ArticleBMC medical genomics2014
Integrative genomic analysis identifies epigenetic marks that mediate genetic risk for epithelial ovarian cancer.
Article in BMC medical genomics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 35 citations in OpenAlex.
- PARylation-centric crosstalk: orchestrating immune evasion and multidrug resistance in ovarian cancer.Frontiers in immunology · 2026Review
- The DNA methylome of cervical cells can predict the presence of ovarian cancer.Nature communications · 2022Observational
- Gene-based mediation analysis in epigenetic studies.Briefings in bioinformatics · 2021Article
- The blood transcriptome prior to ovarian cancer diagnosis: A case-control study in the NOWAC postgenome cohort.PloS one · 2021Article
- DNA Methylation in Ovarian Cancer Susceptibility.Cancers · 2020Review
- Association between SNPs and Loss of Methylation Site on the CpG island of the Promoter Region of the Smoothened Gene, Potential Molecular Markers for Susceptibility to the Development of Basal Cell Carcinoma in the Brazilian Population.Asian Pacific journal of cancer prevention : APJCP · 2020Article
- Methylation and ovarian cancer: Can DNA methylation be of diagnostic use?Molecular and clinical oncology · 2019Review
- Genetic Data from Nearly 63,000 Women of European Descent Predicts DNA Methylation Biomarkers and Epithelial Ovarian Cancer Risk.Cancer research · 2019Article
- Article
- Epigenetic Biomarkers in the Management of Ovarian Cancer: Current Prospectives.Frontiers in cell and developmental biology · 2019Review
- Testing Mediation Effects in High-Dimensional Epigenetic Studies.Frontiers in genetics · 2019Article
- Evaluating the potential role of pleiotropy in Mendelian randomization studies.Human molecular genetics · 2018Review
- Epigenome-based cancer risk prediction: rationale, opportunities and challenges.Nature reviews. Clinical oncology · 2018Review
- Mediation analysis of alcohol consumption, DNA methylation, and epithelial ovarian cancer.Journal of human genetics · 2018Article
- Orienting the causal relationship between imprecisely measured traits using GWAS summary data.PLoS genetics · 2017Article
- A comparison of methods for inferring causal relationships between genotype and phenotype using additional biological measurements.Genetic epidemiology · 2017Article
- DNA methylation signatures and coagulation factors in the peripheral blood leucocytes of epithelial ovarian cancer.Carcinogenesis · 2017Article
- Challenges and novel approaches for investigating molecular mediation.Human molecular genetics · 2016Article
- Association of six CpG-SNPs in the inflammation-related genes with coronary heart disease.Human genomics · 2016Article
- Improving cell mixture deconvolution by identifying optimal DNA methylation libraries (IDOL).BMC bioinformatics · 2016Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundBoth genetic and epigenetic factors influence the development and progression of epithelial ovarian cancer (EOC). However, there is an incomplete understanding of the interrelationship between these factors and the extent to which they interact to impact disease risk. In the present study, we aimed to gain insight into this relationship by identifying DNA methylation marks that are candidate mediators of ovarian cancer genetic risk.
methodsWe used 214 cases and 214 age-matched controls from the Mayo Clinic Ovarian Cancer Study. Pretreatment, blood-derived DNA was profiled for genome-wide methylation (Illumina Infinium HumanMethylation27 BeadArray) and single nucleotide polymorphisms (SNPs, Illumina Infinium HD Human610-Quad BeadArray). The Causal Inference Test (CIT) was implemented to distinguish CpG sites that mediate genetic risk, from those that are consequential or independently acted on by genotype.
resultsControlling for the estimated distribution of immune cells and other key covariates, our initial epigenome-wide association analysis revealed 1,993 significantly differentially methylated CpGs that between cases and controls (FDR, q < 0.05). The relationship between methylation and case-control status for these 1,993 CpGs was found to be highly consistent with the results of previously published, independent study that consisted of peripheral blood DNA methylation signatures in 131 pretreatment cases and 274 controls. Implementation of the CIT test revealed 17 CpG/SNP pairs, comprising 13 unique CpGs and 17 unique SNPs, which represent potential methylation-mediated relationships between genotype and EOC risk. Of these 13 CpGs, several are associated with immune related genes and genes that have been previously shown to exhibit altered expression in the context of cancer.
conclusionsThese findings provide additional insight into EOC etiology and may serve as novel biomarkers for EOC susceptibility.
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