ArticleHuman genetics2018
The ubiquity of pleiotropy in human disease.
Article in Human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
66 citing papers in PubMed, 1 synthesis or guideline pooled it, 117 citations in OpenAlex.
- Partitioned glioma heritability shows subtype-specific enrichment in immune cells.Neuro-oncology · 2021Pooled it
- Large-Scale Analyses of GWAS Identify Five Key Pleiotropic Genes Involved in Complex Diseases.Genes · 2026Article
- Phenotype-Specific Recalibration of MAVE Data Enables Repurposing ofmedRxiv : the preprint server for health sciences · 2026Article
- Phenotypic prediction of missense variants via deep contrastive learning.Nature biomedical engineering · 2026Article
- Beyond Mendel: a call to revisit the genotype-phenotype map through new experimental paradigms.Genetics · 2026Article
- Genetic correlation analysis of Alzheimer's disease and stroke implicates PHLPP1 as a shared locus in individuals of African ancestry.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026Article
- The Contributions of Multiple Polygenic Scores in Predicting Liability for Major Depressive Disorder and Its Comorbidity with Alcohol Use Disorder.Behavior genetics · 2026Article
- Sexes Are Polymorphisms: Describing and Understanding Sexual Diversity as Phenotypic Variation.Integrative and comparative biology · 2026Review
- Exploring the genetic architecture of multiple long-term conditions using a genome-wide association study in the UK Biobank population.Scientific reports · 2025Article
- Local genetic correlation analysis of Alzheimer's disease and stroke implicatesmedRxiv : the preprint server for health sciences · 2025Article
- Functional Determinants and Evolutionary Consequences of Pleiotropy in Complex and Mendelian Traits.Molecular biology and evolution · 2025Article
- Disentangling horizontal and vertical Pleiotropy in genetic correlation estimation: introducing the HVP model.Human genetics · 2025Article
- Article
- Pleiotropic expression quantitative trait loci are enriched in enhancers and transcription factor binding sites and impact more genes.Computational and structural biotechnology journal · 2024Article
- Data Science Opportunities To Improve Radiotherapy Planning and Clinical Decision Making.Seminars in radiation oncology · 2024Review
- Association between telomere length and idiopathic normal pressure hydrocephalus: a Mendelian randomization study.Frontiers in neurology · 2024Article
- Convergent genetic adaptation ofFrontiers in molecular biosciences · 2024Article
- Patterns and evolutionary consequences of pleiotropy.Annual review of ecology, evolution, and systematics · 2023Article
- Evidence of epistasis in regions of long-range linkage disequilibrium across five complex diseases in the UK Biobank and eMERGE datasets.American journal of human genetics · 2023Article
- POIROT: a powerful test for parent-of-origin effects in unrelated samples leveraging multiple phenotypes.Bioinformatics (Oxford, England) · 2023Article
6 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Pleiotropy has long been thought to be a common phenomenon in the human genome; however, until recently appropriate data was unavailable to test this hypothesis. Prior studies focused on assessing the prevalence of pleiotropy in only small subsets of phenotypes (≤ 53 phenotypes), without a truly comprehensive assessment of pleiotropy in the human genome. In this study, we determined the prevalence of pleiotropy, using the entire GWAS catalog (1094 disease phenotypes, 14,459 genes), as well as investigate the relationship between the degree of pleiotropy and the average effect size for each associating gene. The number of associating phenotypes per gene ranged from 1 to 53, with 44% of genes reported in the GWAS catalog associating with more than one phenotype. The proportion of genes shown to be pleiotropic has continued to increase as more studies are added to the catalog. We also found the degree of pleiotropy scales positively with a gene's average effect size (r = 0.04, p value = 0.0003) and negatively with the variance of effect sizes in genes with a given number of associating phenotypes (r = - 0.590, p value = 0.0019). Based on this and prior work, it is becoming evident that pleiotropy is a common, if not ubiquitous, phenomenon. These results have implications in understanding disease etiologies, potentially common biology underlying even disparate diseases, and in elucidating the genotype-phenotype map.
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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.