ArticlePloS one2015
Pathway Analysis Based on a Genome-Wide Association Study of Polycystic Ovary Syndrome.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 40 citations in OpenAlex.
- One-carbon metabolism and risk of PCOS: insights from Mendelian randomization.Journal of ovarian research · 2025Article
- Cardiometabolic markers and serum amh levels in PCOS: can AMH serve as a surrogate cardiometabolic markeR?BMC women's health · 2025Article
- Transcriptome analysis of early embryonic development in a mouse model of polycystic ovary syndrome.Frontiers in cell and developmental biology · 2025Article
- In vitro evaluation of exocytosis-associated SNARE molecules in human granulosa cells in polycystic ovary syndrome.Journal of assisted reproduction and genetics · 2024Article
- Identification of the potential regulatory interactions in rheumatoid arthritis through a comprehensive analysis of lncRNA-related ceRNA networks.BMC musculoskeletal disorders · 2023Article
- Metabolic and biochemical profile in women with polycystic ovarian syndrome attending tertiary care centre of central NEPAL.BMC women's health · 2023Article
- Exome sequencing to explore the possibility of predicting genetic susceptibility to the joint occurrence of polycystic ovary syndrome and Hashimoto's thyroiditis.Frontiers in immunology · 2023Article
- Genetic Susceptibility to Joint Occurrence of Polycystic Ovary Syndrome and Hashimoto's Thyroiditis: How Far Is Our Understanding?Frontiers in immunology · 2021Review
- Article
- Overexpression of PDK2 and PDK3 reflects poor prognosis in acute myeloid leukemia.Cancer gene therapy · 2020Article
- Muscle Gene Sets: a versatile methodological aid to functional genomics in the neuromuscular field.Skeletal muscle · 2019Article
- An integrative approach for building personalized gene regulatory networks for precision medicine.Genome medicine · 2018Review
- Enrichment of B cell receptor signaling and epidermal growth factor receptor pathways in monoclonal gammopathy of undetermined significance: a genome-wide genetic interaction study.Molecular medicine (Cambridge, Mass.) · 2018Article
- Identification of selected genetic polymorphisms in polycystic ovary syndrome in Sri Lankan women using low cost genotyping techniques.PloS one · 2018Article
- Differential DNA methylation patterns of polycystic ovarian syndrome in whole blood of Chinese women.Oncotarget · 2017Article
- Intrauterine Reprogramming of the Polycystic Ovary Syndrome: Evidence from a Pilot Study of Cord Blood Global Methylation Analysis.Frontiers in endocrinology · 2017Article
- Single-cell analysis of differences in transcriptomic profiles of oocytes and cumulus cells at GV, MI, MII stages from PCOS patients.Scientific reports · 2016Article
- Reactome from a WikiPathways Perspective.PLoS computational biology · 2016Article
- Perspectives in Polycystic Ovary Syndrome: From Hair to Eternity.The Journal of clinical endocrinology and metabolism · 2016Article
- Genetics of Common Endocrine Disease: The Present and the Future.The Journal of clinical endocrinology and metabolism · 2016Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPolycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in women of reproductive age, and it is affected by both environmental and genetic factors. Although the genetic component of PCOS is evident, studies aiming to identify susceptibility genes have shown controversial results. This study conducted a pathway-based analysis using a dataset obtained through a genome-wide association study (GWAS) to elucidate the biological pathways that contribute to PCOS susceptibility and the associated genes.
methodsWe used GWAS data on 636,797 autosomal single nucleotide polymorphisms (SNPs) from 1,221 individuals (432 PCOS patients and 789 controls) for analysis. A pathway analysis was conducted using meta-analysis gene-set enrichment of variant associations (MAGENTA). Top-ranking pathways or gene sets associated with PCOS were identified, and significant genes within the pathways were analyzed.
resultsThe pathway analysis of the GWAS dataset identified significant pathways related to oocyte meiosis and the regulation of insulin secretion by acetylcholine and free fatty acids (all nominal gene-set enrichment analysis (GSEA) P-values < 0.05). In addition, INS, GNAQ, STXBP1, PLCB3, PLCB2, SMC3 and PLCZ1 were significant genes observed within the biological pathways (all gene P-values < 0.05).
conclusionsBy applying MAGENTA pathway analysis to PCOS GWAS data, we identified significant pathways and candidate genes involved in PCOS. Our findings may provide new leads for understanding the mechanisms underlying the development of PCOS.
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