Evidence map›Paper›PMID 25050920›Full record

ArticlePloS one2014

FMR1 premutation is an uncommon explanation for premature ovarian failure in Han Chinese.

Ting Guo, Yingying Qin, Xue Jiao, Guangyu Li, Joe Leigh Simpson, Zi-Jiang Chen

Open access · goldAbstract read

In one paragraph

Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it

0cells of the map it votes in

9citing papers in PubMed, 1 pooled it

2.3field-weighted citation impact, top 11% of its field

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.

The Genetics of Non-Syndromic Primary Ovarian Insufficiency: A Systematic Review.International journal of fertility & sterility · 2019
Pooled it
X chromosome rearrangement associated with premature ovarian insufficiency as diagnosed by molecular cytogenetic methods: a case report and review of the literature.Molecular cytogenetics · 2024
Article
Rare variants in GPR3 in POI patients: a case series with review of literature.Journal of ovarian research · 2023
Review
Stress Granules as Causes and Consequences of Translation Suppression.Antioxidants & redox signaling · 2023
Review
Current understanding of the genomic abnormities in premature ovarian failure: chance for early diagnosis and management.Frontiers in medicine · 2023
Review
Genetic etiologic analysis in 74 Chinese Han women with idiopathic premature ovarian insufficiency by combined molecular genetic testing.Journal of assisted reproduction and genetics · 2021
Article
The significance of FMR1 CGG repeats in Chinese women with premature ovarian insufficiency and diminished ovarian reserve.Reproductive biology and endocrinology : RB&E · 2020
Article
Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations.BMC medical genetics · 2018
Article
Genetics of primary ovarian insufficiency: new developments and opportunities.Human reproduction update
Review

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 4 institutions in 2 countries.

Ting GuoCenter for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, The Key laboratory for Reproductive Endocrinology of Ministry of Education, Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China.

Yingying QinCenter for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, The Key laboratory for Reproductive Endocrinology of Ministry of Education, Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China.

Xue JiaoCenter for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, The Key laboratory for Reproductive Endocrinology of Ministry of Education, Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China.

Guangyu LiCenter for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, The Key laboratory for Reproductive Endocrinology of Ministry of Education, Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China.

Joe Leigh SimpsonResearch and Global Programs March of Dimes Foundation, White Plains, New York, United States of America; Human & Molecular Genetics, Obstetrics and Gynecology, Herbert Wertheim College of Medicine, Florida International University, Miami, Florida, United States of America.

Zi-Jiang ChenCenter for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, The Key laboratory for Reproductive Endocrinology of Ministry of Education, Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China; Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Shandong Provincial Hospital · CNShandong University · CNMarch of Dimes · USShanghai Jiao Tong University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundIn premature ovarian failure (POF), cessation of menstruation occurs before the expected age of menopause. Approximately 1% of women are affected. FMR1 premutation was reported to be responsible for up to 3.3%-6.7% of sporadic POF and 13% of familial cases in Caucasians, while the data was absent in Chinese population. Therefore, the impact of FMR1 CGG repeat on ovarian reserve is needed to be investigated in large Chinese cohort.

methodsThe number of FMR1 CGG repeat was determined in 379 Han Chinese women with well-defined 46, XX non-syndromic sporadic POF and 402 controls. The age of menopause onset in respect to CGG repeats was further analyzed.

resultsThe frequency of FMR1 premutation in Han Chinese POF was only 0.5% (2/379), although it was higher than that in matched controls (0%, 0/402), it was much lower than that reported in Caucasian with POF (3.3%-6.7%). The prevalence of intermediate FMR1 (41-54) was not increased significantly in sporadic POF than that in controls (2.9% vs. 1.7%, P = 0.343). However, POF patients more often carried a single additional CGG repeat in a single allele than did fertile women (allele-1: 29.7 vs. 28.8, P<0.001; allele-2: 32.6 vs. 31.5, P < 0.001). POF patients with both alleles of CGG repeats outside (below or above) the normal range (26-34) showed an earlier age of cessation of menses than those with two alleles within normal range (hom-high/high vs. norm: 20.4 ± 4.8 vs. 24.7 ± 6.4, p < 0.01; hom-low/high vs. norm: 18.7 ± 1.7 vs. 24.7 ± 6.4, p < 0.01).

conclusionsFMR1 premutation seems to be an uncommon explanation for POF in Han Chinese. However, having both alleles with CGG repeats outside the normal range might still adversely affect ovarian aging.

Indexed as

AdultAgingAllelesAsian PeopleChinaFemaleFragile X Messenger Ribonucleoprotein 1GenotypeHumansMenopauseOvaryPrimary Ovarian InsufficiencyTrinucleotide RepeatsFMR1 protein, humanFragile X Messenger Ribonucleoprotein 1

Identifiers

PMID25050920

DOI10.1371/journal.pone.0103316

PMCPMC4106897

OpenAlexW2049520271

What OpenQuestion holds

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LicenceCC BY

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Registered trials

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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.