ArticleEuropean journal of human genetics : EJHG2016
Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers, 8 of them syntheses that pooled it.
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Who cites it
67 citing papers in PubMed, 8 syntheses or guidelines pooled it, 133 citations in OpenAlex.
- Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry.BMC genomics · 2024Pooled it
- Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity.Human reproduction (Oxford, England) · 2024Pooled it
- The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions.Nature genetics · 2023Pooled it
- A multi-level investigation of the genetic relationship between endometriosis and ovarian cancer histotypes.Cell reports. Medicine · 2022Pooled it
- Pooled it
- Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.Nature communications · 2019Pooled it
- Genome-wide association meta-analysis for total thyroid hormone levels in Croatian population.Journal of human genetics · 2019Pooled it
- Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism.Nature communications · 2017Pooled it
- Genetic Variation in Steroid and Xenobiotic Metabolizing Pathways and Enterolactone Excretion Before and After Flaxseed Intervention in African American and European American Women.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2019Trial
- Polymorphic Variant Associated with Sex Hormone-Binding Globulin Level Is a Risk Factor for Preeclampsia.International journal of molecular sciences · 2026Article
- The effects of androgens on drug metabolism and transport: clinical pharmacologic considerations for people assigned female at birth.Expert opinion on drug metabolism & toxicology · 2026Article
- BMI-Dependent Correlations of Sex Hormone Genes with Simple Endometrial Hyperplasia.Life (Basel, Switzerland) · 2026Article
- Genomic analyses implicate hormonal and metabolic dysregulation in polycystic ovary syndrome.Nature genetics · 2026Article
- Anti-aging effects of the adrenal androgens dehydroepiandrosterone and dehydroepiandrosterone sulfate: mechanisms of action and beneficial effects in older people.Endocrine journal · 2026Review
- Gene Polymorphisms Determining Sex Hormone-Binding Globulin Levels and Endometriosis Risk.International journal of molecular sciences · 2025Article
- Obesity/Overweight as a Meaningful Modifier of Associations Between Gene Polymorphisms Affecting the Sex Hormone-Binding Globulin Content and Uterine Myoma.Life (Basel, Switzerland) · 2025Article
- Genetic analysis of stress hormone levels in hair of healthy nursery pigs and their relationships with backtest responses.Genetics · 2025Article
- Genetic Variants Linked with the Concentration of Sex Hormone-Binding Globulin Correlate with Uterine Fibroid Risk.Life (Basel, Switzerland) · 2025Article
- Shared Pathophysiological Mechanisms and Genetic Factors in Early Menarche and Polycystic Ovary Syndrome.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Review
- Boys born with hypospadias and fetal growth restriction exhibit shorter anogenital distances: a retrospective cross-sectional study.Frontiers in pediatrics · 2025Article
7 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
16 authors at 7 institutions in 4 countries.
Funding
Abstract
Genetic factors contribute strongly to sex hormone levels, yet knowledge of the regulatory mechanisms remains incomplete. Genome-wide association studies (GWAS) have identified only a small number of loci associated with sex hormone levels, with several reproductive hormones yet to be assessed. The aim of the study was to identify novel genetic variants contributing to the regulation of sex hormones. We performed GWAS using genotypes imputed from the 1000 Genomes reference panel. The study used genotype and phenotype data from a UK twin register. We included 2913 individuals (up to 294 males) from the Twins UK study, excluding individuals receiving hormone treatment. Phenotypes were standardised for age, sex, BMI, stage of menstrual cycle and menopausal status. We tested 7,879,351 autosomal SNPs for association with levels of dehydroepiandrosterone sulphate (DHEAS), oestradiol, free androgen index (FAI), follicle-stimulating hormone (FSH), luteinizing hormone (LH), prolactin, progesterone, sex hormone-binding globulin and testosterone. Eight independent genetic variants reached genome-wide significance (P<5 × 10(-8)), with minor allele frequencies of 1.3-23.9%. Novel signals included variants for progesterone (P=7.68 × 10(-12)), oestradiol (P=1.63 × 10(-8)) and FAI (P=1.50 × 10(-8)). A genetic variant near the FSHB gene was identified which influenced both FSH (P=1.74 × 10(-8)) and LH (P=3.94 × 10(-9)) levels. A separate locus on chromosome 7 was associated with both DHEAS (P=1.82 × 10(-14)) and progesterone (P=6.09 × 10(-14)). This study highlights loci that are relevant to reproductive function and suggests overlap in the genetic basis of hormone regulation.
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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.