Evidence map›Paper›PMID 38310280›Full record

Observational studyJournal of ovarian research2024

Oligogenic basis of premature ovarian insufficiency: an observational study.

Panpan Long, Le Wang, Hangjing Tan, Ruping Quan, Zihao Hu, Minghua Zeng, Ziheng Deng, Hualin Huang, Jonathan Greenbaum, Hongwen Deng and 1 more

Open access · goldAbstract readObservational Study
In one paragraph

Observational study in Journal of ovarian research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
4.9field-weighted citation impact, top 5% 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

6 citing papers in PubMed, 9 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. Article
  5. Article
  6. Premature ovarian insufficiency.Nature reviews. Disease primers · 2024
    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

11 authors at 3 institutions in 2 countries.

Panpan Long *Institute of Reproductive & Stem Cell Engineering, School of Basic Medical Science, Central South University, 88 Xiangya Road, Changsha, 410008, Hunan, China.
Le Wang *Institute of Reproductive & Stem Cell Engineering, School of Basic Medical Science, Central South University, 88 Xiangya Road, Changsha, 410008, Hunan, China.
Hangjing TanInstitute of Reproductive & Stem Cell Engineering, School of Basic Medical Science, Central South University, 88 Xiangya Road, Changsha, 410008, Hunan, China.
Ruping QuanInstitute of Reproductive & Stem Cell Engineering, School of Basic Medical Science, Central South University, 88 Xiangya Road, Changsha, 410008, Hunan, China.
Zihao HuInstitute of Reproductive & Stem Cell Engineering, School of Basic Medical Science, Central South University, 88 Xiangya Road, Changsha, 410008, Hunan, China.
Minghua ZengInstitute of Reproductive & Stem Cell Engineering, School of Basic Medical Science, Central South University, 88 Xiangya Road, Changsha, 410008, Hunan, China.
Ziheng DengInstitute of Reproductive & Stem Cell Engineering, School of Basic Medical Science, Central South University, 88 Xiangya Road, Changsha, 410008, Hunan, China.
Hualin HuangReproductive Medicine Center, Department of Obstetrics and Gynecology, The Second Xiangya Hospital, Central South University, Changsha, China.
Jonathan GreenbaumCenter of Biomedical Informatics and Genomics, Deming Department of Medicine, Tulane University School of Medicine, New Orleans, LA, USA.
Hongwen DengCenter of Biomedical Informatics and Genomics, Deming Department of Medicine, Tulane University School of Medicine, New Orleans, LA, USA.
Hongmei XiaoInstitute of Reproductive & Stem Cell Engineering, School of Basic Medical Science, Central South University, 88 Xiangya Road, Changsha, 410008, Hunan, China. hmxiao@csu.edu.cn.
Central South University · CNTulane University · USHunan University · CN

Funding

Tulane COBRE in Cardiometabolic Diseases Clinical Research CoreP20GM109036 · NIGMS · TULANE UNIVERSITY OF LOUISIANA · PI Katherine Teresa Mills · 2016 to 2026
$25.3M
Trans-omics Integration of Multi-omics Studies for OsteoporosisU19AG055373 · NIA · TULANE UNIVERSITY OF LOUISIANA · PI Chuan Qiu · 2017 to 2026
$24.3M
Intensive Lifestyle Intervention, Metabolomics, and Risk of Frailty Fracture in Overweight or Obese Patients with Type 2 DiabetesR01AG068232 · NIA · UNIVERSITY OF TENNESSEE HEALTH SCI CTR · PI JOHNSON, KAREN C, ZHAO, QI · 2021 to 2025
$3.1M
Identification of Metabolomic Profiles for Sarcopenia Traits in Older Whites and BlacksR01AG061917 · NIA · UNIVERSITY OF TENNESSEE HEALTH SCI CTR · PI SHEN, HUI, ZHAO, QI · 2019 to 2023
$3.0M
National Key Research and Development Program of China 2017YFC1001100NIA NIH HHS R01 AG061917NIA NIH HHS R01 AG068232NIA NIH HHS U19 AG055373NIGMS NIH HHS P20 GM109036
6 · The paper itself

Abstract

backgroundThe etiology of premature ovarian insufficiency, that is, the loss of ovarian activity before 40 years of age, is complex. Studies suggest that genetic factors are involved in 20-25% of cases. The aim of this study was to explore the oligogenic basis of premature ovarian insufficiency.

resultsWhole-exome sequencing of 93 patients with POI and whole-genome sequencing of 465 controls were performed. In the gene-burden analysis, multiple genetic variants, including those associated with DNA damage repair and meiosis, were more common in participants with premature ovarian insufficiency than in controls. The ORVAL-platform analysis confirmed the pathogenicity of the RAD52 and MSH6 combination.

conclusionsThe results of this study indicate that oligogenic inheritance is an important cause of premature ovarian insufficiency and provide insights into the biological mechanisms underlying premature ovarian insufficiency.

Indexed as

Menopause, PrematurePrimary Ovarian InsufficiencyFemaleHumansGene-burden analysisOligogenic inheritanceORVAL platformPremature ovarian insufficiencyWhole-exome sequencing

Identifiers

PMID38310280
PMCPMC10837925
OpenAlexW4391514634

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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 Socratic graph.