ArticleNature medicine2025
Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses.
Article in Nature medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 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
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
13 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genome-wide meta-analysis identifies genetic drivers of bile acid metabolism in intrahepatic cholestasis of pregnancy.Nature communications · 2026Pooled it
- Polymorphic Variant Associated with Sex Hormone-Binding Globulin Level Is a Risk Factor for Preeclampsia.International journal of molecular sciences · 2026Article
- From polygenic risk to functional genomics: a framework for precision gynecological disease modeling.Nature communications · 2026Review
- Plasma proteomic signature of the human menstrual cycle.Nature medicine · 2026Article
- Extensive antagonistic variants across the human genome.Nature communications · 2026Article
- Prescribed hormonal contraceptive use trends in the Estonian Biobank: A longitudinal observational study.PLoS medicine · 2026Observational
- Advanced maternal age and assisted reproductive technologies: outcomes, genomics, and real-world evidence.Frontiers in reproductive health · 2026Review
- Sex-Stratified Genetic Analyses Mapping the Influences of Sedentary Behaviors and Physical Activity on Female Reproductive Health.Research (Washington, D.C.) · 2026Article
- The "double-edged sword" effect of non-steroidal anti-inflammatory drugs (NSAIDs) in the treatment of endometriosis (EMS).Reproductive biology and endocrinology : RB&E · 2025Article
- Gene Polymorphisms Determining Sex Hormone-Binding Globulin Levels and Endometriosis Risk.International journal of molecular sciences · 2025Article
- Precision Therapeutic and Preventive Molecular Strategies for Endometriosis-Associated Infertility.International journal of molecular sciences · 2025Review
- Intrahepatic cholestasis of pregnancy.Nature reviews. Disease primers · 2025Review
- Beyond BMI: A Mendelian Randomization Study of the Causal Effects and Mediating Pathways of Regional Adipose Tissue Depots on Polycystic Ovary Syndrome.International journal of women's health · 2025Article
Corrections and comments
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Authors and funding
16 authors.
Funding
Abstract
The genetic background of many female reproductive health diagnoses remains uncharacterized, compromising our understanding of the underlying biology. Here, we map the genetic architecture across 42 female-specific health conditions using data from up to 293,618 women from two large population-based cohorts, the Estonian Biobank and the FinnGen study. Our study illustrates the utility of genetic analyses in understanding women's health better. As specific examples, we describe genetic risk factors for ovarian cysts that elucidate the genetic determinants of folliculogenesis and, by leveraging population-specific variants, uncover new candidate genes for uterine fibroids. We find that most female reproductive health diagnoses have a heritable component, with varying degrees of polygenicity and discoverability. Finally, we identify pleiotropic loci and genes that function in genital tract development (WNT4, PAX8, WT1, SALL1), hormonal regulation (FSHB, GREB1, BMPR1B, SYNE1/ESR1) and folliculogenesis (CHEK2), underlining their integral roles in female reproductive health.
Indexed as
Identifiers
40069456What Socratic 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 Socratic graph.