ArticleNature medicine2020
Using human genetics to understand the disease impacts of testosterone in men and women.
Article in Nature medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 420 papers, 12 of them syntheses that pooled it.
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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
420 citing papers in PubMed, 12 syntheses or guidelines pooled it, 743 citations in OpenAlex.
- Genetic drivers of etiologic heterogeneity in thyroid cancer.Nature communications · 2026Pooled it
- Causality and potential drug targets for hyperandrogenism and anovulation-related infertility: two-sample Mendelian randomization and colocalization analyses.Journal of ovarian research · 2025Pooled it
- Multi-ancestry investigation of the genomics of erectile dysfunction.Nature communications · 2025Pooled it
- The impact of cannabis use on erectile dysfunction and sex hormones: a Mendelian randomization analysis.International journal of impotence research · 2025Pooled it
- Genome-wide association meta-analysis of human olfactory identification discovers sex-specific and sex-differential genetic variants.Nature communications · 2025Pooled it
- Discovery of novel ancestry specific genes for androgens and hypogonadism in Million Veteran Program Men.Nature communications · 2025Pooled it
- Sex hormones and reproductive factors with cardiac arrhythmia and ECG indices: a mendelian randomization study.BMC cardiovascular disorders · 2024Pooled it
- Osteoporosis and Primary Biliary Cholangitis: A Trans-ethnic Mendelian Randomization Analysis.Clinical reviews in allergy & immunology · 2024Pooled 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
- Risk factors for prostate cancer: An umbrella review of prospective observational studies and mendelian randomization analyses.PLoS medicine · 2024Pooled it
- X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements.Nature communications · 2024Pooled it
- Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity.Human reproduction (Oxford, England) · 2024Pooled it
- MASLD, diabetes and PMOS across the female life stages.Diabetologia · 2026Review
- Gut dysbiosis, blood pressure regulation, and cardiometabolic risk in polyendocrine metabolic ovarian syndrome (PMOS).Reviews in endocrine & metabolic disorders · 2026Review
- Sex-Specific Lipid, Apolipoprotein B, and Lipoprotein(a) Responses to Berberine Based on 2 Randomized Placebo-Controlled Trials.JACC. Asia · 2026Article
- Immunohistochemical evaluation of androgen receptor expression in endometrial carcinoma and its clinicopathological significance.Diagnostic pathology · 2026Article
- A single-nuclei multiomics resource across four brain regions prioritises human neural cell types influencing brain-related traits.bioRxiv : the preprint server for biology · 2026Article
- Machine learning and statistical methods for molecular quantitative trait loci.Nature reviews. Genetics · 2026Review
- Polymorphic Variant Associated with Sex Hormone-Binding Globulin Level Is a Risk Factor for Preeclampsia.International journal of molecular sciences · 2026Article
- GeneSIS: enhancing transferability of polygenic scores with variant-level gene-by-sex interaction effects.bioRxiv : the preprint server for biology · 2026Article
360 more citing papers are in PubMed but not listed here.
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Authors and funding
23 authors at 5 institutions in 3 countries.
Funding
Abstract
Testosterone supplementation is commonly used for its effects on sexual function, bone health and body composition, yet its effects on disease outcomes are unknown. To better understand this, we identified genetic determinants of testosterone levels and related sex hormone traits in 425,097 UK Biobank study participants. Using 2,571 genome-wide significant associations, we demonstrate that the genetic determinants of testosterone levels are substantially different between sexes and that genetically higher testosterone is harmful for metabolic diseases in women but beneficial in men. For example, a genetically determined 1 s.d. higher testosterone increases the risks of type 2 diabetes (odds ratio (OR) = 1.37 (95% confidence interval (95% CI): 1.22-1.53)) and polycystic ovary syndrome (OR = 1.51 (95% CI: 1.33-1.72)) in women, but reduces type 2 diabetes risk in men (OR = 0.86 (95% CI: 0.76-0.98)). We also show adverse effects of higher testosterone on breast and endometrial cancers in women and prostate cancer in men. Our findings provide insights into the disease impacts of testosterone and highlight the importance of sex-specific genetic analyses.
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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.