ArticleHGG advances2022
Rare coding variants in DNA damage repair genes associated with timing of natural menopause.
Article in HGG advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled 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.
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.
Who cites it
22 citing papers in PubMed, 2 syntheses or guidelines pooled it, 51 citations in OpenAlex.
- Body mass index stratified meta-analysis of genome-wide association studies of polycystic ovary syndrome in women of European ancestry.BMC genomics · 2024Pooled it
- Leveraging Northern European population history: novel low-frequency variants for polycystic ovary syndrome.Human reproduction (Oxford, England) · 2022Pooled it
- Structural elements required for the efficient loading and activation of HELB on RPA-coated single-stranded DNA.bioRxiv : the preprint server for biology · 2026Article
- Reproductive Fitness and the Links to Chronic Disease and Systemic Aging.Physiology (Bethesda, Md.) · 2026Review
- Later age of natural menopause among women with the pathogenicJournal of medical genetics · 2026Article
- Review
- Genetic variants in HELB contribute to premature ovarian insufficiency and early age of natural menopause.JCI insight · 2025Article
- Distribution of age at natural menopause, age at menarche, menstrual cycle length, height and BMI in BRCA1 and BRCA2 pathogenic variant carriers and non-carriers: results from EMBRACE.Breast cancer research : BCR · 2025Article
- Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses.Nature medicine · 2025Article
- Breast Cancer Is Increased in Women With Primary Ovarian Insufficiency.The Journal of clinical endocrinology and metabolism · 2025Article
- Rare SNP in theNAR molecular medicine · 2025Article
- Exome sequencing identifies HELB as a novel susceptibility gene for non-mucinous, non-high-grade-serous epithelial ovarian cancer.European journal of human genetics : EJHG · 2025Article
- Single-cell and bulk transcriptional profiling of mouse ovaries reveals novel genes and pathways associated with DNA damage response in oocytes.Developmental biology · 2025Article
- Unveiling therapeutic targets and preventive components for kidney insufficiency and blood stasis-type BPH: bridging metabolomics, network pharmacology and reverse screening.Frontiers in pharmacology · 2025Article
- Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency.Nature genetics · 2024Article
- Article
- Article
- Single-cell and bulk transcriptional profiling of mouse ovaries reveals novel genes and pathways associated with DNA damage response in oocytes.bioRxiv : the preprint server for biology · 2024Article
- Genome mining yields putative disease-associated ROMK variants with distinct defects.PLoS genetics · 2023Article
- Genetic insights into the age-specific biological mechanisms governing human ovarian aging.American journal of human genetics · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The age of menopause is associated with fertility and disease risk, and its genetic control is of great interest. We use whole-exome sequences from 132,370 women in the UK Biobank to test for associations between rare damaging variants and age at natural menopause. Rare damaging variants in five genes are significantly associated with menopause:
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.