ArticleScientific reports2020
Phenome-wide functional dissection of pleiotropic effects highlights key molecular pathways for human complex traits.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Pooled it
- A novel machine learning-based algorithm for eQTL identification reveals complex pleiotropic effects in the MHC region.Briefings in bioinformatics · 2026Article
- Pleiotropy and disease interactors: the dual nature of genes linking ageing and ageing-related diseases.Biogerontology · 2026Article
- Functional Determinants and Evolutionary Consequences of Pleiotropy in Complex and Mendelian Traits.Molecular biology and evolution · 2025Article
- Deciphering the causal relationship between atopic dermatitis and lymphoma via multi-omics Mendelian randomization and colocalization analyses.Chinese medical journal · 2025Article
- Pleiotropic expression quantitative trait loci are enriched in enhancers and transcription factor binding sites and impact more genes.Computational and structural biotechnology journal · 2024Article
- Article
- The Role of NOTCH Pathway Genes in the Inherited Susceptibility to Aortic Stenosis.Journal of cardiovascular development and disease · 2024Article
- A phenome-wide association and Mendelian randomisation study of alcohol use variants in a diverse cohort comprising over 3 million individuals.EBioMedicine · 2024Article
- Advancements and Prospects of Genome-Wide Association Studies (GWAS) in Maize.International journal of molecular sciences · 2024Review
- Recent natural selection conferred protection against schizophrenia by non-antagonistic pleiotropy.Scientific reports · 2023Article
- Elucidating the patterns of pleiotropy and its biological relevance in maize.PLoS genetics · 2023Article
- A pleiotropic variant in DNAJB4 is associated with multiple myeloma risk.International journal of cancer · 2023Article
- Biobanking as a Tool for Genomic Research: From Allele Frequencies to Cross-Ancestry Association Studies.Journal of personalized medicine · 2022Review
- Article
- WebCSEA: web-based cell-type-specific enrichment analysis of genes.Nucleic acids research · 2022Article
- Systems genetics in the rat HXB/BXH family identifies Tti2 as a pleiotropic quantitative trait gene for adult hippocampal neurogenesis and serum glucose.PLoS genetics · 2022Article
- Revisiting the malaria hypothesis: accounting for polygenicity and pleiotropy.Trends in parasitology · 2022Review
- Article
- An integrated framework for local genetic correlation analysis.Nature genetics · 2022Article
Corrections and comments
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Authors and funding
4 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Over the recent decades, genome-wide association studies (GWAS) have dramatically changed the understanding of human genetics. A recent genetic data release by UK Biobank (UKB) has allowed many researchers worldwide to have comprehensive look into the genetic architecture of thousands of human phenotypes. In this study, we used GWAS summary statistics derived from the UKB cohort to investigate functional mechanisms of pleiotropic effects across the human phenome. We find that highly pleiotropic variants often correspond to broadly expressed genes with ubiquitous functions, such as matrisome components and cell growth regulators; and tend to colocalize with tissue-shared eQTLs. At the same time, signaling pathway components are more prevalent among highly pleiotropic genes compared to regulatory proteins such as transcription factors. Our results suggest that protein-level pleiotropy mediated by ubiquitously expressed genes is the most prevalent mechanism of pleiotropic genetic effects across the human phenome.
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Registered trials
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 OpenQuestion graph.