SynthesisHuman molecular genetics2013
A genome-wide association study of early menopause and the combined impact of identified variants.
Synthesis in Human molecular genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 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
51 citing papers in PubMed, 4 syntheses or guidelines pooled it, 125 citations in OpenAlex.
- Pharmacogenomic studies of fertility outcomes in pediatric cancer survivors - A systematic review.Clinical and translational science · 2024Pooled it
- Possible modification of BRSK1 on the risk of alkylating chemotherapy-related reduced ovarian function.Human reproduction (Oxford, England) · 2021Pooled it
- Genetic associations with age of menopause in familial longevity.Menopause (New York, N.Y.) · 2019Pooled it
- Meta-analysis of loci associated with age at natural menopause in African-American women.Human molecular genetics · 2014Pooled it
- Polymorphism of theLife (Basel, Switzerland) · 2026Article
- Article
- Interindividual variation in ovarian reserve after gonadotoxic treatment in female childhood cancer survivors - a genome-wide association study: results from PanCareLIFE.Fertility and sterility · 2024Article
- Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency.Nature genetics · 2024Article
- Novel compound heterozygous variants in FANCI cause premature ovarian insufficiency.Human genetics · 2024Article
- Micronutrients intake and genetic variants associated with premature ovarian insufficiency; MASHAD cohort study.BMC women's health · 2024Article
- Association between Genetic Variants Linked to Premature Ovarian Insufficiency and Inflammatory Markers: A Cross-Sectional Study.International journal of fertility & sterility · 2024Article
- Hematological Indices and Genetic Variants of Premature Ovarian Insufficiency: Machine Learning Approaches.Cardiovascular & hematological disorders drug targets · 2024Article
- Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency.Nature medicine · 2023Article
- Selected Genetic Factors Associated with Primary Ovarian Insufficiency.International journal of molecular sciences · 2023Review
- Review of mendelian randomization studies on age at natural menopause.Frontiers in endocrinology · 2023Review
- Multi-omics and machine learning for the prevention and management of female reproductive health.Frontiers in endocrinology · 2023Review
- Ovarian Reserve Disorders, Can We Prevent Them? A Review.International journal of molecular sciences · 2022Review
- White paper: Oncofertility in pediatric patients with Wilms tumor.International journal of cancer · 2022Article
- Genetically Determined Reproductive Aging and Coronary Heart Disease: A Bidirectional 2-sample Mendelian Randomization.The Journal of clinical endocrinology and metabolism · 2022Article
- Rare coding variants in DNA damage repair genes associated with timing of natural menopause.HGG advances · 2022Article
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Authors and funding
67 authors at 20 institutions in 9 countries.
Funding
Abstract
Early menopause (EM) affects up to 10% of the female population, reducing reproductive lifespan considerably. Currently, it constitutes the leading cause of infertility in the western world, affecting mainly those women who postpone their first pregnancy beyond the age of 30 years. The genetic aetiology of EM is largely unknown in the majority of cases. We have undertaken a meta-analysis of genome-wide association studies (GWASs) in 3493 EM cases and 13 598 controls from 10 independent studies. No novel genetic variants were discovered, but the 17 variants previously associated with normal age at natural menopause as a quantitative trait (QT) were also associated with EM and primary ovarian insufficiency (POI). Thus, EM has a genetic aetiology which overlaps variation in normal age at menopause and is at least partly explained by the additive effects of the same polygenic variants. The combined effect of the common variants captured by the single nucleotide polymorphism arrays was estimated to account for ∼30% of the variance in EM. The association between the combined 17 variants and the risk of EM was greater than the best validated non-genetic risk factor, smoking.
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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.