SynthesisCirculation. Genomic and precision medicine2022
Pathway-Specific Polygenic Risk Scores Identify Obstructive Sleep Apnea-Related Pathways Differentially Moderating Genetic Susceptibility to Coronary Artery Disease.
Synthesis in Circulation. Genomic and precision medicine, 2022. 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, 31 citations in OpenAlex.
- Polygenic risk score for early identification of coronary artery disease in a real-world clinical setting within the Latvian patient population.American heart journal plus : cardiology research and practice · 2026Article
- Functionally informed annotation influences pathway-specific polygenic risk and disease inference in Alzheimer's disease.medRxiv : the preprint server for health sciences · 2026Article
- Article
- TGF-β Pathway-Based Polygenic Risk Score Modifies the Association between Red Meat Intake and Colorectal Cancer Risk: Application of a Novel Pathway-Based PRS Method.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2026Article
- A polygenic risk score modifies the cardiovascular risk associated with obstructive sleep apnea.Sleep advances : a journal of the Sleep Research Society · 2026Article
- Pathway-specific polygenic risk scores for blood pressure traits in a West African cohort.Frontiers in cardiovascular medicine · 2026Article
- Sleep Duration Irregularity and Risk for Incident Cardiovascular Disease in the UK Biobank.Journal of the American Heart Association · 2025Article
- Pathway polygenic risk scores (pPRS) for the analysis of gene-environment interaction.PLoS genetics · 2025Article
- Red meat intake interacts with a TGF-β-pathway-based polygenic risk score to impact colorectal cancer risk: Application of a novel approach for polygenic risk score construction.medRxiv : the preprint server for health sciences · 2025Article
- Advancements in genetic research by the Hispanic Community Health Study/Study of Latinos: A 10-year retrospective review.HGG advances · 2025Review
- Exploring the Relationship Between Sleep Apnea, Myocardial Infarct Size, and Coronary Collaterals in Acute Myocardial Infarction: A Multidisciplinary Study.Nature and science of sleep · 2025Article
- The Role of Sleep in Cardiovascular Disease.Current atherosclerosis reports · 2024Review
- Machine learning models for predicting blood pressure phenotypes by combining multiple polygenic risk scores.Scientific reports · 2024Article
- Many roads to a gene-environment interaction.American journal of human genetics · 2024Review
- New Approaches to the Management of Cardiovascular Risk Associated with Sleep Respiratory Disorders in Pediatric Patients.Biomedicines · 2024Review
- Heritability and genetic correlations for sleep apnea, insomnia, and hypersomnia in a large clinical biobank.Sleep health · 2024Article
- Sleep and cardiovascular disease.Emerging topics in life sciences · 2023Review
- Machine learning models for blood pressure phenotypes combining multiple polygenic risk scores.medRxiv : the preprint server for health sciences · 2023Article
- Obstructive sleep apnoea heterogeneity and cardiovascular disease.Nature reviews. Cardiology · 2023Review
- Effect of obstructive sleep apnea on prognosis in patients with acute coronary syndromes with varying numbers of standard modifiable risk factors: insight from the OSA-ACS study.Journal of thrombosis and thrombolysis · 2023Article
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Authors and funding
10 authors at 4 institutions in 3 countries.
Funding
Abstract
backgroundObstructive sleep apnea (OSA) and its features, such as chronic intermittent hypoxia, may differentially affect specific molecular pathways and processes in the pathogenesis of coronary artery disease (CAD) and influence the subsequent risk and severity of CAD events. In particular, competing adverse (eg, inflammatory) and protective (eg, increased coronary collateral blood flow) mechanisms may operate, but remain poorly understood. We hypothesize that common genetic variation in selected molecular pathways influences the likelihood of CAD events differently in individuals with and without OSA, in a pathway-dependent manner.
methodsWe selected a cross-sectional sample of 471 877 participants from the UK Biobank, with 4974 ascertained to have OSA, 25 988 to have CAD, and 711 to have both. We calculated pathway-specific polygenic risk scores for CAD, based on 6.6 million common variants evaluated in the CARDIoGRAMplusC4D genome-wide association study (Coronary ARtery DIsease Genome wide Replication and Meta-analysis [CARDIoGRAM] plus The Coronary Artery Disease [C4D] Genetics), annotated to specific genes and pathways using functional genomics databases. Based on prior evidence of involvement with intermittent hypoxia and CAD, we tested pathway-specific polygenic risk scores for the HIF1 (hypoxia-inducible factor 1), VEGF (vascular endothelial growth factor), NFκB (nuclear factor kappa-light-chain-enhancer of activated B cells) and TNF (tumor necrosis factor) signaling pathways.
resultsIn a multivariable-adjusted logistic generalized additive model, elevated pathway-specific polygenic risk scores for the Kyoto Encyclopedia of Genes and Genomes VEGF pathway (39 genes) associated with protection for CAD in OSA (interaction odds ratio 0.86,
conclusionsWe find evidence that pathway-specific genetic risk of CAD differs between individuals with and without OSA in a qualitatively pathway-dependent manner. These results provide evidence that gene-by-environment interaction influences CAD risk in certain pathways among people with OSA, an effect that is not well-captured by the genome-wide PRS. This invites further study of how OSA interacts with genetic risk at the molecular level and suggests eventual personalization of OSA treatment to reduce CAD risk according to individual pathway-specific genetic risk profiles.
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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 OpenQuestion graph.