ArticleGenetics in medicine : official journal of the American College of Medical Genetics2014
Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 2 of them syntheses that pooled it.
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Who cites it
42 citing papers in PubMed, 2 syntheses or guidelines pooled it, 90 citations in OpenAlex.
- Clinical practice guideline of the Interamerican Society of Cardiology on primary prevention of cardiovascular disease in women.Archivos de cardiologia de Mexico · 2022Guideline
- Does theFMR1 gene affect IVF success?Reproductive biomedicine online · 2019Pooled it
- Gut virome dysbiosis contributes to premature ovarian insufficiency by modulating gut bacteriome.Gut microbes · 2026Article
- Large-scale analysis of FMR1 CGG repeat length and risk of premature ovarian insufficiency in over 92 000 women.Human reproduction (Oxford, England) · 2026Article
- Article
- Bridging tradition and innovation: electroacupuncture's impact on premature ovarian insufficiency.Frontiers in endocrinology · 2025Review
- Perspectives on biomarkers of reproductive aging for fertility and beyond.Nature aging · 2024Review
- Considerations in Premature Menopause: A Review.Cureus · 2024Review
- Prevalence of theGenes · 2024Article
- Current Status and Future Prospects of Stem Cell Therapy for Infertile Patients with Premature Ovarian Insufficiency.Biomolecules · 2024Review
- Improving diagnostic precision in primary ovarian insufficiency using comprehensive genetic and autoantibody testing.Human reproduction (Oxford, England) · 2024Article
- Facilitation of Ovarian Response by Mechanical Force-Latest Insight on Fertility Improvement in Women with Poor Ovarian Response or Primary Ovarian Insufficiency.International journal of molecular sciences · 2023Review
- 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
- Article
- Onco-fertility and personalized testing for potential for loss of ovarian reserve in patients undergoing chemotherapy: proposed next steps for development of genetic testing to predict changes in ovarian reserve.Fertility research and practice · 2021Review
- Article
- The significance of FMR1 CGG repeats in Chinese women with premature ovarian insufficiency and diminished ovarian reserve.Reproductive biology and endocrinology : RB&E · 2020Article
- Characterization of the Metabolic, Clinical and Neuropsychological Phenotype of Female Carriers of the Premutation in the X-LinkedFrontiers in molecular biosciences · 2020Article
- The prevalence of CGG repeat expansion mutation in FMR1 gene in the northern Chinese women of reproductive age.BMC medical genetics · 2019Article
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Authors and funding
11 authors at 5 institutions in 1 country.
Funding
Abstract
purposePrimary ovarian insufficiency before the age of 40 years affects 1% of the female population and is characterized by permanent cessation of menstruation. Genetic causes include FMR1 expansion mutations. Previous studies have estimated mutation prevalence in clinical referrals for primary ovarian insufficiency, but these are likely to be biased as compared with cases in the general population. The prevalence of FMR1 expansion mutations in early menopause (between the ages of 40 and 45 years) has not been published.
methodsWe studied FMR1 CGG repeat number in more than 2,000 women from the Breakthrough Generations Study who underwent menopause before the age of 46 years. We determined the prevalence of premutation (55-200 CGG repeats) and intermediate (45-54 CGG repeats) alleles in women with primary ovarian insufficiency (n = 254) and early menopause (n = 1,881).
resultsThe prevalence of the premutation was 2.0% in primary ovarian insufficiency, 0.7% in early menopause, and 0.4% in controls, corresponding to odds ratios of 5.4 (95% confidence interval = 1.7-17.4; P = 0.004) for primary ovarian insufficiency and 2.0 (95% confidence interval = 0.8-5.1; P = 0.12) for early menopause. Combining primary ovarian insufficiency and early menopause gave an odds ratio of 2.4 (95% confidence interval = 1.02-5.8; P = 0.04). Intermediate alleles were not significant risk factors for either early menopause or primary ovarian insufficiency.
conclusionFMR1 premutations are not as prevalent in women with ovarian insufficiency as previous estimates have suggested, but they still represent a substantial cause of primary ovarian insufficiency and early menopause.
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