ArticleAmerican journal of human genetics2017
Integrative Genetic and Epigenetic Analysis Uncovers Regulatory Mechanisms of Autoimmune Disease.
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses that pooled it.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
21 citing papers in PubMed, 2 syntheses or guidelines pooled it, 33 citations in OpenAlex.
- A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis.Nature communications · 2019Pooled it
- Integrative genomics identifies new genes associated with severe COPD and emphysema.Respiratory research · 2018Pooled it
- Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches.Cell communication and signaling : CCS · 2026Article
- Genetic and Epigenetic Intersections in COVID-19-Associated Cardiovascular Disease: Emerging Insights and Future Directions.Biomedicines · 2025Review
- Developing OCHROdb, a comprehensive quality checked database of open chromatin regions from sequencing data.Scientific reports · 2023Article
- Single-Cell Chromatin Accessibility Data Combined with GWAS Improves Detection of Relevant Cell Types in 59 Complex Phenotypes.International journal of molecular sciences · 2022Article
- The genetics of autoimmune Addison disease: past, present and future.Nature reviews. Endocrinology · 2022Review
- Triangulating Molecular Evidence to Prioritize Candidate Causal Genes at Established Atopic Dermatitis Loci.The Journal of investigative dermatology · 2021Article
- Integrative analysis of epigenetics data identifies gene-specific regulatory elements.Nucleic acids research · 2021Article
- Cholinergic anti-inflammatory pathway and connective tissue diseases.Inflammopharmacology · 2021Review
- Effects of targeting the transcription factors Ikaros and Aiolos on B cell activation and differentiation in systemic lupus erythematosus.Lupus science & medicine · 2021Article
- Resolving mechanisms of immune-mediated disease in primary CD4 T cells.EMBO molecular medicine · 2020Article
- Missing heritability in Parkinson's disease: the emerging role of non-coding genetic variation.Journal of neural transmission (Vienna, Austria : 1996) · 2020Review
- ORE identifies extreme expression effects enriched for rare variants.Bioinformatics (Oxford, England) · 2019Article
- Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility.Science (New York, N.Y.) · 2019Article
- Extreme Polygenicity of Complex Traits Is Explained by Negative Selection.American journal of human genetics · 2019Article
- The Association Between Affective Temperament Traits and Dopamine Genes in Obese Population.International journal of molecular sciences · 2019Article
- Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations.Nature genetics · 2019Article
- Article
- Genome-wide association studies of multiple sclerosis.Clinical & translational immunology · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genome-wide association studies in autoimmune and inflammatory diseases (AID) have uncovered hundreds of loci mediating risk. These associations are preferentially located in non-coding DNA regions and in particular in tissue-specific DNase I hypersensitivity sites (DHSs). While these analyses clearly demonstrate the overall enrichment of disease risk alleles on gene regulatory regions, they are not designed to identify individual regulatory regions mediating risk or the genes under their control, and thus uncover the specific molecular events driving disease risk. To do so we have departed from standard practice by identifying regulatory regions which replicate across samples and connect them to the genes they control through robust re-analysis of public data. We find significant evidence of regulatory potential in 78/301 (26%) risk loci across nine autoimmune and inflammatory diseases, and we find that individual genes are targeted by these effects in 53/78 (68%) of these. Thus, we are able to generate testable mechanistic hypotheses of the molecular changes that drive disease risk.
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Registered trials
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.