ArticleEuropean journal of human genetics : EJHG2021
Sex-specific genetic effects across biomarkers.
Article in European journal of human genetics : EJHG, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
53 citing papers in PubMed, 4 syntheses or guidelines pooled it, 104 citations in OpenAlex.
- Discovery of novel ancestry specific genes for androgens and hypogonadism in Million Veteran Program Men.Nature communications · 2025Pooled it
- Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis.Genome biology · 2022Pooled it
- Identifying and ranking causal biochemical biomarkers for breast cancer: a Mendelian randomisation study.BMC medicine · 2022Pooled it
- Genomic study of maternal lipid traits in early pregnancy concurs with four known adult lipid loci.Journal of clinical lipidologyPooled it
- GeneSIS: enhancing transferability of polygenic scores with variant-level gene-by-sex interaction effects.bioRxiv : the preprint server for biology · 2026Article
- Evaluating a Genome-Wide Polygenic Score for Handgrip Strength and Its Interplay with Leisure-Time Physical Activity Across the IGEMS Twin Cohorts.Medicine and science in sports and exercise · 2026Article
- A study of sex-specific genetic effects underlying risk of orofacial clefts also highlights the potential impact of sequencing errors due to short read mis-mapping.medRxiv : the preprint server for health sciences · 2026Article
- Exploring sex-specific causal links between thousands of proteins and lipid metabolism using the UK Biobank Pharma Proteomics Project data.Biology of sex differences · 2026Article
- Sex-stratified polygenic risk scores for coronary artery disease incidence: Insights from a 20-year cohort study.BMC cardiovascular disorders · 2026Article
- Article
- From Serum to Genome: γ-Glutamyltransferase Gene Family Variants Shape Ischemic Stroke Risk via Sex-Specific Gene-Environment Interactions.Life (Basel, Switzerland) · 2026Article
- Effects of testosterone on gene expression in males and females across 40 human tissues.Scientific reports · 2026Article
- Unravelling the role of alanine in mental disorders: a Mendelian randomisation study.Journal of nutritional science · 2026Article
- A Genetic Risk Prediction Model for Coronary Artery Disease Integrating CYP17A1 Polymorphisms and Clinical Variables in a Chinese Population.International journal of general medicine · 2026Article
- Concordance between male- and female-specific GWAS results helps define underlying genetic architecture of complex traits.Nature communications · 2025Article
- Genetic associations of metabolic factors and therapeutic drug targets with polycystic ovary syndrome.Journal of advanced research · 2025Article
- Identification and replication of sex-dimorphic protein quantitative trait loci across multiple ancestries and their associations with diseases.Scientific reports · 2025Article
- Local genetic sex differences in quantitative traits.Nature communications · 2025Article
- Role of X chromosome and dosage-compensation mechanisms in complex trait genetics.American journal of human genetics · 2025Article
- Genetic Liability to Higher Muscle Strength Associates With a Lower Risk of Cardiovascular Disease Mortality in Men Irrespective of Leisure-Time Physical Activity in Adulthood: A Longitudinal Cohort Study.Journal of the American Heart Association · 2025Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
Sex differences have been shown in laboratory biomarkers; however, the extent to which this is due to genetics is unknown. In this study, we infer sex-specific genetic parameters (heritability and genetic correlation) across 33 quantitative biomarker traits in 181,064 females and 156,135 males from the UK Biobank study. We apply a Bayesian Mixture Model, Sex Effects Mixture Model (SEMM), to Genome-wide Association Study summary statistics in order to (1) estimate the contributions of sex to the genetic variance of these biomarkers and (2) identify variants whose statistical association with these traits is sex-specific. We find that the genetics of most biomarker traits are shared between males and females, with the notable exception of testosterone, where we identify 119 female and 445 male-specific variants. These include protein-altering variants in steroid hormone production genes (POR, UGT2B7). Using the sex-specific variants as genetic instruments for Mendelian randomization, we find evidence for causal links between testosterone levels and height, body mass index, waist and hip circumference, and type 2 diabetes. We also show that sex-specific polygenic risk score models for testosterone outperform a combined model. Overall, these results demonstrate that while sex has a limited role in the genetics of most biomarker traits, sex plays an important role in testosterone genetics.
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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.