ReviewHuman molecular genetics2017
Context-specific effects of genetic variants associated with autoimmune disease.
Review in Human molecular genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
What it found
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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.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
- A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn's disease.Scientific reports · 2020Pooled it
- eQTL in diseased colon tissue identifies potential target genes associated with IBD.Nature communications · 2026Article
- Psoriasis risk allele function in activated Th1/17 cells with "memory" to antigen exposure.PloS one · 2026Article
- An inflammation-associated lncRNA induces neuronal damage via mitochondrial dysfunction.Molecular therapy. Nucleic acids · 2025Article
- Shared Genetics in Celiac Disease and Inflammatory Bowel Disease Specify a Greater Role for Intestinal Epithelial Cells.International journal of molecular sciences · 2025Review
- Implications of gene × environment interactions in post-traumatic stress disorder risk and treatment.The Journal of clinical investigation · 2025Review
- Expression quantitative trait loci influence DNA damage-induced apoptosis in cancer.BMC genomics · 2024Article
- mAdvanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Demographic and clinical associations of autoimmune diseases in rheumatoid arthritis patients: Insights from a tertiary care hospital in Saudi Arabia from 2019 to 2023.SAGE open medicine · 2024Article
- eQTL studies: from bulk tissues to single cells.Journal of genetics and genomics = Yi chuan xue bao · 2023Review
- Identification of asthma-related genes using asthmatic blood eQTLs of Korean patients.BMC medical genomics · 2023Article
- Integrating genetics and transcriptomics to study major depressive disorder: a conceptual framework, bioinformatic approaches, and recent findings.Translational psychiatry · 2023Review
- eQTL Studies: from Bulk Tissues to Single Cells.ArXiv · 2023Article
- Prioritizing autoimmunity risk variants for functional analyses by fine-mapping mutations under natural selection.Nature communications · 2022Article
- Review
- The regulatory mechanism and potential application of IL-23 in autoimmune diseases.Frontiers in pharmacology · 2022Review
- Genetic Association of a Gain-of-Function IFNGR1 Polymorphism and the Intergenic Region LNCAROD/DKK1 With Behçet's Disease.Arthritis & rheumatology (Hoboken, N.J.) · 2021Article
- MutS protein-based fiber optic particle plasmon resonance biosensor for detecting single nucleotide polymorphisms.Analytical and bioanalytical chemistry · 2021Article
- Cell-type-specific expression quantitative trait loci associated with Alzheimer disease in blood and brain tissue.Translational psychiatry · 2021Article
- The Pathological Mechanism and Potential Application of IL-38 in Autoimmune Diseases.Frontiers in pharmacology · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autoimmune diseases such as rheumatoid arthritis and coeliac disease are typical examples of complex genetic diseases caused by a combination of genetic and non-genetic risk factors. Insight into the genetic risk factors (single nucleotide polymorphisms (SNPs)) has increased since genome-wide association studies (GWAS) became possible in 2007 and, for individual diseases, SNPs can now explain some 15-50% of genetic risk. GWAS have also shown that some 50% of the genetic risk factors for individual autoimmune diseases overlap between different diseases. Thus, shared risk factors may converge to pathways that, when perturbed by genetic variation, predispose to autoimmunity in general. This raises the question of what determines disease specificity, and suggests that identical risk factors may have different effects in various autoimmune diseases. Addressing this question requires translation of genetic risk factors to causal genes and then to molecular and cellular pathways. Since >90% of the genetic risk factors are found in the non-coding part of the genome (i.e. outside the exons of protein-coding genes) and can have an impact on gene regulation, there is an urgent need to better understand the non-coding part of the genome. Here, we will outline the methods being used to unravel the gene regulatory networks perturbed in autoimmune diseases and the importance of doing this in the relevant cell types. We will highlight findings in coeliac disease, which manifests in the small intestine, to demonstrate how cell type and disease context can impact on the consequences of genetic risk factors.
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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.