ArticleFrontiers in genetics2022
Identifying novel genetic loci associated with polycystic ovary syndrome based on its shared genetic architecture with type 2 diabetes.
Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 10 citations in OpenAlex.
- Defining metabolic heterogeneity in polyendocrine metabolic ovarian syndrome based on the MTHFR C677T polymorphism: the potential pathway role of homocysteine.Journal of ovarian research · 2026Article
- A multi-chip integrated analysis employing machine learning techniques identifies biomarkers for diagnosing PCOS and its comorbidity with T2D.Annals of medicine and surgery (2012) · 2026Article
- Decoding the significance of TERT gene in Polycystic Ovary Syndrome: From molecular mechanisms to emerging diagnostic and therapeutic strategies.Journal of ovarian research · 2026Review
- Genomic relationship between polycystic ovary syndrome and bipolar disorder.Research square · 2025Article
- A novel link betweenBiomedical reports · 2025Article
- PCOS - the many faces of a disorder in women and men.Journal of endocrinological investigation · 2025Review
- Shared Pathophysiological Mechanisms and Genetic Factors in Early Menarche and Polycystic Ovary Syndrome.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Review
- Signaling pathways and targeted therapeutic strategies for polycystic ovary syndrome.Frontiers in endocrinology · 2023Review
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genome-wide association studies (GWAS) have identified several common variants associated with polycystic ovary syndrome (PCOS). However, the etiology behind PCOS remains incomplete. Available evidence suggests a potential genetic correlation between PCOS and type 2 diabetes (T2D). The publicly available data may provide an opportunity to enhance the understanding of the PCOS etiology. Here, we quantified the polygenic overlap between PCOS and T2D using summary statistics of PCOS and T2D and then identified the novel genetic variants associated with PCOS behind this phenotypic association. A bivariate causal mixture model (MiXeR model) found a moderate genetic overlap between PCOS and T2D (Dice coefficient = 44.1% and after adjusting for body mass index, 32.1%). The conditional/conjunctional false discovery rate method identified 11 potential risk variants of PCOS conditional on associations with T2D, 9 of which were novel and 6 of which were jointly associated with two phenotypes. The functional annotation of these genetic variants supports a significant role for genes involved in lipid metabolism, immune response, and the insulin signaling pathway. An expression quantitative trait locus functionality analysis successfully repeated that 5 loci were significantly associated with the expression of candidate genes in many tissues, including the whole blood, subcutaneous adipose, adrenal gland, and cerebellum. We found that
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