ArticleAmerican journal of human genetics2000
Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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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.
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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
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 130 citations in OpenAlex.
- Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors.Journal of genetic counseling · 2005Guideline
- Current understanding of the genomic abnormities in premature ovarian failure: chance for early diagnosis and management.Frontiers in medicine · 2023Review
- Review
- Endocrine Dysfunction in Female FMR1 Premutation Carriers: Characteristics and Association with Ill Health.Genes · 2016Article
- Ovarian aging and premature ovarian failure.Journal of the Turkish German Gynecological Association · 2014Review
- Pathogenesis and causes of premature ovarian failure: an update.International journal of fertility & sterility · 2011Review
- FMR1: a gene with three faces.Biochimica et biophysica acta · 2009Review
- Expression of three zebrafish orthologs of human FMR1-related genes and their phylogenetic relationships.Development genes and evolution · 2004Article
- The imprinted gene and parent-of-origin effect database.Nucleic acids research · 2001Article
- Premature ovarian failure is associated with maternally and paternally inherited premutation in Brazilian families with fragile X.American journal of human genetics · 2000Article
- Premature ovarian failure among fragile X premutation carriers: parent-of-origin effect?American journal of human genetics · 2000Article
- No evidence for parent of origin influencing premature ovarian failure in fragile X premutation carriers.American journal of human genetics · 2000Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fragile X premutations are considered to be a risk factor for premature ovarian failure (POF), which is usually defined as menopause at age <40 years. Since premutations may be inherited from either the mother or the father, we evaluated the influence of the inheritance pattern on the duration of reproductive life in female carriers. The occurrence of POF and age at menopause in women with a paternally inherited fragile X premutation (PIP) were compared to those in women with a maternally inherited fragile X premutation (MIP). We identified 148 women in whom the parental origin of the premutation could be determined. In 109 of these women we were able to establish whether POF had occurred: 82 women had a PIP, and 27 had a MIP. Twenty-three of the women (28%) with a PIP had POF, versus only 1 (3.7%) with a MIP (two -tailed Fisher's exact test; P=. 007). Kaplan-Meier analysis of all 148 premutations showed that the age at menopause was significantly lower in the women with a PIP than in the woman with a MIP (Breslow test in Kaplan-Meier analysis; P=.003). Our data strongly suggest that, when POF occurs in fragile X premutation carriers, a considerable proportion of the premutations are inherited paternally (parent-of-origin effect). We hypothesize that this may be owing to a paternal genomic imprinting effect.
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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.