The Significance of Fragile X Mental Retardation Gene 1 CGG Repeat Sizes in the Normal and Intermediate Range in Women With Primary Ovarian Insufficiency
| العنوان: | The Significance of Fragile X Mental Retardation Gene 1 CGG Repeat Sizes in the Normal and Intermediate Range in Women With Primary Ovarian Insufficiency |
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| المؤلفون: | Voorhuis, M., Onland-Moret, N.C., Janse, F., Amstel, H.K. van, Goverde, A.J., Lambalk, C.B., Laven, J.S.E., Schouw, Y.T. van der, Broekmans, F.J., Fauser, B.C.J.M., Beerendonk, C.C. |
| المساهمون: | Reproductive Origins of Adult Health and Disease (ROAHD), Obstetrics & Gynecology, Obstetrics and gynaecology, ICaR - Ischemia and repair |
| المصدر: | Human Reproduction, 29, 7, pp. 1585-93 Scopus-Elsevier Human Reproduction, 29(7), 1585-1593. Oxford University Press Human Reproduction, 29, 1585-93 Voorhuis, M, Onland-Moret, N C, Janse, F, van Amstel, H K P, Goverde, A J, Lambalk, C B, Laven, J S E, van der Schouw, Y T, Broekmans, F J M & Fauser, B C J M 2014, ' The significance of fragile X mental retardation gene 1 CGG repeat sizes in the normal and intermediate range in women with primary ovarian insufficiency ', Human Reproduction, vol. 29, no. 7, pp. 1585-1593 . https://doi.org/10.1093/humrep/deu095Test |
| بيانات النشر: | Ovid Technologies (Wolters Kluwer Health), 2014. |
| سنة النشر: | 2014 |
| مصطلحات موضوعية: | Fragile x, FMR1 GENE, Range (biology), Primary ovarian insufficiency, menopause, Cohort Studies, Fragile X Mental Retardation Protein, ovarian ageing, NUMBER, Trinucleotide Repeats, Odds Ratio, FAILURE, NATURAL MENOPAUSE, CGG repeats, POPULATION, Genetics, education.field_of_study, Rehabilitation, Obstetrics and Gynecology, ASSOCIATION, General Medicine, Middle Aged, Prognosis, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], Fragile X syndrome, Menopause, PREMUTATION CARRIERS, Exact test, Cgg repeat, Female, Adult, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, Population, Young Adult, AGE, SDG 3 - Good Health and Well-being, medicine, Humans, Allele, education, Gene, Alleles, Gynecology, IDENTIFICATION, business.industry, INFERTILE WOMEN, Odds ratio, medicine.disease, FMR1, fragile X mental retardation gene 1, Confidence interval, primary ovarian insufficiency, nervous system diseases, Reproductive Medicine, Case-Control Studies, Trinucleotide Repeat Expansion, business |
| الوصف: | Contains fulltext : 137075.pdf (Publisher’s version ) (Closed access) STUDY QUESTION: Are fragile X mental retardation gene 1 (FMR1) CGG repeats in the normal and intermediate range (up to 55 repeats) associated with primary ovarian insufficiency (POI) in a large case-control study? SUMMARY ANSWER: No association was found between CGG repeats of intermediate size and POI compared with controls. WHAT IS KNOWN ALREADY: CGG repeats in the FMR1 gene in the premutation range (55-200 repeats) have consistenly associated with POI. Intermediate range CGG repeats have been considered for a potential association with POI. STUDY DESIGN, SIZE: A case-control study in 375 well-phenotyped Dutch women diagnosed with POI and 3368 controls with natural menopause >/=40 years of age. PARTICIPANTS/MATERIALS, SETTING, METHODS: The FMR1 CGG repeat number was determined by PCR amplification in women diagnosed with POI and women with a known age at natural menopause >/=40 years. The prevalence of intermediate sized CGG repeats (45-54 repeats) was compared between POI cases and controls using Fisher's exact test. Differences in mean CGG repeat lengths on allele 1 and allele 2 between POI cases and controls were tested using analysis of variance. MAIN RESULTS AND THE ROLE OF CHANCE: The frequency of intermediate sized CGG repeats on the allele with the longest triple repeat number was not statistically significantly different between POI cases and controls (2.7 and 3.8%, respectively, odds ratio 0.72, 95% confidence interval: 0.38-1.39, P = 0.38). In women with POI, linear regression analysis for age at POI diagnosis and CGG repeat size also failed to show any association (beta = -0.018, P = 0.74). LIMITATIONS, REASONS FOR CAUTION: FMR1 CGG repeat lengths in POI cases and controls were genotyped in two different laboratories. The distributions of CGG repeats may vary among the different ethnic populations in our study. Also, in our study women with primary amenorrhea (N = 17) were included in the POI group. WIDER IMPLICATIONS OF THE FINDINGS: We found no association between intermediate sized CGG repeats and POI compared with controls. Therefore, a role for FMR1 CGG repeat sizes up to 55 repeats in the ovarian ageing process may be questioned. Moreover, there seems limited value in the evaluation of normal- and intermediate FMR1 repeat size in the diagnostic work-up of women affected by POI, or for prognostic purposes in women at risk of developing POI. STUDY FUNDING/COMPETING INTERESTS: The Prospect-EPIC study was funded by 'Europe Against Cancer' Program of the European Commission (SANCO); the Dutch Ministry of Health; the Dutch Cancer Society; ZonMW the Netherlands Organization for Health Research and Development; World Cancer Research Fund (WCRF) and the Dutch Heart Association. |
| وصف الملف: | application/pdf |
| تدمد: | 0029-7828 0268-1161 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86a7d63382fa1d32de014b7b8c0d208fTest https://doi.org/10.1097/01.ogx.0000458796.68132.daTest |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....86a7d63382fa1d32de014b7b8c0d208f |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 00297828 02681161 |
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