SynthesisAmerican journal of human genetics2011
Abundant pleiotropy in human complex diseases and traits.
Synthesis in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 329 papers, 4 of them syntheses 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.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
329 citing papers in PubMed, 4 syntheses or guidelines pooled it, 576 citations in OpenAlex.
- Cross-ancestry genome-wide association studies of liver function biomarkers uncover pleiotropic variants, systemic disease links and therapeutic targets.Genome medicine · 2026Pooled it
- Cross-cancer pleiotropic analysis identifies three novel genetic risk loci for colorectal cancer.Human molecular genetics · 2023Pooled it
- Meta-analysis of sample-level dbGaP data reveals novel shared genetic link between body height and Crohn's disease.Human genetics · 2021Pooled it
- An efficient Bayesian meta-analysis approach for studying cross-phenotype genetic associations.PLoS genetics · 2018Pooled it
- The immunoproteome and multimorbidity: A Mendelian randomization study.Science advances · 2026Article
- A flexible and unified framework for single- and multi-outcome Mendelian randomization using summary statistics.American journal of human genetics · 2026Article
- Extensive antagonistic variants across the human genome.Nature communications · 2026Article
- Divided-and-combined association test for pleiotropic effects with GWAS summary statistics.BMC genomics · 2026Article
- Dissecting pleiotropy to gain mechanistic insights into human disease.Nature reviews. Genetics · 2026Review
- The Contributions of Multiple Polygenic Scores in Predicting Liability for Major Depressive Disorder and Its Comorbidity with Alcohol Use Disorder.Behavior genetics · 2026Article
- Associations between epilepsy-related polygenic risk and brain morphology in childhood.Brain : a journal of neurology · 2026Article
- Harnessing AI to fuse phenotypic signatures for drug target identification: progress in computational modeling.Briefings in bioinformatics · 2026Review
- Mendelian Randomization Methods for Causal Inference: Estimands, Identification and Inference.Statistics in medicine · 2026Review
- Computational biology exposed a common pathogenic mechanism in influenza A and Guillain-Barré syndrome.PloS one · 2026Article
- Multi-omics and comprehensive multi-trait analysis identify shared genetic etiology of heart failure and related cancers.Human genomics · 2025Article
- Network construction using sparse Gaussian graphical model based on GWAS summary statistics.Scientific reports · 2025Article
- Pleiotropy increases with gene age in six model multicellular eukaryotes.Evolution letters · 2025Article
- Disentangling horizontal and vertical Pleiotropy in genetic correlation estimation: introducing the HVP model.Human genetics · 2025Article
- A Unified Explanation for Drug Repurposing and Pharmacological Pleiotropy Based on Classical and Statistical Thermodynamics.Pharmacology research & perspectives · 2025Review
- Bayesian inference of genetic pleiotropy identifies drug targets and repurposable medicines for human complex diseases.medRxiv : the preprint server for health sciences · 2025Article
269 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 4 institutions in 3 countries.
Funding
Abstract
We present a systematic review of pleiotropy among SNPs and genes reported to show genome-wide association with common complex diseases and traits. We find abundant evidence of pleiotropy; 233 (16.9%) genes and 77 (4.6%) SNPs show pleiotropic effects. SNP pleiotropic status was associated with gene location (p = 0.024; pleiotropic SNPs more often exonic [14.5% versus 4.9% for nonpleiotropic, trait-associated SNPs] and less often intergenic [15.8% versus 23.6%]), "predicted transcript consequence" (p = 0.001; pleiotropic SNPs more often predicted to be structurally deleterious [5% versus 0.4%] but not more often in regulatory sequences), and certain disease classes. We develop a method to calculate the likelihood that pleiotropic links between traits occurred more often than expected and demonstrate that this approach can identify etiological links that are already known (such as between fetal hemoglobin and malaria risk) and those that are not yet established (e.g., between plasma campesterol levels and gallstones risk; and between immunoglobulin A and juvenile idiopathic arthritis). Examples of pleiotropy will accumulate over time, but it is already clear that pleiotropy is a common property of genes and SNPs associated with disease traits, and this will have implications for identification of molecular targets for drug development, future genetic risk-profiling, and classification of diseases.
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What OpenQuestion holds
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.