ArticleCurrent opinion in endocrine and metabolic research2020
The contribution of rare genetic variants to the pathogenesis of polycystic ovary syndrome.
Article in Current opinion in endocrine and metabolic research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis 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
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Leveraging Northern European population history: novel low-frequency variants for polycystic ovary syndrome.Human reproduction (Oxford, England) · 2022Pooled it
- POLYCYSTIC OVARY SYNDROME: ORIGINS AND IMPLICATIONS: Genetics of polycystic ovary syndrome (PCOS).Reproduction (Cambridge, England) · 2025Review
- Autoantibodies Targeting the Hypothalamic-Pituitary-Ovarian Axis in Polycystic Ovary Syndrome: Emerging Key Players in Pathogenesis?International journal of molecular sciences · 2025Review
- PCOS - the many faces of a disorder in women and men.Journal of endocrinological investigation · 2025Review
- POLYCYSTIC OVARY SYNDROME: ORIGINS AND IMPLICATIONS: Polycystic ovary syndrome: an evolutionary metabolic adaptation.Reproduction (Cambridge, England) · 2025Review
- Phenotypic Characterization of Patients with Polycystic Ovary Syndrome in a Population from the Ecuadorian Andes: A Cross-Sectional Study.Journal of clinical medicine · 2024Article
- Targeted deletion of NR2F2 and VCAM1 in theca cells impacts ovarian follicular development: insights into polycystic ovary syndrome?†.Biology of reproduction · 2024Article
- Induced Pluripotent Stem Cells as a Possible Approach for Exploring the Pathophysiology of Polycystic Ovary Syndrome (PCOS).Stem cell reviews and reports · 2024Review
- An Evolutionary Model for the Ancient Origins of Polycystic Ovary Syndrome.Journal of clinical medicine · 2023Article
- Transcriptomic survey of key reproductive and metabolic tissues in mouse models of polycystic ovary syndrome.Communications biology · 2023Article
- The PCOS GWAS Candidate GeneJournal of the Endocrine Society · 2022Article
- Further delineation of familial polycystic ovary syndrome (PCOS) via whole-exome sequencing: PCOS-related rare FBN3 and FN1 gene variants are identified.The journal of obstetrics and gynaecology research · 2022Article
- Polycystic ovary syndrome as a plausible evolutionary outcome of metabolic adaptation.Reproductive biology and endocrinology : RB&E · 2022Review
- Thada Is Dispensable for Female Fertility in Mice.Frontiers in endocrinology · 2022Article
- Passing on PCOS: new insights into its epigenetic transmission.Cell metabolism · 2021Article
- Prenatal Androgenization Alters the Development of GnRH Neuron and Preoptic Area RNA Transcripts in Female Mice.Endocrinology · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
Polycystic ovary syndrome (PCOS) is a highly heritable disorder, but only a small proportion of the heritability can be accounted for by common genetic risk variants identified to date. It is possible that variants with lower allele frequencies that cannot be detected using genome-wide association study arrays contribute to PCOS. Here, we discuss the challenges inherent to studying rare genetic variants in complex disease and review several recent studies that have used DNA sequencing techniques to investigate whether rare variants play a role in PCOS pathogenesis. We evaluate these findings in the context of the latest literature in PCOS and complex disease genetics.
Identifiers
What Socratic 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 Socratic graph.