ArticleGenetic epidemiology2008
Fragile X-associated primary ovarian insufficiency: evidence for additional genetic contributions to severity.
Article in Genetic epidemiology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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.
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Who cites it
17 citing papers in PubMed, 79 citations in OpenAlex.
- Mechanistic approach and therapeutic strategies in menstrual and non-menstrual migraine.Future science OA · 2025Review
- A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa.Genes · 2024Review
- Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation.Fertility and sterility · 2021Article
- The molecular mechanisms that underlie fragile X-associated premature ovarian insufficiency: is it RNA or protein based?Molecular human reproduction · 2020Review
- Fragile X Associated Primary Ovarian Insufficiency (FXPOI): Case Report and Literature Review.Frontiers in genetics · 2018Review
- Association of skewed X-chromosome inactivation with FMR1 CGG repeat length and anti-Mullerian hormone levels: a cohort study.Reproductive biology and endocrinology : RB&E · 2017Article
- Endocrine Dysfunction in Female FMR1 Premutation Carriers: Characteristics and Association with Ill Health.Genes · 2016Article
- Advances in the Understanding of the Gabaergic Neurobiology of FMR1 Expanded Alleles Leading to Targeted Treatments for Fragile X Spectrum Disorder.Current pharmaceutical design · 2015Review
- The Flat Earth Society: a rose by any other name?Human reproduction (Oxford, England) · 2014Article
- Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI).Journal of neurodevelopmental disorders · 2014Review
- Approaches to identify genetic variants that influence the risk for onset of fragile X-associated primary ovarian insufficiency (FXPOI): a preliminary study.Frontiers in genetics · 2014Article
- Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and Embryology.European journal of human genetics : EJHG · 2013Article
- Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty.Human molecular genetics · 2013Article
- Unstable mutations in the FMR1 gene and the phenotypes.Advances in experimental medicine and biology · 2012Review
- Predictors and risk model development for menopausal age in fragile X premutation carriers.Genetics in medicine : official journal of the American College of Medical Genetics · 2011Article
- Can we make assumptions about the psychosocial impact of living as a carrier, based on studies assessing the effects of carrier testing?Journal of genetic counseling · 2011Review
- A Variance-Component Framework for Pedigree Analysis of Continuous and Categorical Outcomes.Statistics in biosciences · 2009Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
The fragile X mental retardation gene (FMR1) contains a CGG repeat sequence in its 5' untranslated region that can become unstable and expand in length from generation to generation. Alleles with expanded repeats in the range of approximately 55-199, termed premutation alleles, are associated with an increased risk for fragile-X-associated primary ovarian insufficiency (FXPOI). However, not all women who carry the premutation develop FXPOI. To determine if additional genes could explain variability in onset and severity, we used a random-effects Cox proportional hazards model to analyze age at menopause on 680 women from 225 families who have a history of fragile X syndrome and 321 women from 219 families from the general population. We tested for the presence of a residual additive genetic effect after adjustment for FMR1 repeat length, race, smoking, body mass index, and method of ascertainment. Results showed significant familial aggregation of age at menopause with an estimated additive genetic variance of 0.55-0.96 depending on the parameterization of FMR1 repeat size and definition of age at menopause (P-values ranging between 0.0002 and 0.0027). This is the first study to analyze familial aggregation of FXPOI. This result is important for proper counseling of women who carry FMR1 premutation alleles and for guidance of future studies to identify additional genes that influence ovarian insufficiency.
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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.