Observational studyThe Journal of clinical endocrinology and metabolism2022
Causal and Candidate Gene Variants in a Large Cohort of Women With Primary Ovarian Insufficiency.
Observational study in The Journal of clinical endocrinology and metabolism, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed.
- STAG3 c.2776C > T, p.Arg926Ter is a recurrent variant in Russian patients with early-onset premature ovarian insufficiency.Journal of assisted reproduction and genetics · 2026Article
- From Genes to Lives: Integrating the Complexities of Primary Ovarian Insufficiency.International journal of molecular sciences · 2026Review
- Pyroptosis in premature ovarian insufficiency: pathogenic mechanisms, pathway crosstalk, and therapeutic strategies.Frontiers in medicine · 2026Review
- HELQ Maintains Genome Stability of Primordial Germ Cells by Inhibiting LINE-1 Expression.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025Article
- Association of menarche, menopause, and reproductive history with cognitive performance in older US women: a cross-sectional study from NHANES 2011-2014.BMC public health · 2025Article
- Breast Cancer Is Increased in Women With Primary Ovarian Insufficiency.The Journal of clinical endocrinology and metabolism · 2025Article
- Azoospermia/Oligozoospermia and Prostate Cancer Are Increased in Families of Women With Primary Ovarian Insufficiency.Journal of the Endocrine Society · 2025Article
- MGA loss-of-function variants cause premature ovarian insufficiency.The Journal of clinical investigation · 2024Article
- Identifying therapeutic targets for primary ovarian insufficiency through integrated genomic analyses.Journal of ovarian research · 2024Article
- Premature ovarian insufficiency.Nature reviews. Disease primers · 2024Review
- Genome-Wide Analysis of Exertional Rhabdomyolysis in Sickle Cell Trait Positive African Americans.Genes · 2024Article
- A Human HomozygousGenes · 2024Article
- Family size for women with primary ovarian insufficiency and their relatives.Human reproduction (Oxford, England) · 2023Article
- DIS3 Variants are Associated With Primary Ovarian Insufficiency: Importance of Transcription/Translation in Oogenesis.The Journal of clinical endocrinology and metabolism · 2023Observational
- Ubiquitin-specific peptidases: Players in bone metabolism.Cell proliferation · 2023Review
- Hormones and Aging: An Endocrine Society Scientific Statement.The Journal of clinical endocrinology and metabolism · 2023Article
- Identification of pathogenic DNA variants in premature ovarian insufficiency.Nature medicine · 2023Article
- Primary ovarian insufficiency has strong familiality: results of a multigenerational genealogical study.Fertility and sterility · 2023Article
- Identification of new variants and candidate genes in women with familial premature ovarian insufficiency using whole-exome sequencing.Journal of assisted reproduction and genetics · 2022Article
- Alterations in synaptonemal complex coding genes and human infertility.International journal of biological sciences · 2022Review
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Authors and funding
16 authors.
Funding
Abstract
contextA genetic etiology likely accounts for the majority of unexplained primary ovarian insufficiency (POI).
objectiveWe hypothesized that heterozygous rare variants and variants in enhanced categories are associated with POI.
designThe study was an observational study.
settingSubjects were recruited at academic institutions. PATIENTS: Subjects from Boston (n = 98), the National Institutes of Health and Washington University (n = 98), Pittsburgh (n = 20), Italy (n = 43), and France (n = 32) were diagnosed with POI (amenorrhea with an elevated follicle-stimulating hormone level). Controls were recruited for health in old age or were from the 1000 Genomes Project (total n = 233).
interventionWe performed whole exome sequencing (WES), and data were analyzed using a rare variant scoring method and a Bayes factor-based framework for identifying genes harboring pathogenic variants. We performed functional studies on identified genes that were not previously implicated in POI in a D. melanogaster model. MAIN OUTCOME: Genes with rare pathogenic variants and gene sets with increased burden of deleterious variants were identified.
resultsCandidate heterozygous variants were identified in known genes and genes with functional evidence. Gene sets with increased burden of deleterious alleles included the categories transcription and translation, DNA damage and repair, meiosis and cell division. Variants were found in novel genes from the enhanced categories. Functional evidence supported 7 new risk genes for POI (USP36, VCP, WDR33, PIWIL3, NPM2, LLGL1, and BOD1L1).
conclusionsCandidate causative variants were identified through WES in women with POI. Aggregating clinical data and genetic risk with a categorical approach may expand the genetic architecture of heterozygous rare gene variants causing risk for POI.
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