait associations compared to gene-level analysis. Based on Fisher's Exact Test (FET), we identified a total of 24 (53) pairs of trait-trait association at adjusted p
conclusionsOur study revealed that risk variants for 25 different traits aggregated in particular biological pathways and that these pathways were frequently shared among traits. Our results confirmed known mechanisms and also suggested several novel insights into the etiology of multi-traits.
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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 Socratic graph.