Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency
| Autor: | Minouk J. Schoemaker, Sarah Ennis, Anna Murray, Danielle H. Morris, Claire E. Bennett, Anthony J. Swerdlow, Alan Ashworth, Patricia A. Jacobs, Nick Orr, Michael Jones, James N. Macpherson |
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| Rok vydání: | 2014 |
| Předmět: |
Adult
medicine.medical_specialty endocrine system diseases Population Menopause Premature menopause Primary Ovarian Insufficiency Biology Menstruation Fragile X Mental Retardation Protein expansion Journal Article medicine Humans Original Research Article Prospective Studies Prospective cohort study education FMR1 Genetics (clinical) Gynecology education.field_of_study POI Research Support Non-U.S. Gov't Case-control study Genetic Variation Odds ratio Middle Aged medicine.disease United Kingdom Confidence interval 3. Good health Menopause premutation Logistic Models Case-Control Studies Linear Models Female Trinucleotide Repeat Expansion |
| Zdroj: | Murray, A, Schoemaker, M J, Bennett, C E, Ennis, S, Macpherson, J N, Jones, M, Morris, D H, Orr, N, Ashworth, A, Jacobs, P A & Swerdlow, A J 2014, ' Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 16, no. 1, pp. 19-24 . https://doi.org/10.1038/gim.2013.64 Genetics in Medicine |
| ISSN: | 1098-3600 |
| DOI: | 10.1038/gim.2013.64 |
| Popis: | PURPOSE: Primary 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.METHODS: We 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).RESULTS: The 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.CONCLUSION: FMR1 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. |
| Databáze: | OpenAIRE |
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