ArticleeLife2021
GWAS of three molecular traits highlights core genes and pathways alongside a highly polygenic background.
Article in eLife, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 104 papers, 4 of them syntheses that pooled it.
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Who cites it
104 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Discovery of novel ancestry specific genes for androgens and hypogonadism in Million Veteran Program Men.Nature communications · 2025Pooled it
- Better together against genetic heterogeneity: A sex-combined joint main and interaction analysis of 290 quantitative traits in the UK Biobank.PLoS genetics · 2024Pooled it
- Genetic effects on the timing of parturition and links to fetal birth weight.Nature genetics · 2023Pooled it
- Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways.Nature genetics · 2022Pooled it
- Disentangling Sex Differences in Sulfonylurea Drug Response With Genome-Wide Association Studies in Individuals With Type 2 Diabetes.Clinical pharmacology and therapeutics · 2026Article
- Polymorphic Variant Associated with Sex Hormone-Binding Globulin Level Is a Risk Factor for Preeclampsia.International journal of molecular sciences · 2026Article
- Principled measures and estimates of trait polygenicity.American journal of human genetics · 2026Article
- Multiple instance fine-mapping: Predicting causal regulatory variants with a deep sequence model.PLoS genetics · 2026Article
- Observational epidemiological studies can mitigate genetic confounding with a genetic relatedness matrix.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Astrocyte fatty acid metabolism as a driver of risk for major depressive disorder.Nature communications · 2026Article
- Locus- and Gene-Level Insights into the Inverse Association Between Alzheimer's Disease and Cancer.International journal of molecular sciences · 2026Article
- The Polygenic Architecture of Human Diseases Affecting the Hair Follicle.The Journal of investigative dermatology · 2026Review
- Simplifying causal gene identification in GWAS loci.PLoS genetics · 2026Article
- Effects of testosterone on gene expression in males and females across 40 human tissues.Scientific reports · 2026Article
- The polygenic, omnigenic and stratagenic models of complex disease risk.Nature genetics · 2026Review
- Article
- Choice of phenotype scale is critical in biobank-based G×E tests.bioRxiv : the preprint server for biology · 2026Article
- Growth Hormone and IGF-1 Actions in the Brain and Neuropsychiatric Diseases.Physiology (Bethesda, Md.) · 2026Review
- Article
- Genetics to Improve Outcomes in Schizophrenia (GENios): A within-case molecular genetic study protocol.PloS one · 2026Article
44 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
Genome-wide association studies (GWAS) have been used to study the genetic basis of a wide variety of complex diseases and other traits. We describe UK Biobank GWAS results for three molecular traits-urate, IGF-1, and testosterone-with better-understood biology than most other complex traits. We find that many of the most significant hits are readily interpretable. We observe huge enrichment of associations near genes involved in the relevant biosynthesis, transport, or signaling pathways. We show how GWAS data illuminate the biology of each trait, including differences in testosterone regulation between females and males. At the same time, even these molecular traits are highly polygenic, with many thousands of variants spread across the genome contributing to trait variance. In summary, for these three molecular traits we identify strong enrichment of signal in putative core gene sets, even while most of the SNP-based heritability is driven by a massively polygenic background.
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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 OpenQuestion graph.