ArticleHuman molecular genetics2014
Linking the genetic architecture of cytosine modifications with human complex traits.
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
28 citing papers in PubMed, 43 citations in OpenAlex.
- Methylome-wide association study of multidimensional resilience.Development and psychopathology · 2025Article
- Linking DNA methylation in brain regions to Alzheimer's disease risk: a Mendelian randomization study.Human molecular genetics · 2025Article
- Associations of MTHFR Polymorphisms and Cytosine Modifications with Early-Gestational Diabetes Mellitus in Chinese Pregnant Women.Reproductive sciences (Thousand Oaks, Calif.) · 2023Article
- Differential methylation in EGLN1 associates with blood oxygen saturation and plasma protein levels in high-altitude pulmonary edema.Clinical epigenetics · 2022Article
- Deep learning predicts DNA methylation regulatory variants in the human brain and elucidates the genetics of psychiatric disorders.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Variants inProceedings of the National Academy of Sciences of the United States of America · 2020Article
- DNA hypermethylation in disease: mechanisms and clinical relevance.Epigenetics · 2019Review
- Review
- Genetic variants influence on the placenta regulatory landscape.PLoS genetics · 2018Article
- Genome-wide mapping of genetic determinants influencing DNA methylation and gene expression in human hippocampus.Nature communications · 2017Article
- Epigenomics and human adaptation to high altitude.Journal of applied physiology (Bethesda, Md. : 1985) · 2017Review
- Downregulation of PKCζ/Pard3/Pard6b is responsible for lung adenocarcinoma cell EMT and invasion.Cellular signalling · 2017Article
- Population Epigenetics.Current opinion in systems biology · 2017Article
- Epigenetic contribution of the myosin light chain kinase gene to the risk for acute respiratory distress syndrome.Translational research : the journal of laboratory and clinical medicine · 2017Article
- Genetic sources of population epigenomic variation.Nature reviews. Genetics · 2016Review
- Transcript Isoform Variation Associated with Cytosine Modification in Human Lymphoblastoid Cell Lines.Genetics · 2016Article
- Mechanisms and Disease Associations of Haplotype-Dependent Allele-Specific DNA Methylation.American journal of human genetics · 2016Article
- Genetic and environmental influences interact with age and sex in shaping the human methylome.Nature communications · 2016Article
- Linking short tandem repeat polymorphisms with cytosine modifications in human lymphoblastoid cell lines.Human genetics · 2016Article
- Integrative Analysis of Multi-omics Data for Discovery and Functional Studies of Complex Human Diseases.Advances in genetics · 2016Review
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
Interindividual variation in cytosine modifications could contribute to heterogeneity in disease risks and other complex traits. We assessed the genetic architecture of cytosine modifications at 283,540 CpG sites in lymphoblastoid cell lines (LCLs) derived from independent samples of European and African descent. Our study suggests that cytosine modification variation was primarily controlled in local by single major modification quantitative trait locus (mQTL) and additional minor loci. Local genetic epistasis was detectable for a small proportion of CpG sites, which were enriched by more than 9-fold for CpG sites mapped to population-specific mQTL. Genetically dependent CpG sites whose modification levels negatively (repressive sites) or positively (facilitative sites) correlated with gene expression levels significantly co-localized with transcription factor binding, with the repressive sites predominantly associated with active promoters whereas the facilitative sites rarely at active promoters. Genetically independent repressive or facilitative sites preferentially modulated gene expression variation by influencing local chromatin accessibility, with the facilitative sites primarily antagonizing H3K27me3 and H3K9me3 deposition. In comparison with expression quantitative trait loci (eQTL), mQTL detected from LCLs were enriched in associations for a broader range of disease categories including chronic inflammatory, autoimmune and psychiatric disorders, suggesting that cytosine modification variation, while possesses a degree of cell linage specificity, is more stably inherited over development than gene expression variation. About 11% of unique single-nucleotide polymorphisms reported in the Genome-Wide Association Study Catalog were annotated, 78% as mQTL and 31% as eQTL in LCLs, which covered 37% of the investigated diseases/traits and provided insights to the biological mechanisms.
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