ArticleBMC genomic data2021
Mapping methylation quantitative trait loci in cardiac tissues nominates risk loci and biological pathways in congenital heart disease.
Article in BMC genomic data, 2021. 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, 13 citations in OpenAlex.
- Efficacy and Safety of Minimally Invasive Transcatheter Closure of Congenital Heart Disease under the Guidance of Transesophageal Ultrasound: A Randomized Controlled Trial.Computational and mathematical methods in medicine · 2022Trial
- Identification of DNA methylation biomarkers in amniotic fluid for prenatal detection of congenital heart disease (CHD).Clinical epigenetics · 2026Article
- Potential Functions and Causal Associations of GNLY in Primary Open-Angle Glaucoma: Integration of Blood-Derived Proteome, Transcriptome, and Experimental Verification.Journal of inflammation research · 2025Article
- Variation within the non-coding genome influences genetic and epigenetic regulation of the human leukocyte antigen genes.Frontiers in immunology · 2024Review
- Integrating GWAS and proteome data to identify novel drug targets for MU.Scientific reports · 2023Article
- Random field modeling of multi-trait multi-locus association for detecting methylation quantitative trait loci.Bioinformatics (Oxford, England) · 2022Article
- Identifying causal genes for stroke via integrating the proteome and transcriptome from brain and blood.Journal of translational medicine · 2022Article
- Detecting methylation quantitative trait loci using a methylation random field method.Briefings in bioinformatics · 2021Article
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Authors and funding
11 authors at 6 institutions in 1 country.
Funding
Abstract
backgroundMost congenital heart defects (CHDs) result from complex interactions among genetic susceptibilities, epigenetic modifications, and maternal environmental exposures. Characterizing the complex relationship between genetic, epigenetic, and transcriptomic variation will enhance our understanding of pathogenesis in this important type of congenital disorder. We investigated cis-acting effects of genetic single nucleotide polymorphisms (SNPs) on local DNA methylation patterns within 83 cardiac tissue samples and prioritized their contributions to CHD risk by leveraging results of CHD genome-wide association studies (GWAS) and their effects on cardiac gene expression.
resultsWe identified 13,901 potential methylation quantitative trait loci (mQTLs) with a false discovery threshold of 5%. Further co-localization analyses and Mendelian randomization indicated that genetic variants near the HLA-DRB6 gene on chromosome 6 may contribute to CHD risk by regulating the methylation status of nearby CpG sites. Additional SNPs in genomic regions on chromosome 10 (TNKS2-AS1 gene) and chromosome 14 (LINC01629 gene) may simultaneously influence epigenetic and transcriptomic variations within cardiac tissues.
conclusionsOur results support the hypothesis that genetic variants may influence the risk of CHDs through regulating the changes of DNA methylation and gene expression. Our results can serve as an important source of information that can be integrated with other genetic studies of heart diseases, especially CHDs.
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